En rouge, les enzymes impliquées dans cette voie de synthèse, Figure 5. Schéma simplifié de la voie de synthèse des céramides épidermiques CerS = Céramide Synthase, chaîne C = chaîne carbonée de l'Acide SM = Sphingomyéline ,
Keratinocyte stem cells: Friends and foes, Journal of Cellular Physiology, vol.26, issue.2, pp.310-315, 2010. ,
DOI : 10.1038/sj.jid.5700917
Bricks and mortar of the epidermal barrier, Experimental & Molecular Medicine, vol.31, issue.1, pp.5-19, 1999. ,
DOI : 10.1038/emm.1999.2
The Stratum Corneum: The Rampart of the Mammalian Body, Vet Dermatol. 2013 Feb, vol.6, issue.8055, pp.60-72 ,
DOI : 10.1016/S0923-1811(02)00143-3
Current Understanding of Skin Biology Pertinent to Skin Penetration: Skin Biochemistry, Skin Pharmacology and Physiology, vol.26, issue.4-6, pp.4-6217, 2013. ,
DOI : 10.1159/000351949
The structure and function of the stratum corneum, International Journal of Pharmaceutics, vol.435, issue.1, pp.3-9, 2012. ,
DOI : 10.1016/j.ijpharm.2012.06.005
Drug permeation through human skin: Theory andinvitro experimental measurement, AIChE Journal, vol.21, issue.5, pp.985-96, 1975. ,
DOI : 10.1002/aic.690210522
Skin Diseases Associated with the Depletion of Stratum Corneum Lipids and Stratum Corneum Lipid Substitution Therapy, Skin Pharmacology and Physiology, vol.28, issue.1, pp.42-55, 2015. ,
DOI : 10.1159/000360009
Role of lipids in the formation and maintenance of the cutaneous permeability barrier, Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, vol.1841, issue.3, pp.280-94, 1841. ,
DOI : 10.1016/j.bbalip.2013.11.007
Role of cholesterol sulfate in epidermal structure and function: Lessons from X-linked ichthyosis, Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, vol.1841, issue.3, pp.353-61, 1841. ,
DOI : 10.1016/j.bbalip.2013.11.009
Structure and function of the epidermis related to barrier properties, Clinics in Dermatology, vol.30, issue.3, pp.257-62 ,
DOI : 10.1016/j.clindermatol.2011.08.007
Ceramides of pig epidermis: structure determination, J Lipid Res, 1983. ,
The role of sphingolipid metabolism in cutaneous permeability barrier formation, Biochim Biophys Acta, issue.3, pp.441-52, 1841. ,
Profiling and characterizing skin ceramides using reversed-phase liquid chromatography-quadrupole time-of-flight mass spectrometry, Anal Chem, vol.84, issue.1, pp.403-414, 2012. ,
Ceramide composition of the psoriatic scale, Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, vol.1182, issue.2, pp.147-51, 1993. ,
DOI : 10.1016/0925-4439(93)90135-N
New Acylceramide in Native and Reconstructed Epidermis, Journal of Investigative Dermatology, vol.120, issue.4, pp.581-589, 2003. ,
DOI : 10.1046/j.1523-1747.2003.12103.x
A new covalently bound ceramide from human stratum corneum -omega-hydroxyacylphytosphingosine, International Journal of Cosmetic Science, vol.1616, issue.3, pp.225-255, 2006. ,
DOI : 10.1007/s00403-005-0567-7
Profiling of human stratum corneum ceramides by means of normal phase LC/APCI???MS, Analytical and Bioanalytical Chemistry, vol.117, issue.4, pp.632-639, 2005. ,
DOI : 10.1016/0925-4439(93)90135-N
Separation and mass spectrometric characterization of covalently bound skin ceramides using LC/APCI-MS and Nano-ESI-MS/MS, Journal of Chromatography B, vol.852, issue.1-2, pp.562-70, 2007. ,
