Variant of TREM2 associated with the risk of Alzheimer's disease, N Engl J Med, vol.368, pp.107-116, 2013. ,
TREM2 variants in Alzheimer's disease, N Engl J Med, vol.368, pp.117-127, 2013. ,
Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease, Nature, vol.505, pp.550-554, 2014. ,
High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease, Mol Psychiatry, vol.17, pp.875-879, 2012. ,
URL : https://hal.archives-ouvertes.fr/hal-00965204
A mutation in APP protects against Alzheimer's disease and age-related cognitive decline, Nature, vol.488, pp.96-99, 2012. ,
A rare mutation in UNC5C predisposes to late-onset Alzheimer's disease and increases neuronal cell death, Nat Med, vol.20, pp.1452-1457, 2014. ,
SORL1 rare variants: a major risk factor for familial early-onset Alzheimer's disease, Mol Psychiatry Epub, 2015. ,
PLD3 in nonfamilial Alzheimer's disease, Nature, vol.520, pp.3-5, 2015. ,
PLD3 gene variants and Alzheimer's disease, Nature, vol.520, pp.7-8, 2015. ,
PLD3 and sporadic Alzheimer's disease risk, Nature, vol.520, p.1, 2015. ,
PLD3 variants in population studies, Nature, vol.520, pp.2-3, 2015. ,
Rare variants in PLD3 do not affect risk for early-onset Alzheimer disease in a European Consortium Cohort, Hum Mutat, vol.36, pp.1226-1235, 2015. ,
Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease, Nat Genet, vol.47, pp.445-447, 2015. ,
, ABCA7 in a Belgian cohort of Alzheimer's disease
Matrix metalloproteinase-9 (MMP-9) is synthesized in neurons of the human hippocampus and is capable of degrading the amyloid-beta peptide (1-40), J Neurosci, vol.16, pp.7910-7919, 1996. ,
Angiotensin-converting enzyme converts amyloid beta-protein 1-42 (Abeta(142)) to Abeta(1-40), and its inhibition enhances brain Abeta deposition, J Neurosci, vol.27, pp.8-14, 2007. ,
Endothelin-converting enzymes degrade intracellular beta-amyloid produced within the endosomal/lysosomal pathway and autophagosomes, J Biol Chem, vol.288, pp.5606-5615, 2013. ,
Glutamate carboxypeptidase II: an amyloid peptide-degrading enzyme with physiological function in the brain, FASEB J, vol.24, pp.4491-4502, 2010. ,
Identification of BACE2 as an avid ss-amyloid-degrading protease, Mol Neurodegener, vol.7, p.46, 2012. ,
Antiamyloidogenic and neuroprotective functions of cathepsin B: implications for Alzheimer's disease, Neuron, vol.51, pp.703-714, 2006. ,
The role of microglia in amyloid clearance from the AD brain, J Neural Transm, vol.117, pp.9-13, 2010. ,
Inflammation in Alzheimer's disease: amyloid-beta oligomers trigger innate immunity defence via pattern recognition receptors, Prog Neurobiol, vol.87, pp.1-8, 2009. ,
Innate immunity in Alzheimer's disease, Nat Immunol, vol.16, issue.2, pp.9-236, 2015. ,
Complement C3 deficiency leads to accelerated amyloid beta plaque deposition and neurodegeneration and modulation of the microglia/macrophage phenotype in amyloid precursor protein transgenic mice, J Neurosci, vol.28, pp.6333-6341, 2008. ,
Complement receptor 1 (CR1) and Alzheimer's disease, Immunobiology, vol.217, issue.2, pp.4-250, 2012. ,
Neuroinflammation in Alzheimer's disease, Lancet Neurol, vol.14, pp.3-8, 2015. ,
TREM2 lipid sensing sustains the microglial response in an Alzheimer's disease model, Cell, vol.160, pp.1061-1071, 2015. ,
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21, Nature, vol.442, pp.9-11, 2006. ,
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17, Nature, vol.442, pp.916-919, 2006. ,
Progranulin mutations as risk factors for Alzheimer disease, JAMA Neurol, vol.70, pp.774-778, 2013. ,
Progranulin protects against amyloid beta deposition and toxicity in Alzheimer's disease mouse models, Nat Med, vol.20, pp.1157-1164, 2014. ,
Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease, Nat Genet, vol.47, pp.445-447, 2015. ,
ABCA7 in Alzheimer's disease, Mol Neurobiol, vol.51, pp.1008-1016, 2015. ,
ABCA7 loss of function alters Alzheimer amyloid processing, J Biol Chem, vol.290, pp.24152-24165, 2015. ,
Amyloid beta-protein inhibits ubiquitin-dependent protein degradation in vitro, J Biol Chem, vol.270, pp.19702-19708, 1995. ,
Parkin promotes intracellular Abeta1-42 clearance, Hum Mol Genet, vol.18, pp.3206-3216, 2009. ,
Extensive involvement of autophagy in Alzheimer disease: an immuno-electron microscopy study, J Neuropathol Exp Neurol, vol.64, pp.1-1, 2005. ,
The autophagy-related protein beclin 1 shows reduced expression in early Alzheimer disease and regulates amyloid beta accumulation in mice, J Clin Invest, vol.118, pp.2190-2199, 2008. ,
The toxic Abeta oligomer and Alzheimer's disease: an emperor in need of clothes, Nat Neurosci, vol.15, pp.349-357, 2012. ,
Transglutaminase induces protofibril-like amyloid beta-protein assemblies that are proteaseresistant and inhibit long-term potentiation, J Biol Chem, vol.283, pp.16790-16800, 2008. ,
DOI : 10.1074/jbc.m802215200
URL : http://www.jbc.org/content/283/24/16790.full.pdf
N-terminal pyroglutamate formation of Abeta38 and Abeta40 enforces oligomer formation and potency to disrupt hippocampal long-term potentiation, J Neurochem, vol.121, pp.774-784, 2012. ,
DOI : 10.1111/j.1471-4159.2012.07707.x
URL : http://onlinelibrary.wiley.com/doi/10.1111/j.1471-4159.2012.07707.x/pdf
Extracellular phosphorylation of the amyloid beta-peptide promotes formation of toxic aggregates during the pathogenesis of Alzheimer's disease, EMBO J, vol.30, pp.2255-2265, 2011. ,
Contribution by synaptic zinc to the gender-disparate plaque formation in human Swedish mutant APP transgenic mice, Proc Natl Acad Sci, vol.99, pp.7705-7710, 2002. ,
Heat shock proteins 70 and 90 inhibit early stages of amyloid beta-(1-42) aggregation in vitro, J Biol Chem, vol.281, pp.33182-33191, 2006. ,
Sequestration of toxic oligomers by HspB1 as a cytoprotective mechanism, Mol Cell Biol, vol.31, pp.3146-3157, 2011. ,
Small heat shock proteins inhibit amyloid-beta protein aggregation and cerebrovascular amyloid-beta protein toxicity, Brain Res, vol.1089, pp.6-7, 2006. ,
DOI : 10.1016/j.brainres.2006.03.058
Acetylcholinesterase accelerates assembly of amyloid-beta-peptides into Alzheimer's fibrils: possible role of the peripheral site of the enzyme, Neuron, vol.16, pp.881-891, 1996. ,
Apolipoprotein E isoform-dependent amyloid deposition and neuritic degeneration in a mouse model of Alzheimer's disease, Proc Natl Acad Sci, vol.97, pp.2892-2897, 2000. ,
Agrin binds to beta-amyloid (Abeta), accelerates abeta fibril formation, and is localized to Abeta deposits in Alzheimer's disease brain, Mol Cell Neurosci, vol.15, pp.183-198, 2000. ,
DOI : 10.1006/mcne.1999.0816
Perlecan binds to the beta-amyloid proteins (A beta) of Alzheimer's disease, accelerates A beta fibril formation, and maintains A beta fibril stability, J Neurochem, vol.69, pp.2452-2465, 1997. ,
Butyrylcholinesterase attenuates amyloid fibril formation in vitro, Proc Natl Acad Sci, vol.103, pp.8628-8633, 2006. ,
DOI : 10.1073/pnas.0602922103
URL : http://www.pnas.org/content/103/23/8628.full.pdf
Mechanisms of transthyretin inhibition of beta-amyloid aggregation in vitro, J Neurosci, vol.33, pp.19423-19433, 2013. ,
Clusterin: a forgotten player in Alzheimer's disease, Brain Res Rev, vol.61, pp.8-9, 2009. ,
DOI : 10.1016/j.brainresrev.2009.05.007
Alpha2macroglobulin associates with beta-amyloid peptide and prevents fibril formation, Proc Natl Acad Sci, vol.95, pp.3275-3280, 1998. ,
DOI : 10.1073/pnas.95.6.3275
URL : http://www.pnas.org/content/95/6/3275.full.pdf
Cystatin C modulates cerebral beta-amyloidosis, Nat Genet, vol.39, pp.1437-1439, 2007. ,
DOI : 10.1038/ng.2007.23