DOI : 10.1016/j.jchromb.2007.02.030
1-O-acylceramides are natural components of human and mouse epidermis, Journal of Lipid Research, vol.36, issue.12, pp.3312-3333, 2013. ,
DOI : 10.1016/j.febslet.2006.08.039
The important role of stratum corneum lipids for the cutaneous barrier function, Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, vol.1841, issue.3, pp.295-313, 1841. ,
DOI : 10.1016/j.bbalip.2013.11.006
Intercellular Skin Barrier Lipid Composition and Organization in Netherton Syndrome Patients, Journal of Investigative Dermatology, vol.134, issue.5, pp.1238-1283, 2014. ,
DOI : 10.1038/jid.2013.517
Synthesis and degradation pathways, functions, and pathology of ceramides and epidermal acylceramides, Progress in Lipid Research, vol.63, 2016. ,
DOI : 10.1016/j.plipres.2016.04.001
Omega-O-acylceramide, a lipid essential for mammalian survival, Journal of Dermatological Science, vol.51, issue.2, pp.77-87, 2008. ,
DOI : 10.1016/j.jdermsci.2008.01.002
Ceramide synthesis in the epidermis, Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, vol.1841, issue.3, pp.422-456, 2014. ,
DOI : 10.1016/j.bbalip.2013.08.011
The role of lipoxygenases in epidermis, Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, vol.1841, issue.3, pp.390-400, 2014. ,
DOI : 10.1016/j.bbalip.2013.08.005
Formation and functions of the corneocyte lipid envelope (CLE), Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, vol.1841, issue.3, pp.314-322, 1841. ,
DOI : 10.1016/j.bbalip.2013.09.011
Coordinate assembly of lipids and enzyme proteins into epidermal lamellar bodies. Tissue Cell, pp.489-98, 1999. ,
Lamellar bodies of rat alveolar type 2 cells have late endosomal marker proteins on their limiting membranes, Histochemistry, vol.262, issue.5, pp.329-364, 1994. ,
DOI : 10.1177/34.9.2426341
Rab11a Is Essential for Lamellar Body Biogenesis in the Human Epidermis, Journal of Investigative Dermatology, vol.136, issue.6, pp.1199-209 ,
DOI : 10.1016/j.jid.2016.02.001
Cellular functions of Rab GTPases at a glance, Journal of Cell Science, vol.128, issue.17, pp.3171-3177, 2015. ,
DOI : 10.1242/jcs.166074
Rab8a-AS160-MSS4 regulatory circuit controls lipid droplet fusion and growth. Dev Cell, pp.378-93, 2014. ,
Lamellar Bodies: The Key to Cutaneous Barrier Function, Journal of Investigative Dermatology, vol.132, issue.8, 2012. ,
DOI : 10.1038/jid.2012.177
Epidermal sphingomyelins are precursors for selected stratum corneum ceramides, J Lipid Res, vol.41, issue.12, pp.2071-82, 2000. ,
Mechanisms of abnormal lamellar body secretion and the dysfunctional skin barrier in patients with atopic dermatitis, Journal of Allergy and Clinical Immunology, vol.134, issue.4, pp.781-791, 2014. ,
DOI : 10.1016/j.jaci.2014.05.048
Epidermal barrier disorders and corneodesmosome defects, Cell and Tissue Research, vol.27, issue.Suppl 2, 2015. ,
DOI : 10.1016/j.biomaterials.2006.08.008
URL : https://link.springer.com/content/pdf/10.1007%2Fs00441-014-2019-1.pdf
A novel function for transglutaminase 1: Attachment of long-chain ??-hydroxyceramides to involucrin by ester bond formation, Proceedings of the National Academy of Sciences, vol.12, issue.6, pp.8402-8409, 1999. ,