Cystatin C inhibits amyloid-beta deposition in Alzheimer's disease mouse models, Nat Genet, vol.39, pp.1440-1442, 2007. ,
DOI : 10.1038/ng.2007.29
Alpha 1-antichymotrypsin regulates Alzheimer beta-amyloid peptide fibril formation, Proc Natl Acad Sci, vol.92, pp.2313-2317, 1995. ,
DOI : 10.1073/pnas.92.6.2313
URL : http://www.pnas.org/content/92/6/2313.full.pdf
Reduced reelin expression accelerates amyloid-beta plaque formation and tau pathology in transgenic Alzheimer's disease mice, J Neurosci, vol.30, pp.9228-9240, 2010. ,
DOI : 10.1523/jneurosci.0418-10.2010
URL : http://www.jneurosci.org/content/30/27/9228.full.pdf
Pathogenic protein seeding in Alzheimer disease and other neurodegenerative disorders, Ann Neurol, vol.70, pp.532-540, 2011. ,
DOI : 10.1002/ana.22615
URL : http://europepmc.org/articles/pmc3203752?pdf=render
Beta-amyloid peptides enhance alpha-synuclein accumulation and neuronal deficits in a transgenic mouse model linking Alzheimer's disease and Parkinson's disease, Proc Natl Acad Sci, vol.98, pp.12245-12250, 2001. ,
Cross-seeding effects of amyloid betaprotein and alpha-synuclein, J Neurochem, vol.122, issue.8, pp.3-890, 2012. ,
DOI : 10.1016/j.jalz.2014.05.1152
URL : https://kanazawa-u.repo.nii.ac.jp/?action=repository_action_common_download&item_id=13927&item_no=1&attribute_id=26&file_no=1
Full-length TDP-43 forms toxic amyloid oligomers that are present in frontotemporal lobar dementia-TDP patients, Nat Commun, vol.5, p.4824, 2014. ,
DOI : 10.1038/ncomms5824
URL : http://www.nature.com/articles/ncomms5824.pdf
Amyloid-beta oligomers as a template for secondary amyloidosis in Alzheimer's disease, Neurobiol Dis, vol.71, pp.14-23, 2014. ,
TDP-43 is a key player in the clinical features associated with Alzheimer's disease, Acta Neuropathol, vol.127, pp.811-824, 2014. ,
, Modeling an A?-centered biological network D Campion et al
Lewy bodies in Alzheimer's disease: a neuropathological review of 145 cases using alpha-synuclein immunohistochemistry, Brain Pathol, vol.10, pp.378-384, 2000. ,
Tau is essential to beta-amyloid-induced neurotoxicity, Proc Natl Acad Sci, vol.99, pp.6364-6369, 2002. ,
Reducing endogenous tau ameliorates amyloid beta-induced deficits in an Alzheimer's disease mouse model, Science, vol.316, issue.7, pp.0-754, 2007. ,
Dendritic function of tau mediates amyloid-beta toxicity in Alzheimer's disease mouse models, Cell, vol.142, pp.387-397, 2010. ,
Src kinases: a hub for NMDA receptor regulation, Nat Rev Neurosci, vol.5, pp.317-328, 2004. ,
Tau aggregation and its interplay with amyloid-beta, Acta Neuropathol, vol.129, pp.207-220, 2015. ,
Oligomeric Abeta-induced synaptic dysfunction in Alzheimer's disease, Mol Neurodegener, vol.9, pp.4-8, 2014. ,
Methylene blue does not reverse existing neurofibrillary tangle pathology in the rTg4510 mouse model of tauopathy, Neurosci Lett, vol.562, pp.6-9, 2014. ,
Tau pathology and neurodegeneration, Lancet Neurol, vol.12, pp.609-622, 2013. ,
Lost after translation: missorting of tau protein and consequences for Alzheimer disease, Trends Neurosci, vol.37, pp.7-9, 2014. ,
Activitydependent tau protein translocation to excitatory synapse is disrupted by exposure to amyloid-beta oligomers, J Neurosci, vol.34, pp.6084-6097, 2014. ,
The importance of tau phosphorylation for neurodegenerative diseases, Front Neurol, vol.4, p.3, 2013. ,
Hyperphosphorylation-induced tau oligomers, Front Neurol, vol.4, p.112, 2013. ,
Reduced protein phosphatase 2 A activity induces hyperphosphorylation and altered compartmentalization of tau in transgenic mice, J Biol Chem, vol.276, pp.38193-38200, 2001. ,
A critical role for the PAR-1/ MARK-tau axis in mediating the toxic effects of Abeta on synapses and dendritic spines, Hum Mol Genet, vol.21, pp.1-3, 2012. ,
The CAMKK2-AMPK kinase pathway mediates the synaptotoxic effects of Abeta oligomers through Tau phosphorylation, Neuron, vol.78, pp.9-13, 2013. ,
Neurotoxicity induces cleavage of p35 to p25 by calpain, Nature, vol.405, pp.3-6, 2000. ,
Transient increases in intracellular calcium result in prolonged site-selective increases in Tau phosphorylation through a glycogen synthase kinase 3beta-dependent pathway, J Biol Chem, vol.274, pp.21395-21401, 1999. ,
The DYRK1A gene, encoded in chromosome 21 Down syndrome critical region, bridges between beta-amyloid production and tau phosphorylation in Alzheimer disease, Hum Mol Genet, vol.16, pp.1-5, 2007. ,
Ryanodine receptors: physiological function and deregulation in Alzheimer disease, Mol Neurodegen, vol.9, issue.2 1, 2014. ,
Involvement of endoplasmic reticulum Ca 2+ release through ryanodine and inositol 1,4,5-triphosphate receptors in the neurotoxic effects induced by the amyloid-beta peptide, J Neurosci Res, vol.76, pp.872-880, 2004. ,
A polymorphism in CALHM1 influences Ca2+ homeostasis, Abeta levels, and Alzheimer's disease risk, Cell, vol.133, pp.1149-1161, 2008. ,
Caspase cleavage of tau: linking amyloid and neurofibrillary tangles in Alzheimer's disease, Proc Natl Acad Sci, vol.100, pp.10032-10037, 2003. ,
Seeding of normal tau by pathological tau conformers drives pathogenesis of Alzheimer-like tangles, J Biol Chem, vol.286, pp.15317-15331, 2011. ,
Abeta and tau form soluble complexes that may promote self aggregation of both into the insoluble forms observed in Alzheimer's disease, Proc Natl Acad Sci, vol.103, pp.1953-1958, 2006. ,
AMPAR removal underlies Abeta-induced synaptic depression and dendritic spine loss, Neuron, vol.52, pp.831-843, 2006. ,
Beta-amyloid (1-42) binds to alpha7 nicotinic acetylcholine receptor with high affinity. Implications for Alzheimer's disease pathology, J Biol Chem, vol.275, pp.5-6, 2000. ,
The complex PrP(c)-Fyn couples human oligomeric Abeta with pathological tau changes in Alzheimer's disease, J Neurosci, vol.32, pp.16857-71, 2012. ,
Alzheimer amyloid-beta oligomer bound to postsynaptic prion protein activates Fyn to impair neurons, Nat Neurosci, vol.15, pp.1227-1235, 2012. ,
Human LilrB2 is a beta-amyloid receptor and its murine homolog PirB regulates synaptic plasticity in an Alzheimer's model, Science, vol.341, pp.1399-1404, 2013. ,
The p75 neurotrophin receptor promotes amyloid-beta(1-42)-induced neuritic dystrophy in vitro and in vivo, J Neurosci, vol.29, pp.10627-10637, 2009. ,
Eph receptors: new players in Alzheimer's disease pathogenesis, Neurobiol Dis, vol.73, pp.1-3, 2015. ,
Metabotropic glutamate receptor 5 is a coreceptor for Alzheimer abeta oligomer bound to cellular prion protein, Neuron, vol.79, issue.8, pp.7-902, 2013. ,
Soluble betaamyloid1-40 induces NMDA-dependent degradation of postsynaptic density-95 at glutamatergic synapses, J Neurosci, vol.25, pp.11061-11070, 2005. ,
Natural oligomers of the Alzheimer amyloid-beta protein induce reversible synapse loss by modulating an NMDA-type glutamate receptor-dependent signaling pathway, J Neurosci, vol.27, pp.2866-2875, 2007. ,
The diagnosis of dementia due to Alzheimer's disease: recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease, Alzheimers Dement J Alzheimers Assoc, vol.7, pp.263-269, 2011. ,
Prevalence of amyloid PET positivity in dementia syndromes: a meta-analysis, JAMA, vol.313, pp.1939-1949, 2015. ,
Suspected non-Alzheimer disease pathophysiology-concept and controversy, Nat Rev Neurol, vol.12, pp.1-1, 2016. ,
An operational approach to National Institute on Aging-Alzheimer's Association criteria for preclinical Alzheimer disease, Ann Neurol, vol.71, pp.7-13, 2012. ,
Mutations in ABCA7 in a Belgian cohort of Alzheimer's disease patients: a targeted resequencing study, Lancet Neurol, vol.14, pp.814-822, 2015. ,