DOI : 10.1073/pnas.95.3.1044
Basis for the permeability barrier abnormality in lamellar ichthyosis, Experimental Dermatology, vol.115, issue.3, pp.248-56, 2002. ,
DOI : 10.1046/j.0022-202x.2001.01471.x
Inherited ichthyosis: Non-syndromic forms, The Journal of Dermatology, vol.95, issue.3, pp.242-51 ,
DOI : 10.2340/00015555-1955
ABCA12 Maintains the Epidermal Lipid Permeability Barrier by Facilitating Formation of Ceramide Linoleic Esters, Journal of Biological Chemistry, vol.91, issue.52, 2008. ,
DOI : 10.1194/jlr.R800002-JLR200
ABCA12 dysfunction causes a disorder in glucosylceramide accumulation during keratinocyte differentiation, Journal of Dermatological Science, vol.60, issue.2, pp.128-137, 2010. ,
DOI : 10.1016/j.jdermsci.2010.08.012
The Expression of Epidermal Lipoxygenases and Transglutaminase-1 Is Perturbed by NIPAL4 Mutations: Indications of a Common Metabolic Pathway Essential for Skin Barrier Homeostasis, Journal of Investigative Dermatology, vol.132, issue.10, pp.2368-75, 2012. ,
DOI : 10.1038/jid.2012.160
Autosomal dominant lamellar ichthyosis exhibits an abnormal scale lipid pattern, Clinical Genetics, vol.121, issue.2, pp.152-158, 1989. ,
DOI : 10.1111/j.1399-0004.1986.tb00580.x
Quantification of stratum corneum ceramides and lipid envelope ceramides in the hereditary ichthyoses, British Journal of Dermatology, vol.13, issue.1, pp.23-30, 1994. ,
DOI : 10.1111/1523-1747.ep12514294
Reduced Skin Barrier Function Parallels Abnormal Stratum Corneum Lipid Organization in Patients with Lamellar Ichthyosis, Journal of Investigative Dermatology, vol.105, issue.4, pp.619-643, 1995. ,
DOI : 10.1111/1523-1747.ep12323752
12R-lipoxygenase deficiency disrupts epidermal barrier function, The Journal of Cell Biology, vol.1686, issue.1, pp.173-82, 2007. ,
DOI : 10.1016/j.abb.2006.09.002
Aloxe3 Knockout Mice Reveal a Function of Epidermal Lipoxygenase-3 as Hepoxilin Synthase and Its Pivotal Role in Barrier Formation, Journal of Investigative Dermatology, vol.133, issue.1, pp.172-80, 2013. ,
DOI : 10.1038/jid.2012.250
Inherited ichthyosis: Syndromic forms, The Journal of Dermatology, vol.146, issue.3, pp.252-63 ,
DOI : 10.1046/j.1365-2133.2002.04893.x
Altered Lamellar Body Secretion and Stratum Corneum Membrane Structure in Netherton Syndrome, Archives of Dermatology, vol.135, issue.7, pp.823-855, 1999. ,
DOI : 10.1001/archderm.135.7.823
Altered lipid profiles in the stratum corneum of Sj??gren-Larsson syndrome, Journal of Dermatological Science, vol.63, issue.1, pp.64-70, 2011. ,
DOI : 10.1016/j.jdermsci.2011.03.009
Altered epidermal lipid processing and calcium distribution in the KID syndrome mouse model Cx26S17F, FEBS Letters, vol.21, issue.15, pp.1904-1914, 2015. ,
DOI : 10.1111/j.1600-0625.2012.01521.x
A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy, Am J Hum Genet. Feb, vol.60, issue.2, pp.320-329, 1997. ,
Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: A tight junction disease, Gastroenterology, vol.127, issue.5, pp.1386-90, 2004. ,
DOI : 10.1053/j.gastro.2004.07.022
Confirmation of the origin of NISCH syndrome. Hum Mutat, pp.408-418, 2006. ,
Homozygosity Mapping of a Locus for a Novel Syndromic Ichthyosis to Chromosome 3q27???q28, Journal of Investigative Dermatology, vol.119, issue.1, pp.70-76, 2002. ,
DOI : 10.1046/j.1523-1747.2002.01809.x
Skin ultrastructural findings in type 2 Gaucher disease: Diagnostic implications, Skin ultrastructural findings in type 2 Gaucher disease: diagnostic implications, pp.631-637, 2011. ,
DOI : 10.1016/j.ymgme.2011.09.008
Mutation in a Case of Spinocerebellar Ataxia With Erythrokeratodermia, JAMA Neurology, vol.72, issue.8, pp.942-945, 2015. ,
DOI : 10.1001/jamaneurol.2015.0888
Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French- Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia ,
A novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity, BMC Medical Genetics, vol.45, issue.1, p.25, 2014. ,
DOI : 10.1167/iovs.04-0078
The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy, Nature Genetics, vol.312, issue.1, pp.28-30, 2007. ,
DOI : 10.1126/science.1123965
URL : https://hal.archives-ouvertes.fr/inserm-00409618
Truncation of CGI-58 Protein Causes Malformation of Lamellar Granules Resulting in Ichthyosis in Dorfman-Chanarin Syndrome, Journal of Investigative Dermatology, vol.121, issue.5, pp.1029-1063, 2003. ,
DOI : 10.1046/j.1523-1747.2003.12520.x
Barrier Dysfunction and Pathogenesis of Neutral Lipid Storage Disease with Ichthyosis (Chanarin???Dorfman Syndrome), Journal of Investigative Dermatology, vol.126, issue.9, pp.2032-2040, 2006. ,
DOI : 10.1038/sj.jid.5700332
Neutral Lipid Storage Disease With Ichthyosis, Archives of Dermatology, vol.121, issue.8, pp.1000-1008, 1985. ,
DOI : 10.1001/archderm.1985.01660080054014
Neutral Lipid Storage Leads to Acylceramide Deficiency, Likely Contributing to the Pathogenesis of Dorfman???Chanarin Syndrome, Journal of Investigative Dermatology, vol.130, issue.10, pp.2497-2506, 2010. ,
DOI : 10.1038/jid.2010.145
Imaging Mass Spectrometry Visualizes Ceramides and the Pathogenesis of Dorfman-Chanarin Syndrome Due to Ceramide Metabolic Abnormality in the Skin, PLoS ONE, vol.126, issue.11, p.49519, 2012. ,
DOI : 10.1371/journal.pone.0049519.s004
Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter, BMC Medical Genetics, vol.53, issue.1, p.32, 2014. ,
DOI : 10.4103/0377-4929.72098
Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome, The American Journal of Human Genetics, vol.69, issue.5, pp.1002-1014, 2001. ,
DOI : 10.1086/324121
Clinical and genetic characterization of Chanarin-Dorfman Syndrome patients: first report of large deletions in the ABHD5 gene, Orphanet Journal of Rare Diseases, vol.5, issue.1, 2010. ,
DOI : 10.1186/1750-1172-5-33
Liver cirrhosis in an infant with Chanarin-Dorfman syndrome caused by a novel splice-site mutation in ABHD5, Acta Paediatrica, vol.312, issue.10, pp.1592-1594, 2010. ,
DOI : 10.1016/j.bbalip.2008.10.012
Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABHD5 mutation, J Hepatol, 2008. ,
Cerebral lipid accumulation in Chanarin???Dorfman Syndrome, Molecular Genetics and Metabolism, vol.114, issue.1, 2015. ,
DOI : 10.1016/j.ymgme.2014.10.016
Clinical and genetic characterization of Chanarin???Dorfman syndrome, Biochemical and Biophysical Research Communications, vol.369, issue.4, pp.1125-1133, 2008. ,
DOI : 10.1016/j.bbrc.2008.03.010