TREM2 variants in Alzheimer's disease, N Engl J Med, vol.368, pp.1-1, 2013. ,
Variant of TREM2 associated with the risk of Alzheimer's disease, N Engl J Med, vol.368, pp.1-1, 2013. ,
ABCA7 rare variants and Alzheimer disease risk, Neurology, vol.86, pp.2134-2137, 2016. ,
URL : https://hal.archives-ouvertes.fr/hal-01831744
SORL1 rare variants: a major risk factor for familial early-onset Alzheimer's disease, Mol Psychiatry, vol.21, pp.3-4, 2016. ,
Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease, Nat Genet, vol.47, pp.445-447, 2015. ,
Identification of a novel 4.6-kb genomic deletion in presenilin-1 gene which results in exclusion of exon 9 in a Finnish early onset Alzheimer's disease family: an Alu core sequence-stimulated recombination?, Eur J Hum Genet EJHG, vol.8, pp.259-266, 2000. ,
Alzheimer disease PS-1 exon 9 deletion defined, Nat Med, vol.5, p.1090, 1999. ,
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy, Nat Genet, vol.38, pp.2-4, 2006. ,
Rare autosomal copy number variations in early-onset familial Alzheimer's disease, Mol Psychiatry, vol.19, pp.6-7, 2014. ,
A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease, Eur J Hum Genet EJHG, vol.20, pp.613-617, 2012. ,
URL : https://hal.archives-ouvertes.fr/hal-00965208
Alzheimer risk associated with a copy number variation in the complement receptor 1 increasing C3b/C4b binding sites, Mol Psychiatry, vol.17, pp.223-233, 2012. ,
Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons, Eur J Hum Genet EJHG, vol.24, pp.7-8, 2016. ,
URL : https://hal.archives-ouvertes.fr/hal-01431285
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS, Neuron, vol.72, issue.2, pp.5-256, 2011. ,
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data, Genome Res, vol.20, pp.1297-1303, 2010. ,
Fast and accurate long-read alignment with Burrows-Wheeler transform, Bioinforma Oxf Engl, vol.26, pp.5-8, 2010. ,
Data quality control in genetic case-control association studies, Nat Protoc, 2010. ,
Second-generation PLINK: rising to the challenge of larger and richer datasets, GigaScience, vol.4, p.7, 2015. ,
Detecting and estimating contamination of human DNA samples in sequencing and array-based genotype data, Am J Hum Genet, vol.91, pp.3-9, 2012. ,
CANOES: detecting rare copy number variants from whole exome sequencing data, Nucleic Acids Res, vol.42, p.97, 2014. ,
Analysis of copy number variation in Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals, PloS One, vol.7, p.50640, 2012. ,
Analysis of copy number variation in Alzheimer's disease: the NIALOAD/ NCRAD Family Study, Curr Alzheimer Res, vol.9, pp.801-814, 2012. ,
Familial early-onset dementia with complex neuropathologic phenotype and genomic background, Neurobiol Aging, vol.42, pp.1-9, 2016. ,
Frontotemporal dementia phenotype associated with MAPT gene duplication, J Alzheimers Dis JAD, vol.21, pp.8-9, 2010. ,
Alzheimer disease: modeling an A?-centered biological network, Mol Psychiatry, vol.21, pp.861-871, 2016. ,
Refining analyses of copy number variation identifies specific genes associated with developmental delay, Nat Genet, vol.46, pp.1063-1071, 2014. ,
Patterns of genic intolerance of rare copy number variation in 59,898 human exomes, Nat Genet, vol.48, issue.1, pp.0-7, 2016. ,
Biomarker modeling of Alzheimer's disease, Neuron, vol.80, pp.1347-1358, 2013. ,
The cerebrospinal fluid 'Alzheimer profile': easily said, but what does it mean?, Alzheimers Dement J Alzheimers Assoc, vol.10, pp.7-8, 2014. ,
Tau pathology and neurodegeneration, Lancet Neurol, vol.12, pp.0-9, 2013. ,
DOI : 10.1016/s1474-4422(13)70090-5
Association of MAPT haplotypes with Alzheimer's disease risk and MAPT brain gene expression levels, Alzheimers Res Ther, vol.6, p.39, 2014. ,
Chromosome 17q21.31 duplication syndrome: Description of a new familiar case and further delineation of the clinical spectrum, Eur J Paediatr Neurol EJPN Off J Eur Paediatr Neurol Soc, vol.20, pp.1-8, 2016. ,
Microdeletion and microduplication 17q21.31 plus an additional CNV, in patients with intellectual disability, identified by array-CGH, Gene, vol.492, pp.3-4, 2012. ,
A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features, Eur J Med Genet, vol.50, issue.2, pp.6-263, 2007. ,
31 microduplication patients are characterised by behavioural problems and poor social interaction, J Med Genet, vol.46, pp.524-530, 2009. ,
Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases, Hum Mol Genet, vol.21, pp.3500-3512, 2012. ,
PART is part of Alzheimer disease, Acta Neuropathol (Berl), vol.129, pp.7-11, 2015. ,
PART, a distinct tauopathy, different from classical sporadic Alzheimer disease, Acta Neuropathol (Berl), vol.129, pp.757-762, 2015. ,
A novel Alzheimer disease locus located near the gene encoding tau protein, Mol Psychiatry, vol.21, pp.108-117, 2016. ,
CANOES: detecting rare copy number variants from whole exome sequencing data, Nucleic Acids Res, vol.42, p.97, 2014. ,
Sampling the conformational space of the catalytic subunit of human ?-secretase, 2015. ,
Glu(332) in the Nicastrin ectodomain is essential for gamma-secretase complex maturation but not for its activity, J. Biol. Chem, vol.283, pp.20096-20105, 2008. ,
The mechanism of ?-secretase dysfunction in familial Alzheimer disease, EMBO J, vol.31, pp.2261-2274, 2012. ,
Total inactivation of gamma-secretase activity in presenilin-deficient embryonic stem cells, Nat. Cell Biol, vol.2, pp.461-462, 2000. ,
Identification of a novel 4.6-kb genomic deletion in presenilin-1 gene which results in exclu early onset Alzheimer's disease family: an Alu core sequence-stimulated recombination?, Eur. J. Hum. Genet, vol.8, pp.259-266, 2000. ,
A fast growing spectrum of biological functions of ?-secretase in development and disease, Biochim. Biophys. Acta, vol.1828, pp.2815-2827, 2013. ,
Variable phenotype of Alzheimer's disease with spastic paraparesis, J. Neurochem, vol.104, pp.573-583, 2008. ,
, ABCA7 rare variants and Alzheimer disease risk, vol.86, pp.2134-2137, 2016.
URL : https://hal.archives-ouvertes.fr/hal-01831744
17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression, Mol. Psychiatry Lee, vol.3, pp.756-760, 1997. ,
URL : https://hal.archives-ouvertes.fr/hal-01832142
The diagnosis of dementia due to Alzheimer's disease: recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease, Alzheimers Dement. J. Alzheimers Assoc, vol.7, pp.263-269, 2011. ,
SORL1 rare variants: a major risk factor for familial early-onset Alzheimer's disease, Mol. Psychiatry, vol.21, pp.831-836, 2016. ,
Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons, Eur. J. Hum. Genet, vol.24, pp.710-716, 2016. ,
URL : https://hal.archives-ouvertes.fr/hal-01431285
A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene, Neuroreport, vol.7, pp.297-301, 1995. ,
Alzheimer disease PS-1 exon 9 deletion defined, Nat. Med, vol.5, p.1090, 1999. ,
Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia, Brain J. Neurol, vol.134, pp.2456-2477, 2011. ,
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy, Nat. Genet, vol.38, pp.24-26, 2006. ,
De novo deleterious genetic variations target a biological network centered on A? peptide in early-onset Alzheimer disease, Mol. Psychiatry, vol.20, pp.1046-1056, 2015. ,
Potent amyloidogenicity and pathogenicity of A?43, Nat. Neurosci, vol.14, pp.1023-1032, 2011. ,
Splicing mutation of presenilin-1 gene for early-onset familial Alzheimer's disease, Hum. Mutat. Suppl, vol.1, pp.91-94, 1998. ,
Variable phenotype of Alzheimer's disease with spastic paraparesis, Ann. Neurol, vol.49, pp.125-129, 2001. ,
, , p.1, 1999.
, Deltaexon 9 mutation is independent of its defect to undergo proteolytic processing, J. Biol. Chem, vol.274, pp.7615-7618
Qualitative changes in human ?-secretase underlie familial Alzheimer's disease, J. Exp. Med, vol.212, pp.2003-2013, 2015. ,
gamma-Secretase: successive tripeptide and tetrapeptide release from the transmembrane domain of beta-carboxyl terminal fragment, J. Neurosci, vol.29, pp.13042-13052, 2009. ,
Familial Alzheimer's disease mutations in presenilin generate amyloidogenic A? peptide seeds, Neuron, vol.90, pp.410-416, 2016. ,
The large hydrophilic loop of presenilin 1 is important for regulating gamma-secretase complex assembly and dictating the amyloid beta peptide (Abeta) Profile without affecting Notch processing, Biol. Chem, vol.285, pp.8527-8536, 2010. ,
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease, Nat Genet, vol.45, issue.1, pp.5-7, 2013. ,
Variant of TREM2 associated with the risk of Alzheimer's disease, N Engl J Med, vol.368, pp.107-116, 2013. ,
Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease, Nature, vol.505, pp.550-554, 2014. ,
Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease, Nat Genet, vol.45, pp.234-238, 2013. ,
De novo mutations in human genetic disease, Nat Rev Genet, vol.13, pp.565-575, 2012. ,
The diagnosis of dementia due to Alzheimer's disease: recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease, Alzheimers Dement, vol.7, issue.2, pp.3-269, 2011. ,
A domain level interaction network of amyloid precursor protein and Abeta of Alzheimer's disease, Proteomics, vol.10, pp.2377-95, 2010. ,
EHD1 interacts with retromer to stabilize SNX1 tubules and facilitate endosome-to-Golgi retrieval, Traffic, vol.8, pp.1873-1886, 2007. ,
Endosomal recruitment of the WASH complex: active sequences and mutations impairing interaction with the retromer, Biol Cell, vol.105, pp.191-207, 2013. ,
URL : https://hal.archives-ouvertes.fr/hal-01960923
Image-based and biochemical assays to investigate endosomal protein sorting, Methods Enzymol, vol.534, pp.1-5, 2014. ,
The cargo-selective retromer complex is a recruiting hub for protein complexes that regulate endosomal tubule dynamics, J Cell Sci, vol.123, pp.3703-3717, 2010. ,
Membrane recruitment of the cargo-selective retromer subcomplex is catalysed by the small GTPase Rab7 and inhibited by the Rab-GAP TBC1D5, J Cell Sci, vol.122, pp.2371-2382, 2009. ,
Helicobacter pylori CagA inhibits PAR1-MARK family kinases by mimicking host substrates, Nat Struc Mol Biol, vol.17, pp.130-132, 2010. ,
Glide: a new approach for rapid, accurate docking and scoring. 2. Enrichment factors in database screening, J Med Chem, vol.47, pp.1750-1759, 2004. ,
Improved side-chain torsion potentials for the Amber ff99SB protein force field, Proteins, vol.78, pp.1950-1958, 2010. ,
Properties and rates of germline mutations in humans, Trends Genet, vol.29, pp.5-7, 2013. ,
The amyloid hypothesis of Alzheimer's disease: progress and problems on the road to therapeutics, Science, vol.297, pp.3-5, 2002. ,
Amyloid-beta protein precursor gene expression in alzheimer's disease and other conditions, J Alzheimers Dis, vol.28, pp.561-566, 2012. ,
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy, Nature Genet, vol.38, pp.2-4, 2006. ,
APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy, Brain, vol.129, pp.2977-2983, 2006. ,
Conserved role of intragenic DNA methylation in regulating alternative promoters, Nature, vol.466, issue.2, pp.3-257, 2010. ,
An integrated encyclopedia of DNA elements in the human genome, Nature, vol.489, pp.5-7, 2012. ,
Identification of BACE2 as an avid ?-amyloid-degrading protease, Mol Neurodegener, vol.7, p.6, 2012. ,
BACE2 as a novel APP theta-secretase, is not responsible for the pathogenesis of Alzheimer's disease in Down syndrome, FASEB J, vol.20, pp.1369-1376, 2006. ,
A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene, Neuroreport, vol.7, issue.2, pp.7-301, 1995. ,
The biological and pathological function of the presenilin-1 Deltaexon 9 mutation is independent of its defect to undergo proteolytic processing, J Biol Chem, vol.274, pp.7615-7618, 1999. ,
The neuronal sortilinrelated receptor SORL1 is genetically associated with Alzheimer disease, Nat Genet, vol.39, pp.168-177, 2007. ,
High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease, Mol Psychiatry, vol.17, issue.8, pp.5-879, 2012. ,
URL : https://hal.archives-ouvertes.fr/hal-00965204
Retromer-mediated endosomal protein sorting: all WASHed up!, Trends Cell Biol, vol.23, pp.5-7, 2013. ,
Retromer binding to FAM21 and the WASH complex Is perturbed by the Parkinson diseaselinked VPS35(D620N) mutation, Curr Biol, vol.24, pp.1-6, 2014. ,
Mutation in VPS35 associated with Parkinson's disease impairs WASH complex association and inhibits autophagy, Nat Commun, vol.5, p.3828, 2014. ,
Model-guided microarray implicates the retromer complex in Alzheimer's disease, Ann Neurol, vol.58, pp.909-919, 2005. ,
Retromer deficiency observed in Alzheimer's disease causes hippocampal dysfunction, neurodegeneration, and Abeta accumulation, Proc Natl Acad Sci, vol.105, pp.7327-7332, 2008. ,
Retromer disruption promotes amyloidogenic APP processing, Neurobiol Dis, vol.43, pp.338-345, 2011. ,
VPS35 haploinsufficiency increases Alzheimer's disease neuropathology, J Cell Biol, vol.195, pp.765-779, 2011. ,
The location and trafficking routes of the neuronal retromer and its role in amyloid precursor protein transport, Neurobiol Dis, vol.47, pp.1-2, 2012. ,
Amyloid precursor protein (APP) traffics from the cell surface via endosomes for amyloid beta (Abeta) production in the trans-Golgi network, Proc Natl Acad Sci, vol.109, pp.2077-2082, 2012. ,
Diabetesassociated SorCS1 regulates Alzheimer's amyloid-beta metabolism: evidence for involvement of SorL1 and the retromer complex, J Neurosci, vol.30, pp.13110-13115, 2010. ,
Retrieval of the Alzheimer's amyloid precursor protein from the endosome to the TGN is S655 phosphorylation state-dependent and retromer-mediated, Mol Neurodegener, vol.5, p.40, 2010. ,
Retromer binds the FANSHY sorting motif in SorLA to regulate amyloid precursor protein sorting and processing, J Neurosci, vol.32, pp.1467-1480, 2012. ,
Pharmacological chaperones stabilize retromer to limit APP processing, Nat Chem Biol, vol.10, pp.443-449, 2014. ,
MARKing tau for tangles and toxicity, Trends Biochem Sci, vol.29, pp.548-555, 2004. ,
Role of individual MARK isoforms in phosphorylation of tau at Ser(2)(6)(2) in Alzheimer's disease, Neuromol Med, vol.15, pp.4-5, 2013. ,
A critical role for the PAR-1/ MARK-tau axis in mediating the toxic effects of Abeta on synapses and dendritic spines, Hum Mol Genet, vol.21, pp.1-3, 2012. ,
Tau Ser262 phosphorylation is critical for Abeta42induced tau toxicity in a transgenic Drosophila model of Alzheimer's disease, Hum Mol Genet, vol.19, pp.2947-2957, 2010. ,
PAR-1 kinase plays an initiator role in a temporally ordered phosphorylation process that confers tau toxicity in Drosophila, Cell, vol.116, pp.6-7, 2004. ,
Microtubule affinity-regulating kinase 4: structure, function, and regulation, Cell Biochem Biophys, vol.67, pp.485-499, 2013. ,
A conserved docking motif in MAP kinases common to substrates, activators and regulators, Nat Cell Biol, vol.2, pp.110-116, 2000. ,
The contribution of de novo coding mutations to autism spectrum disorder, Nature, vol.515, issue.2, pp.1-6, 2014. ,
Synaptic, transcriptional and chromatin genes disrupted in autism, Nature, vol.515, pp.209-215, 2014. ,
De novo gene disruptions in children on the autistic spectrum, Neuron, vol.74, issue.2, pp.5-299, 2012. ,
Patterns and rates of exonic de novo mutations in autism spectrum disorders, Nature, vol.485, pp.242-245, 2012. ,
URL : https://hal.archives-ouvertes.fr/inserm-00939274
De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French Alzheimer's Disease Study Group, J Med Genet, vol.35, pp.672-673, 1998. ,
Very early onset AD with a de novo mutation in the presenilin 1 gene (Met 233 Leu), Neurology, vol.61, pp.1136-1137, 2003. ,
Earlyonset Alzheimer's disease with a de novo mutation in the presenilin 1 gene, Exp Neurol, vol.208, pp.264-268, 2007. ,
A de novo paradigm for mental retardation, Nat Genet, vol.42, pp.1109-1112, 2010. ,
An integrated map of genetic variation from 1,092 human genomes, Genomes Project Consortium, vol.491, pp.56-65, 2012. ,
A global reference for human genetic variation, Nature, vol.526, pp.68-74, 2015. ,
New insights into the generation and role of de novo mutations in health and disease, Genome Biol, vol.17, p.241, 2016. ,
Predicting functional effect of human missense mutations using PolyPhen-2, Curr. Protoc. Hum. Genet. Chapter, p.20, 2013. ,
Familial early-onset dementia with complex neuropathologic phenotype and genomic background, Neurobiol. Aging, vol.42, pp.199-204, 2016. ,
Genome structural variation discovery and genotyping, Nat. Rev. Genet, vol.12, pp.363-376, 2011. ,
An English translation of Alzheies pape, Ue eie eigeaatige Ekaakug de Hiide, Cli. Aat. N. Y. N, vol.8, pp.429-431, 1995. ,
Neuronal sorting protein-related receptor sorLA/LR11 regulates processing of the amyloid precursor protein, Proc. Natl. Acad. Sci. U. S. A, vol.102, pp.13461-13466, 2005. ,
Risk factor SORL1: from genetic association to futioal alidatio i Alzheies disease, Ata Neuopathol. Bel, vol.132, pp.653-665, 2016. ,
CANOES: detecting rare copy number variants from whole exome sequencing data, Nucleic Acids Res, vol.42, p.97, 2014. ,
An atomic structure of human ?-secretase, Nature, vol.525, pp.212-217, 2015. ,
Detecting rare variant effects using extreme phenotype sampling in sequencing association studies, Genet. Epidemiol, vol.37, pp.142-151, 2013. ,
Regulation of AMPA receptor endocytosis by a signaling mechanism shared with LTD, Nat. Neurosci, vol.3, pp.1291-1300, 2000. ,
The toxic A? oligoe aad Alzheies disease: aa emperor in need of clothes, Nat. Neurosci, vol.15, pp.349-357, 2012. ,
Toward the 1,000 dollars human genome, Pharmacogenomics, vol.6, pp.373-382, 2005. ,
Amyloid-? and tau: the trigger and bullet in Alzheimer disease pathogenesis, JAMA Neurol, vol.71, pp.505-508, 2014. ,
Genetic interaction networks: better understand to better predict, p.290, 2013. ,
Neuropathological stageing of Alzheimer-related changes, Acta Neuropathol. (Berl.), vol.82, pp.239-259, 1991. ,
Alzheimer risk associated with a copy number variation in the complement receptor 1 increasing C3b/C4b binding sites, Mol. Psychiatry, vol.17, pp.223-233, 2012. ,
Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort, Hum. Mutat, vol.36, pp.1226-1235, 2015. ,
Molecular genetics of early-onset Alzheies disease eisited, Alzheies Deet. J. Alzheies Asso, vol.12, pp.733-748, 2016. ,
Lysosomal sorting of amyloid-? by the SORLA eepto is ipaied a failial Alzheies disease utatio, 2014. ,
Release of excess amyloid beta protein from a mutant amyloid beta protein precursor, Science, vol.259, pp.514-516, 1993. ,
Tangle-bearing neurons survive despite disruption of membrane integrity in a mouse model of tauopathy, J. Neuropathol. Exp. Neurol, vol.68, pp.757-761, 2009. ,
Properties and rates of germline mutations in humans, Trends Genet. TIG, vol.29, pp.575-584, 2013. ,
Characterization of single-nucleotide polymorphisms in coding regions of human genes, Nat. Genet, vol.22, pp.231-238, 1999. ,
Mechanisms underlying structural variant formation in genomic disorders, Nat. Rev. Genet, vol.17, pp.224-238, 2016. ,
Congruency in the prediction of pathogenic missense mutations: state-of-the-art web-based tools, Brief. Bioinform, vol.14, pp.448-459, 2013. ,
Genetic variation and the de novo assembly of human genomes, Nat. Rev. Genet, vol.16, pp.627-640, 2015. ,
A genome-wide study shows a limited contribution of aae op ue aaiaats to Alzheies disease isk, Hum. Mol. Genet, vol.22, pp.816-824, 2013. ,
Genome-wide, high-content siRNA screening identifies the Alzheies geeti isk faato FE'MT as a ajo odulato of APP etaaolis, Ata Neuopathol, 2016. ,
The mechanism of ?-Secretase dysfunction in familial Alzheimer disease, EMBO J, vol.31, pp.2261-2274, 2012. ,
The impact of structural variation on human gene expression, Nat. Genet, 2017. ,
Mutation of the beta-amyloid precursor protein in familial Alzheies disease ieases eta-protein production, Nature, vol.360, pp.672-674, 1992. ,
Mutaat peseilis of Alzheies disease iease podutio of 42-residue amyloid beta-protein in both transfected cells and transgenic mice, Nat. Med, vol.3, pp.67-72 ,
Purification of tau, a microtubule-associated protein that induces assembly of microtubules from purified tubulin, J. Mol. Biol, vol.116, pp.207-225, 1977. ,
Refining analyses of copy number variation identifies specific genes associated with developmental delay, Nat. Genet, vol.46, pp.1063-1071, 2014. ,
Microglia constitute a barrier that prevents neurotoxic protofibrillar A?42 hotspots around plaques, Nat. Commun, vol.6, p.6176, 2015. ,
Origins and functional impact of copy number variation in the human genome, Nature, vol.464, pp.704-712, 2010. ,
Primary age-related tauopathy (PART): a common pathology associated with human aging, Acta Neuropathol. (Berl.), vol.128, pp.755-766, 2014. ,
A variant of Alzheies disease ith spasti paapaaesis aad unusual plaques due to deletion of exon 9 of presenilin 1, Nat. Med, vol.4, pp.452-455, 1998. ,
Rare coding variants in the phospholipase D3 gene confer risk for Alzheies disease, Natue, vol.505, pp.550-554, 2014. ,
Geeti aaiatios udelig Alzheies disease: eidee fo genome-wide association studies and beyond, Lancet Neurol, vol.15, pp.857-868 ,
, Mutations in ABCA7 i a Belgiaa ohot of Alzheies disease patiets: a taageted eseueig stud, vol.14, pp.814-822, 2015.