Epidermal triglyceride levels are correlated with severity of ichthyosis in Dorfman???Chanarin syndrome, Journal of Dermatological Science, vol.57, issue.2, pp.2010-102 ,
DOI : 10.1016/j.jdermsci.2009.10.016
Two New Mutations of the ABHD5 Gene in a New Adult Case of Chanarin Dorfman Syndrome: An Uncommon Lipid Storage Disease, Archives of Dermatology, vol.141, issue.6, pp.798-800, 2005. ,
DOI : 10.1001/archderm.141.6.798
Chanarin Dorfman syndrome: a case report with novel nonsense mutation, Gene, vol.575, issue.2, pp.359-62, 2016. ,
DOI : 10.1016/j.gene.2015.09.004
A Novel S115G Mutation of CGI-58 in a Turkish Patient with Dorfman???Chanarin Syndrome, Journal of Investigative Dermatology, vol.127, issue.9, pp.2273-2279, 2007. ,
DOI : 10.1038/sj.jid.5700860
Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome, Cell Metabolism, vol.3, issue.5, pp.309-328, 2006. ,
DOI : 10.1016/j.cmet.2006.03.005
Chanarin-Dorfman syndrome: a novel mutation in a Turkish girl. The Turkish Journal of Pediatrics, pp.300-303, 2015. ,
8 Gene, Pediatric Dermatology, vol.271, issue.5, pp.612-616, 2014. ,
DOI : 10.1074/jbc.271.28.16644
Opposed-phase MR imaging of lipid storage myopathy in a case of Chanarin???Dorfman disease, Skeletal Radiology, vol.46, issue.11, 2008. ,
DOI : 10.2214/ajr.169.5.9353477
An exceptional mutational event leading to Chanarin-Dorfman syndrome in a large consanguineous family, British Journal of Dermatology, vol.8, issue.6, pp.1390-1392, 2011. ,
DOI : 10.1038/sj.ejhg.5200523
Living Donor Liver Transplantation for Dorfman-Chanarin Syndrome With 1 Year Follow-up: Case Report, Transplantation Proceedings, vol.42, issue.9, pp.3858-61, 2010. ,
DOI : 10.1016/j.transproceed.2010.07.105
Steatohepatitis and liver cirrhosis in Chanarin-Dorfman syndrome with a new ABDH5 mutation, Clinics and Research in Hepatology and Gastroenterology, vol.36, issue.2, pp.34-37 ,
DOI : 10.1016/j.clinre.2011.12.007
Chanarin-Dorfman syndrome in three siblings in a non-consanguineous family, Journal of the European Academy of Dermatology and Venereology, vol.30, issue.1, pp.157-166, 2016. ,
DOI : 10.1111/jdv.12651
Chanarin-Dorfman Syndrome with Multi-System Involvement in Two Siblings, Turkish Journal of Hematology, vol.30, issue.1, pp.72-77, 2013. ,
DOI : 10.4274/tjh.93798
Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation, European Journal of Medical Genetics, vol.58, issue.4, pp.238-280 ,
DOI : 10.1016/j.ejmg.2015.01.011
Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndrome, British Journal of Dermatology, vol.125, issue.4, pp.838-841, 2005. ,
DOI : 10.1001/archderm.125.2.241
Jordan???s anomaly in a case of Chanarin-Dorfman syndrome, British Journal of Haematology, vol.155, issue.4, 2011. ,
DOI : 10.1111/j.1365-2141.2011.08780.x
Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome, Journal of Dermatological Science, vol.81, issue.2, pp.134-140, 2016. ,
DOI : 10.1016/j.jdermsci.2015.10.015
Steatohepatitis and unsuspected micronodular cirrhosis in Dorfman-Chanarin syndrome with documented ABHD5 mutation, The Journal of Pediatrics, vol.144, issue.5, pp.662-667, 2004. ,
DOI : 10.1016/j.jpeds.2004.01.036
Nonsensemediated mRNA decay is involved in the degradation of CGI-58 transcript in patients with Dorfman-Chanarin syndrome and 773-1G>A mutation, J Invest Dermatol, 2009. ,
Dorfman-Chanarin syndrome without mental retardation caused by a homozygous ABHD5 splice site mutation that skips exon 6, Journal of Dermatological Science, vol.75, issue.3, 2014. ,
DOI : 10.1016/j.jdermsci.2014.05.009
Chanarin-Dorfman syndrome: Clinical report and novel mutation in ABHD5 gene, Journal of Postgraduate Medicine, vol.60, issue.3, pp.332-336, 2014. ,
DOI : 10.4103/0022-3859.138826
From Blood Smear to Lipid Disorder, Journal of Pediatric Hematology/Oncology, vol.35, issue.8, 2012. ,
DOI : 10.1097/MPH.0b013e318271c915
Beneficial effect of acitretin in Chanarin-Dorfman syndrome, Clinical and Experimental Dermatology, vol.29, issue.1, 2012. ,
DOI : 10.1128/MCB.01742-08
Chanarin???Dorfman syndrome caused by a novel splice site mutation in ABHD5, British Journal of Dermatology, vol.8, issue.6, pp.1378-1380, 2008. ,
DOI : 10.1038/ng1951
Novel nonsense mutation of ABHD5 in Dorfman???Chanarin syndrome with unusual findings: A challenge for genotype???phenotype correlation, European Journal of Medical Genetics, vol.55, issue.3, pp.173-180 ,
DOI : 10.1016/j.ejmg.2012.01.013
Identification of Novel Human Genes Evolutionarily Conserved in Caenorhabditis elegans by Comparative Proteomics, Genome Research, vol.10, issue.5, pp.703-716, 2000. ,
DOI : 10.1101/gr.10.5.703
PAT proteins, an ancient family of lipid droplet proteins that regulate cellular lipid stores, Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, vol.1791, issue.6, pp.419-459, 2009. ,
DOI : 10.1016/j.bbalip.2009.04.002
Perilipin A Mediates the Reversible Binding of CGI-58 to Lipid Droplets in 3T3-L1 Adipocytes, Journal of Biological Chemistry, vol.279, issue.40, pp.42062-71, 2004. ,
DOI : 10.1074/jbc.M407462200
Identification of a novel splicing isoform of murine CGI-58, FEBS Letters, vol.122, issue.5, pp.903-913, 2010. ,
DOI : 10.1242/jcs.045849
Alternative splicing and developmental and hormonal regulation of porcine comparative gene identification-58 (CGI-58) mRNA, J Anim Sci, 2012. ,
Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase ,
CGI-58, the Causative Gene for Chanarin-Dorfman Syndrome, Mediates Acylation of Lysophosphatidic Acid, Journal of Biological Chemistry, vol.180, issue.36, 2008. ,
DOI : 10.1074/jbc.M706752200
CGI-58/ABHD5 is phosphorylated on Ser239 by protein kinase A: control of subcellular localization, Journal of Lipid Research, vol.266, issue.1, pp.109-130 ,
DOI : 10.1016/j.cmet.2010.02.003
The Minimal Domain of Adipose Triglyceride Lipase (ATGL) Ranges until Leucine 254 and Can Be Activated and Inhibited by CGI-58 and G0S2, Respectively, PLoS ONE, vol.6, issue.10, 2011. ,
DOI : 10.1371/journal.pone.0026349.s001
Growth Retardation, Impaired Triacylglycerol Catabolism, Hepatic Steatosis, and Lethal Skin Barrier Defect in Mice Lacking Comparative Gene Identification-58 (CGI-58), Journal of Biological Chemistry, vol.1791, issue.10, pp.7300-7311, 2010. ,
DOI : 10.1074/jbc.M311000200
Skeletal muscle PLIN proteins, ATGL and CGI-58, interactions at rest and following stimulated contraction, American Journal of Physiology-Regulatory, Integrative and Comparative Physiology, vol.266, issue.8, pp.644-650, 2013. ,