Inhibition of neuronal maturation in primary hippocampal neurons from tau deficient mice, J. Cell Sci, vol.114, pp.1179-1187, 2001. ,
Pathogenic APP mutations near the gamma-secretase cleavage site differentially affect Abeta secretion and APP C-terminal fragment stability, Hum. Mol. Genet, vol.10, pp.1665-1671, 2001. ,
Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein, Nature, vol.391, pp.387-390, 1998. ,
The biochemical pathway of neurofibrillary degeneration in agig aad Alzheies disease, Neuolog, vol.52, pp.1158-1165, 1999. ,
miRNA-dependent target regulation: functional characterization of single-nucleotide polymorphisms identified in genome-ide assoiatio studies of Alzheies disease, Alzheies 'es. The, vol.8, p.20, 2016. ,
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study, Science, vol.354, 2016. ,
Loss of LR11/SORLA enhances early pathology in a mouse model of amyloidosis: evidence fo a poial ole i Alzheies disease, J. Neuosi. Off. J. "o. Neuosi, vol.28, pp.12877-12886, 2008. ,
Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies, Hum. Mol. Genet, vol.24, pp.2125-2137, 2015. ,
Functional screening of Alzheimer risk loci identifies PTK2B as an in vivo modulator and early marker of Tau pathology, Mol. Psychiatry, 2016. ,
Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques, Hum. Mutat, vol.27, p.1063, 2006. ,
Distinct Functions for Anterograde and Retrograde Sorting of SORLA in Amyloidogenic Processes in the Brain, J. Neurosci. Off. J. Soc. Neurosci, vol.35, pp.12703-12713, 2015. ,
, , 1985.
, Cortical atrophy in senile dementia of the Alzheimer type is mainly due to a decrease in cortical length, Acta Neuropathol. (Berl.), vol.66, pp.72-74
,
, Rev. Neurol. (Paris), vol.155, pp.17-27
Reinsertion or degradation of AMPA receptors determined by activitydependent endocytic sorting, Neuron, vol.28, pp.511-525, 2000. ,
Sensitive ELISA detection of amyloid-beta protofibrils in biological samples, J. Neurochem, vol.103, pp.334-345, 2007. ,
Differential incorporation of tau isofos i Alzheies disease, J. Alzheies Dis. JAD, vol.14, pp.1-16, 2008. ,
PLD3 gene and processing of APP, Nature, vol.541, pp.1-2, 2017. ,
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources, Am. J. Hum. Genet, vol.84, pp.524-533, 2009. ,
Current Research Therapeutic Strategies for Alzheies Disease Teatet, Neual Plast, p.8501693, 2016. ,
Activity-dependent tau protein translocation to excitatory synapse is disrupted by exposure to amyloid-beta oligomers, J. Neurosci. Off. J. Soc. Neurosci, vol.34, pp.6084-6097, 2014. ,
Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth, Am. J. Hum. Genet, vol.91, pp.597-607, 2012. ,
De novo mutations in schizophrenia implicate synaptic networks, Nature, vol.506, pp.179-184, 2014. ,
ABCA7 Mediates Phagocytic Clearance of Amyloid-? in the Brain, J. Alzheimers Dis. JAD, vol.54, pp.569-584, 2016. ,
14-3-3 proteins and protein phosphatases are not reduced in tau-deficient mice, Neuroreport, vol.18, pp.1049-1052, 2007. ,
Centenarians as super-controls to assess the biological relevance of genetic risk factors for common age-related diseases: a proof of principle on type 2 diabetes, Aging, vol.5, pp.373-385, 2013. ,
APOE and Alzheimer disease: a major gene with semi-dominant inheritance, Mol. Psychiatry, vol.16, pp.903-907, 2011. ,
DOI : 10.1038/mp.2011.52
URL : https://www.nature.com/articles/mp201152.pdf
Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia, Nat. Neurosci, vol.19, pp.1433-1441, 2016. ,
Rare and common variants: twenty arguments, Nat. Rev. Genet, vol.13, pp.135-145, 2012. ,
DOI : 10.1038/nrg3118
URL : http://europepmc.org/articles/pmc4408201?pdf=render
Alzheies disease: iitial epot of the puifiation and characterization of a novel cerebrovascular amyloid protein, Biochem. Biophys. Res. Commun, vol.120, pp.885-890 ,
The human disease network, Proc. Natl. Acad. Sci. U. S. A, vol.104, pp.8685-8690, 2007. ,
Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel, Am. J. Hum. Genet, vol.88, pp.440-449, 2011. ,
Endoplasmic reticulum and trans-Golgi network generate distinct populations of Alzheimer beta-amyloid peptides, Proc. Natl. Acad. Sci. U. S. A, vol.96, pp.742-747, 1999. ,
,
, EM aaiaats i Alzheies disease. N. Egl. J. Med, vol.368, pp.117-127
Geeti seeig of Alzheies disease gees i Ieiaa aad African samples yields novel mutations in presenilins and APP, Neurobiol. Aging, vol.31, pp.725-731 ,
, ADNI the Alzheies Disease Neuoiagig Iitiatie
, Ieased CNVregion deletions in mild cognitive impairment (MCI) ad Alzheies disease AD sujets i the ADNI sample, Genomics, vol.102, pp.112-122
Amyloid-?-Induced Dysregulation of AMPA Receptor Trafficking, Neural Plast, p.3204519, 2016. ,
Comparative study of exome copy number variation estimation tools using array comparative genomic hybridization as control, BioMed Res. Int, p.915636, 2013. ,
Trafficking and proteolytic processing of APP. Cold Spring Harb, Perspect. Med, vol.2, p.6270, 2012. ,
Altered microtubule organization in small-calibre axons of mice lacking tau protein, Nature, vol.369, pp.488-491, 1994. ,
Alzheies disease: the aloid asade hpothesis, vol.256, pp.184-185 ,
, , 2009.
, Genome-wide association study identifies aaiaats at CLU aad PICALM assoiated ith Alzheies disease, Nat. Geet, vol.41, pp.1088-1093
High-Resolution CRISPR Screens Reveal Fitness Genes and Genotype-Specific Cancer Liabilities, Cell, vol.163, pp.1515-1526, 2015. ,
Transient increases in intracellular calcium result in prolonged site-selective increases in Tau phosphorylation through a glycogen synthase kinase 3betadependent pathway, J. Biol. Chem, vol.274, pp.21395-21401, 1999. ,
Distit sites of ittaaellulaa podutio fo Alzheies disease A beta40/42 amyloid peptides, Nat. Med, vol.3, pp.1016-1020 ,
Mechanisms of change in gene copy number, Nat. Rev. Genet, vol.10, pp.551-564, 2009. ,
Stabilization of Ca2+-permeable AMPA receptors at perisynaptic sites by GluR1-S845 phosphorylation, Proc. Natl. Acad. Sci. U. S. A, vol.106, 2009. ,
DOI : 10.1073/pnas.0910338106
URL : http://www.pnas.org/content/106/47/20033.full.pdf
Exome sequencing and whole genome sequencing for the detection of copy number variation, Expert Rev. Mol. Diagn, vol.15, pp.1023-1032, 2015. ,
, PLD3 in non-failial Alzheies disease, vol.520, pp.3-5, 2015.
DOI : 10.1038/nature14039
, Ceeospial fluid solule T'EM i agig aad Alzheies disease. Alzheies 'es. The. 8, p.17, 2016.
Advantages and limitations of next-generation sequencing technologies: a comparison of electrophoresis and non-electrophoresis methods, Electrophoresis, vol.29, pp.4618-4626, 2008. ,
Increased cerebrospinal fluid soluble TREM2 oetatio i Alzheies disease, Mol. Neuodegee, vol.11, p.3, 2016. ,
DOI : 10.1186/s13024-016-0071-x
URL : https://molecularneurodegeneration.biomedcentral.com/track/pdf/10.1186/s13024-016-0071-x?site=molecularneurodegeneration.biomedcentral.com
, , 2007.
, Ho oo aae the oo euologi disodes? Neuolog 68, pp.326-337
, Common variants at ABCA7, M"AA/M"AE, EPHA, CD aad CDAP aae assoiated ith Alzheies disease, vol.43, pp.429-435, 2011.
Prion-like properties of Tau protein: the importance of extracellular Tau as a therapeutic target, J. Biol. Chem, vol.289, pp.19855-19861, 2014. ,
Rare autosomal copy number variations in earlyonset familial Alzheies disease, Mol. Pshiatt, vol.19, pp.676-681, 2014. ,
, PLD3 gene aaiaats aad Alzheies disease, vol.520, pp.7-8, 2015.
Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants, Hum. Mutat, vol.33, pp.1228-1238, 2012. ,
Characterising and predicting haploinsufficiency in the human genome, PLoS Genet, vol.6, 2010. ,
, ApoE2, ApoE3, and ApoE4 Differentially Stimulate APP Transcription and A? Secretion, vol.168, pp.427-441, 2017.
Detection of large-scale variation in the human genome, Nat. Genet, vol.36, pp.949-951, 2004. ,
Integrating common and rare genetic variation in diverse human populations, Nature, vol.467, pp.52-58, 2010. ,
, Finishing the euchromatic sequence of the human genome, International Human Genome Sequencing Consortium, vol.431, pp.931-945, 2004.
The contribution of de novo coding mutations to autism spectrum disorder, Nature, vol.515, pp.216-221, 2014. ,
Suspected non-Alzheimer disease pathophysiologyconcept and controversy, Nat. Rev. Neurol, vol.12, pp.117-124, 2016. ,
TREM2 deficiency eliminates TREM2+ inflammatory aaophages aad aelioates patholog i Alzheies disease mouse models, J. Exp. Med, vol.212, pp.287-295, 2015. ,
In silico prediction of splice-altering single nucleotide variants in the human genome, Nucleic Acids Res, vol.42, pp.13534-13544, 2014. ,
Codig aaiaats i T'EM iease isk fo Alzheies disease, Hu. Mol. Genet, vol.23, pp.5838-5846 ,
A utatio i APP potets agaist Alzheies disease and age-related cognitive decline, Nature, vol.488, pp.96-99 ,
Variant of TREM2 associated with the risk of Alzheies disease, N. Egl. J. Med, vol.368, pp.107-116, 2013. ,
A novel Alzheimer disease locus located near the gene encoding tau protein, Mol. Psychiatry, vol.21, pp.108-117, 2016. ,
Exome sequence read depth methods for identifying copy number changes, Brief. Bioinform, vol.16, pp.380-392, 2015. ,
Dimeric amyloid beta protein rapidly accumulates in lipid rafts followed by apolipoprotein E and phosphorylated tau accumulation in the Tg2576 mouse model of Alzheies disease, J. Neuosi. Off. J. "o. Neuosi, vol.24, pp.3801-3809, 2004. ,
Common structure of soluble amyloid oligomers implies common mechanism of pathogenesis, Science, vol.300, pp.486-489, 2003. ,
Genetics. Gamma-secretase and human disease, Science, vol.330, pp.1055-1056, 2010. ,
Quantitation of ATP-binding cassette subfamily-A transporter gene expression in primary human brain cells, Neuroreport, vol.17, pp.891-896, 2006. ,
Deletion of Abca7 increases cerebral amyloid-? accuulatio i the J ouse odel of Alzheies disease, J. Neurosci. Off. J. Soc. Neurosci, vol.33, pp.4387-4394, 2013. ,
A geeal framework for estimating the relative pathogenicity of human genetic variants, Nat. Genet, vol.46, pp.310-315 ,
De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia, Mol. Psychiatry, vol.17, pp.142-153, 2012. ,
TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis, Sci. Transl. Med, vol.6, pp.243-86, 2014. ,
The role of ATP-binding cassette transporter A1 in Alzheies disease aad euodegeeatio, Biochim. Biophys. Acta, vol.1801, pp.824-830, 2010. ,
Rate of de novo mutations and the ipotaae of fathes age to disease isk, Natue, vol.488, pp.471-475, 2012. ,
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism, Nat. Genet, vol.38, pp.999-1001, 2006. ,
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome, Nat. Genet, vol.44, pp.639-641, 2012. ,
Invited review: Neuropathology of tauopathies: principles and practice, Neuropathol. Appl. Neurobiol, vol.41, pp.3-23, 2015. ,
Copy number variation detection and genotyping from exome sequence data, Genome Res, vol.22, pp.1525-1532, 2012. ,
ADAM10 is the physiologically relevant, constitutive alpha-secretase of the amyloid precursor protein in primary neurons, EMBO J, vol.29, pp.3020-3032, 2010. ,
Single nucleotide polymorphism arrays: a decade of biological, computational and technological advances, Nucleic Acids Res, vol.37, pp.4181-4193, 2009. ,
, , 2009.
, Genome-wide association study identifies variants at CLU aad C'' assoiated ith Alzheies disease, Nat. Geet, vol.41, pp.1094-1099
Meta-analysis of 74,046 individuals idetifies e suseptiilitt loi fo Alzheies disease, Nat. Geet, vol.45, pp.1452-1458, 2013. ,
, , 2013.
, Genome-wide haplotype association study idetifies the F'MDA gee as a isk lous fo Alzheies disease, Mol. Pshiatt, vol.18, pp.461-470
PLD aad spoadi Alzheies disease isk, Natue, vol.520, p.1 ,
Monoclonal antibodies that target pathological assemblies of Abeta, J. Neurochem, vol.100, pp.23-35, 2007. ,
Initial sequencing and analysis of the human genome, Nature, vol.409, pp.860-921, 2001. ,
APP, PSEN1, and PSEN2 mutations in earlyonset Alzheimer disease: A genetic screening study of familial and sporadic cases, PLoS Med, vol.14, p.1002270, 2017. ,
Cellular prion protein mediates impairment of synaptic plasticity by amyloid-beta oligomers, Nature, vol.457, pp.1128-1132, 2009. ,
LUMPY: a probabilistic framework for structural variant discovery, Genome Biol, vol.15, p.84, 2014. ,
duplication causes prominent tau-related dementia with increased MAPT expression, Mol. Psychiatry, 2016. ,
URL : https://hal.archives-ouvertes.fr/hal-01832142
Neurotoxicity induces cleavage of p35 to p25 by calpain, Nature, vol.405, pp.360-364, 2000. ,
Rare-variant association analysis: study designs and statistical tests, Am. J. Hum. Genet, vol.95, pp.5-23, 2014. ,
, PLD3 variants in population studies, vol.520, pp.2-3, 2015.
Analysis of protein-coding genetic variation in 60,706 humans, Nature, vol.536, pp.285-291, 2016. ,
Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications, Am. J. Psychiatry, vol.168, pp.302-316, 2011. ,
Fast and accurate short read alignment with Burrows-Wheeler transform, Bioinforma. Oxf. Engl, vol.25, pp.1754-1760, 2009. ,
CONTRA: copy number analysis for targeted resequencing, Bioinforma. Oxf. Engl, vol.28, pp.1307-1313, 2012. ,
A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases, Nucleic Acids Res, vol.40, p.53, 2012. ,
Soluble A? oligomers inhibit long-term potentiation through a mechanism involving excessive activation of extrasynaptic NR2B-containing NMDA receptors, J. Neurosci. Off. J. Soc. Neurosci, vol.31, pp.6627-6638, 2011. ,
Integrated copy number and gene expression analysis detects a C'EB assoiatio ith Alzheies disease, Taasl. Pshiatt, vol.2, p.192, 2012. ,
A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration, Cell, vol.125, pp.801-814, 2006. ,
dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations, Hum. Mutat, vol.34, pp.2393-2402, 2013. ,
The Notch1 receptor is cleaved constitutively by a furin-like convertase, Proc. Natl. Acad. Sci. U. S. A, vol.95, pp.8108-8112, 1998. ,
Rare Genetic Variant in "O'L Ma Iease Peetaae of Alzheies Disease i a Family with Several Generations of APOE-?4 Homozygosity, J. Alzheimers Dis. JAD, vol.56, pp.63-74, 2017. ,
A systematic survey of loss-of-function variants in human protein-coding genes, Science, vol.335, pp.823-828, 2012. ,
The Database of Genomic Variants: a curated collection of structural variation in the human genome, Nucleic Acids Res, vol.42, pp.986-992, 2014. ,
The CAMKK2-AMPK kinase pathway mediates the synaptotoxic effects of A? oligomers through Tau phosphorylation, Neuron, vol.78, pp.94-108, 2013. ,
MGP-HMM: Detecting genome-wide CNVs using an HMM for modeling mate pair insertion sizes and read counts, Math. Biosci, vol.279, pp.53-62, 2016. ,
Finding the missing heritability of complex diseases, Nature, vol.461, pp.747-753, 2009. ,
Clinical diagosis of Alzheies disease: epot of the NINCD"-ADRDA Work Group under the auspices of Depaatet of Health aad Huaa "eies Task Foe o Alzheies Disease, Neuolog, vol.34, pp.939-944, 1984. ,
The diagosis of deetia due to Alzheies disease: recommendations from the National Institute on Aging-Alzheies Assoiatio okgoups o diagosti guidelies fo Alzheies disease, Alzheies Deet. J. Alzheies Asso, vol.7, pp.263-269, 2011. ,
Systematic dissection and optimization of inducible enhancers in human cells using a massively parallel reporter assay, Nat. Biotechnol, vol.30, pp.271-277, 2012. ,
Whole-genome sequencing in autism identifies hot spots for de novo germline mutation, Cell, vol.151, pp.1431-1442, 2012. ,
Gene set analysis: A step-by-step guide, Am. J. Med. Genet. Part B Neuropsychiatr. Genet. Off. Publ. Int. Soc. Psychiatr. Genet, vol.168, pp.517-527, 2015. ,
Inconsistencies and controversies surrounding the aaloid hpothesis of Alzheies disease, Ata Neuopathol. Cou, vol.2, p.135, 2014. ,
Neurons may live for decades with neurofibrillary tangles, J. Neuropathol. Exp. Neurol, vol.58, pp.188-197, 1999. ,
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-oset Alzheies disease, Nat. Geet, vol.43, pp.436-441, 2011. ,
aad Alzheies Disease Geetis Cosotiu ADGC. Geoi aaiaats, gees, aad pathaas of Alzheies disease: A oeiew, Am. J. Med. Genet. Part B Neuropsychiatr. Genet. Off. Publ. Int. Soc. Psychiatr. Genet, vol.174, pp.5-26 ,
Evaluation of somatic copy number estimation tools for whole-exome sequencing data, Brief. Bioinform, vol.17, pp.185-192, 2016. ,
Accounting for human polymorphisms predicted to affect protein function, Genome Res, vol.12, pp.436-446, 2002. ,
SIFT: Predicting amino acid changes that affect protein function, Nucleic Acids Res, vol.31, pp.3812-3814, 2003. ,
Targeted capture and massively parallel sequencing of 12 human exomes, Nature, vol.461, pp.272-276, 2009. ,
Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons, Eur. J. Hum. Genet. EJHG, vol.24, pp.710-716, 2016. ,
URL : https://hal.archives-ouvertes.fr/hal-01431285
SORL1 rare variants: a major risk factor for familial early-oset Alzheies disease, Mol. Psychiatry, vol.21, pp.831-836, 2016. ,
Mutatio i the uttaaslated egio of APP as a geeti determinant of cerebral amyloid angiopathy, Eur. J. Hum. Genet. EJHG, vol.24, pp.92-98 ,
The Ati APP utatio EG auses Alzheies disease ehaaed Aeta potofiil foatio, Nat. Neuosi, vol.4, pp.887-893 ,
Tau aggregation and its interplay with amyloid-?, Acta Neuropathol. (Berl.), vol.129, pp.207-220, 2015. ,
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders, Science, vol.343, pp.506-511, 2014. ,
Extrasynaptic membrane trafficking regulated by GluR1 serine 845 phosphorylation primes AMPA receptors for long-term potentiation, J. Biol. Chem, vol.281, pp.752-758, 2006. ,
Mutant presenilin 2 transgenic mouse: effect on an age-dependent increase of amyloid beta-protein 42 in the brain, J. Neurochem, vol.71, pp.313-322, 1998. ,
Massively parallel functional dissection of mammalian enhancers in vivo, Nat. Biotechnol, vol.30, pp.265-270, 2012. ,
A utatio i Alzheies disease desttoig a splie aaepto site i the presenilin-1 gene, Neuroreport, vol.7, pp.297-301 ,
Cerebrospinal fluid soluble TREM2 is higher in Alzheimer disease and associated with mutation status, Acta Neuropathol. (Berl.), vol.131, pp.925-933, 2016. ,
Comparative genomic hybridization, Annu. Rev. Genomics Hum. Genet, vol.6, pp.331-354, 2005. ,
A robust model for read count data in exome sequencing experiments and implications for copy number variant calling, Bioinforma. Oxf. Engl, vol.28, pp.2747-2754, 2012. ,
Novel Findings from CNVs Implicate Inhibitory and Excitatory Signaling Complexes in Schizophrenia, Neuron, vol.86, pp.1203-1214, 2015. ,
Amyloid-? potei peuso gee epessio i alzheies disease aad other conditions, J. Alzheimers Dis. JAD, vol.28, pp.561-566, 2012. ,
High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease, Mol. Psychiatry, vol.17, pp.875-879, 2012. ,
URL : https://hal.archives-ouvertes.fr/hal-00965204
Tau is essential to betaamyloid-induced neurotoxicity, Proc. Natl. Acad. Sci. U. S. A, vol.99, pp.6364-6369, 2002. ,
Global variation in copy number in the human genome, Nature, vol.444, pp.444-454, 2006. ,
The role of the retromer complex in aging-related neurodegeneration: a molecular and genomic review, Mol. Genet. Genomics MGG, vol.290, pp.413-427, 2015. ,
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, Genet. Med. Off. J. Am. Coll. Med. Genet, vol.17, pp.405-424, 2015. ,
More evidence for association of a rare TREM2 mutation ''H ith Alzheies disease isk, Neurobiol. Aging, vol.36, pp.2443-2464, 2015. ,
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy, Nat. Genet, vol.38, pp.24-26, 2006. ,
A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease, Eur. J. Hum. Genet. EJHG, vol.20, pp.613-617, 2012. ,
URL : https://hal.archives-ouvertes.fr/hal-00965208
De novo deleterious genetic variations target a biological network centered on A? peptide in early-onset Alzheimer disease, Mol. Psychiatry, vol.20, pp.1046-1056, 2015. ,
Patterns of genic intolerance of rare copy number variation in 59,898 human exomes, Nat. Genet, vol.48, pp.1107-1111, 2016. ,
Potent amyloidogenicity and pathogenicity of A?43, Nat. Neurosci, vol.14, pp.1023-1032, 2011. ,
cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data, BMC Genomics, vol.17, p.51, 2016. ,
A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase, J. Mol. Biol, vol.94, pp.441-448, 1975. ,
DNA sequencing with chain-terminating inhibitors, Proc. Natl. Acad. Sci. U. S. A, vol.74, pp.5463-5467, 1977. ,
Restricted Location of PSEN2/?-Secretase Determines Substrate Specificity and Generates an Intracellular A? Pool, Cell, vol.166, pp.193-208, 2016. ,
Splicing mutation of presenilin-1 gene for early-oset faailial Alzheies disease, Hu. Mutat. Suppl, vol.1, pp.91-94, 1998. ,
ATP-binding cassette transporter A7 (ABCA7) loss of function alters Alzheimer amyloid processing, J. Biol. Chem, vol.290, pp.24152-24165, 2015. ,
Mutant presenilin 2 transgenic mice. A large increase in the levels of Abeta 42 is presumably associated with the low density membrane domain that contains decreased levels of glycerophospholipids and sphingomyelin, J. Biol. Chem, vol.275, pp.27901-27908, 2000. ,
Association of an apolipoprotein CII allele with familial dementia of the Alzheimer type, J. Neurogenet, vol.4, pp.97-108, 1987. ,
Secreted amyloid beta-protein similar to that in the senile plaques of Alzheies disease is ieased i io the presenilin 1 and 2 and APP mutations linked to familial Alzheies disease, Nat. Med, vol.2, pp.864-870, 1996. ,
Relating CNVs to transcriptome data at fine resolution: assessment of the effect of variant size, type, and overlap with functional regions, Genome Res, vol.21, 2004. ,
, Excess of rare coding variants in PLD3 in late-but not early-onset Alzheies disease. Hu. Geoe Vaa, vol.2, 2015.
MutationTaster evaluates disease-causing potential of sequence alterations, Nat. Methods, vol.7, pp.575-576, 2010. ,
MutationTaster2: mutation prediction for the deep-sequencing age, Nat. Methods, vol.11, pp.361-362, 2014. ,
The retromer complex-endosomal protein recycling and beyond, J. Cell Sci, vol.125, pp.4693-4702, 2012. ,
Large-scale copy number polymorphism in the human genome, Science, vol.305, pp.525-528, 2004. ,
, , 2010.
, Genome-wide analysis of genetic loci associated with Alzheimer disease, JAMA, vol.303, pp.1832-1840
Natural oligomers of the Alzheimer amyloid-beta protein induce reversible synapse loss by modulating an NMDA-type glutamate receptor-dependent signaling pathway, J. Neurosci. Off. J. Soc. Neurosci, vol.27, pp.2866-2875, 2007. ,
Amyloid-beta protein dimers isolated directly from Alzheies ais ipai sapti plastiitt aad eo, Nat. Med, vol.14, pp.837-842, 2008. ,
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability, Proc. Natl. Acad. Sci. U. S. A, vol.38, pp.403-409, 2006. ,
Evidence that betaaaloid potei i Alzheies disease is ot deied oal poessig, vol.248, pp.492-495, 1990. ,
Vaaiaale pheottpe of Alzheies disease ith spasti paraparesis, Ann. Neurol, vol.49, pp.125-129 ,
Regulation of NMDA receptor trafficking by amyloid-beta, Nat. Neurosci, vol.8, pp.1051-1058, 2005. ,
Tau phosphorylation regulates the interaction etee BINs "H doai aad Taus polie-rich domain, Acta Neuropathol. Commun, vol.3, p.58, 2015. ,
In vivo imaging reveals dissociation between caspase activation and acute neuronal death in tangle-bearing neurons, J. Neurosci. Off. J. Soc. Neurosci, vol.28, pp.862-867, 2008. ,
The genetic defect causing familial Alzheies disease maps on chromosome 21, Science, vol.235, pp.885-890, 1987. ,
Loss-of-function variants in ABCA ofe isk of Alzheies disease, Nat. Geet, vol.47, pp.445-447, 2015. ,
sTREM2 cerebrospinal fluid levels are a potential biomarker for microglia activity in early-stage Alzheies disease aad assoiate ith neuronal injury markers, EMBO Mol. Med, vol.8, pp.466-476, 2016. ,
Analysis of op ue aaiatio i Alzheies disease i a cohort of clinically characterized and neuropathologically verified individuals, PloS One, vol.7, p.50640, 2012. ,
Aalsis of op ue aaiatio i Alzheies disease: the NIALOAD/ NC'AD Fail, Alzheies Disease Neuoiagig Iitiatie, vol.9, pp.801-814 ,
Qualitative changes in human ?-secretase underlie familial Alzheies disease, Mol. Psychiatry, vol.212, pp.762-773, 2003. ,
DOI : 10.1084/jem.20150892
URL : http://jem.rupress.org/content/jem/212/12/2003.full.pdf
Genome-wide scan for copy number variation association ith age at oset of Alzheies disease, J. Alzheies Dis. JAD, vol.33, pp.517-523, 2013. ,
gamma-Secretase: successive tripeptide and tetrapeptide release from the transmembrane domain of beta-carboxyl terminal fragment, J. Neurosci. Off. J. Soc. Neurosci, vol.29, pp.13042-13052, 2009. ,
An evaluation of copy number variation detection tools from whole-exome sequencing data, Hum. Mutat, vol.35, pp.899-907, 2014. ,
DOI : 10.1002/humu.22537
Cerebrospinal fluid {beta}-amyloid 42 and tau proteins as biomarkers of Alzheimer-type pathologic changes in the brain, Arch. Neurol, vol.66, pp.382-389, 2009. ,
Evolution and functional impact of rare coding variation from deep sequencing of human exomes, Science, vol.337, pp.64-69, 2012. ,
Phases of A beta-deposition in the human brain and its relevance for the development of AD, Neurology, vol.58, pp.1791-1800, 2002. ,
Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vivo, Neuron, vol.17, pp.181-190, 1996. ,
Performance of mutation pathogenicity prediction methods on missense variants, Hum. Mutat, vol.32, pp.358-368, 2011. ,
DOI : 10.1002/humu.21445
URL : http://onlinelibrary.wiley.com/doi/10.1002/humu.21445/pdf
F-box/LRR-repeat protein 7 is genetically assoiated ith Alzheies disease, A. Clin. Transl. Neurol, vol.2, pp.810-820, 2015. ,
DOI : 10.1002/acn3.223
URL : https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.223
Neurotrophins are required for nerve growth during development, Nat. Neurosci, vol.4, pp.29-37, 2001. ,
DOI : 10.1038/82868
Bin1 and CD2AP polarise the endocytic generation of beta-amyloid, EMBO Rep, vol.18, pp.102-122, 2017. ,
DOI : 10.15252/embr.201642738
URL : http://embor.embopress.org/content/18/1/102.full.pdf
The UK10K project identifies rare variants in health and disease, Nature, vol.526, pp.82-90, 2015. ,
Altered microglial response to A? plaques in APPPS1-21 mice heterozygous for TREM2, Mol. Neurodegener, vol.9, p.20, 2014. ,
The genetic landscape of Alzheimer disease: clinical implications and perspectives, Genet. Med. Off. J. Am. Coll. Med. Genet, vol.18, pp.421-430, 2016. ,
From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline, Curr. Protoc. Bioinforma, vol.43, pp.11-21, 2013. ,
Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7, Sci. Rep, vol.6, p.21307, 2016. ,
Coding mutations in SORL1 and Alzheimer disease, Ann. Neurol, vol.77, pp.215-227, 2015. ,
Human ATP-binding cassette (ABC) transporter family, Hum. Genomics, vol.3, pp.281-290, 2009. ,
DOI : 10.1186/1479-7364-3-3-281
URL : https://humgenomics.biomedcentral.com/track/pdf/10.1186/1479-7364-3-3-281
BACE1: the beta-secretase enze i Alzheies disease, J. Mol. Neuosi. MN, vol.23, pp.105-114, 2004. ,
DOI : 10.1186/1750-1326-7-s1-l3
URL : https://molecularneurodegeneration.biomedcentral.com/track/pdf/10.1186/1750-1326-7-S1-L3?site=molecularneurodegeneration.biomedcentral.com
Beta-seetase leaaage of Alzheies aaloid pecursor protein by the transmembrane aspartic protease BACE, Science, vol.286, pp.735-741, 1999. ,
De novo mutations in human genetic disease, Nat. Rev. Genet, vol.13, pp.565-575, 2012. ,
DOI : 10.1038/nrg3241
The sequence of the human genome, Science, vol.291, pp.1304-1351, 2001. ,
URL : https://hal.archives-ouvertes.fr/hal-00465088
Amyloidogenic processing of beta-amyloid precursor protein in intracellular compartments, Neurology, vol.66, pp.69-73, 2006. ,
Familial Alzheies Disease Mutatios i Peseili Geeate Aloidogenic A? Peptide Seeds, Neuron, vol.90, pp.410-416, 2016. ,
Interactome networks and human disease, Cell, vol.144, pp.986-998, 2011. ,
DOI : 10.1016/j.cell.2011.02.016
URL : https://doi.org/10.1016/j.cell.2011.02.016
Massively parallel quantification of the regulatory effects of noncoding genetic variation in a human cohort, Genome Res, vol.25, pp.1206-1214, 2015. ,
Distinct FTDP-17 missense mutations in tau produce tau aggregates and other pathological phenotypes in transfected CHO cells, Mol. Biol. Cell, vol.11, pp.4093-4104, 2000. ,
DOI : 10.1091/mbc.11.12.4093
URL : http://www.molbiolcell.org/content/11/12/4093.full.pdf
The French series of autosomal doiaat eaal oset Alzheies disease ases: utatio spettu aad eeospial fluid biomarkers, J. Alzheimers Dis. JAD, vol.30, pp.847-856, 2012. ,
A beta oligomers-a decade of discovery, J. Neurochem, vol.101, pp.1172-1184, 2007. ,
DOI : 10.1111/j.1471-4159.2006.04426.x
URL : http://onlinelibrary.wiley.com/doi/10.1111/j.1471-4159.2006.04426.x/pdf
Tau in physiology and pathology, Nat. Rev. Neurosci, vol.17, pp.5-21, 2016. ,
DOI : 10.1038/nrn.2015.1
, , 2010.
, Gamma-secretase gene mutations in familial acne inversa, Science, vol.330, p.1065
Amyloid peptide Abeta(1-42) binds selectively and with picomolar affinity to alpha7 nicotinic acetylcholine receptors, J. Neurochem, vol.75, pp.1155-1161, 2000. ,
A review of study designs and statistical methods for genomic epidemiology studies using next generation sequencing, Front. Genet, vol.6, p.149, 2015. ,
TREM2 lipid sensing sustains the microglial espose i aa Alzheies disease odel, Cell, vol.160, pp.1061-1071, 2015. ,
TREM2-mediated early microglial response limits diffusion and toxicity of amyloid plaques, J. Exp. Med, vol.213, pp.667-675, 2016. ,
A protein factor essential for microtubule assembly, Proc. Natl. Acad. Sci. U. S. A, vol.72, pp.1858-1862, 1975. ,
Alzheimer disease: evidence for selective loss of cholinergic neurons in the nucleus basalis, Ann. Neurol, vol.10, pp.122-126, 1981. ,
Two transmembrane aspartates in presenilin-1 required for presenilin endoproteolysis and gammasecretase activity, Nature, vol.398, pp.513-517, 1999. ,
Presenilin-1 knockin mice reveal loss-of-futio ehaais fo failial Alzheies disease, Neuron, vol.85, pp.967-981, 2015. ,
Loss of A?43 Production Caused by Presenilin-1 Mutations in the Knockin Mouse Brain, Neuron, vol.90, pp.417-422, 2016. ,
Induced pluripotent stem cell lines derived from human somatic cells, Science, vol.318, pp.1917-1920, 2007. ,
,
Alzheies disease: aa update, Au. 'e. Neurosci, vol.37, pp.79-100 ,
A critical role for the PAR1/MARK-tau axis in mediating the toxic effects of A? on synapses and dendritic spines, Hum. Mol. Genet, vol.21, pp.1384-1390, 2012. ,
TREM2 Haplodeficiency in Mice and Humans Impairs the Microglia Barrier Function Leading to Decreased Amyloid Compaction and Severe Axonal Dystrophy, Neuron, vol.92, pp.252-264, 2016. ,
Non-Coding Loss-of-Function Variation in Human Genomes, Hum. Hered, vol.81, pp.78-87, 2016. ,
A copy number variation map of the human genome, Nat. Rev. Genet, vol.16, pp.172-183, 2015. ,
PLD i Alzheies Disease: a Modest Effect as Revealed by Updated Association and Expression Analyses, Mol. Neurobiol, vol.53, pp.4034-4045 ,
,
, Modelig Alzheies Disease ith Induced Pluripotent Stem Cells: Current Challenges and Future Concerns, Stem Cells Int, p.7828049, 2016.
Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives, BMC Bioinformatics, vol.14, p.1, 2013. ,
Soluble TREM2 induces inflammatory responses and enhances microglial survival, J. Exp. Med, vol.214, pp.597-607, 2017. ,
C' i Alzheies disease, Mol. Neurobiol, vol.51, pp.753-765 ,
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype, Nat. Genet, vol.44, pp.636-638, 2012. ,