DOI : 10.1194/jlr.R800031-JLR200
Human Frame Shift Mutations Affecting the Carboxyl Terminus of Perilipin Increase Lipolysis by Failing to Sequester the Adipose Triglyceride Lipase (ATGL) Coactivator AB-hydrolase-containing 5 (ABHD5), Journal of Biological Chemistry, vol.25, issue.40, pp.34998-5006, 2011. ,
DOI : 10.1194/jlr.M000976
CGI-58/ABHD5 is a coenzyme A-dependent lysophosphatidic acid acyltransferase, Journal of Lipid Research, vol.180, issue.4, pp.709-728, 2009. ,
DOI : 10.1074/jbc.M109.008631
Comparative gene identification 58/??/?? hydrolase domain 5 lacks lysophosphatidic acid acyltransferase activity, Journal of Lipid Research, vol.95, issue.8, pp.1750-61, 2014. ,
DOI : 10.1074/jbc.M207712200
Comparative Gene Identification-58 (CGI-58) Promotes Autophagy as a Putative Lysophosphatidylglycerol Acyltransferase, Journal of Biological Chemistry, vol.1801, issue.47, pp.33044-53, 2014. ,
DOI : 10.1083/jcb.200412022
URL : http://www.jbc.org/content/289/47/33044.full.pdf
CGI-58 facilitates the mobilization of cytoplasmic triglyceride for lipoprotein secretion in hepatoma cells, Journal of Lipid Research, vol.31, issue.10, pp.2295-305, 2007. ,
DOI : 10.1074/jbc.M908971199
ABHD5/CGI-58 facilitates the assembly and secretion of apolipoprotein B lipoproteins by McA RH7777 rat hepatoma cells, Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, vol.1791, issue.3, pp.198-205, 1791. ,
DOI : 10.1016/j.bbalip.2008.12.018
Fat mobilization in adipose tissue is promoted by adipose triglyceride lipase. Science, pp.1383-1389, 2004. ,
Desnutrin, an Adipocyte Gene Encoding a Novel Patatin Domain-containing Protein, Is Induced by Fasting and Glucocorticoids, Journal of Biological Chemistry, vol.13, issue.45, pp.47066-75, 2004. ,
DOI : 10.1083/jcb.200210169
Family Members Possessing Triacylglycerol Lipase and Acylglycerol Transacylase Activities, Journal of Biological Chemistry, vol.83, issue.47, pp.48968-75, 2004. ,
DOI : 10.1093/nar/16.22.10881
URL : http://www.jbc.org/content/279/47/48968.full.pdf
Crucial Role of CGI-58/??/?? Hydrolase Domain-Containing Protein 5 in Lipid Metabolism, Biological & Pharmaceutical Bulletin, vol.33, issue.3, pp.342-347, 2010. ,
DOI : 10.1248/bpb.33.342
Fate of fat: The role of adipose triglyceride lipase in lipolysis, Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, vol.1791, issue.6, pp.494-500, 2009. ,
DOI : 10.1016/j.bbalip.2008.10.005
Adipocyte differentiation-related protein reduces the lipid droplet association of adipose triglyceride lipase and slows triacylglycerol turnover, Journal of Lipid Research, vol.24, issue.12, pp.2751-61, 2007. ,
DOI : 10.1242/jcs.02401
Breaking BAT: can browning create a better white?, Journal of Endocrinology, 2016. ,
DOI : 10.1530/JOE-15-0408
Adipocyte lipolysis and insulin resistance, Biochimie, vol.125, 2015. ,
DOI : 10.1016/j.biochi.2015.10.024
-acyltransferases, Journal of Biological Chemistry, vol.50, issue.49, pp.41446-57, 2012. ,
DOI : 10.1016/j.cmet.2012.03.004
The G0/G1 Switch Gene 2 Regulates Adipose Lipolysis through Association with Adipose Triglyceride Lipase. Cell Metabolism, pp.194-205, 2010. ,
The N-terminal Region of Comparative Gene Identification-58 (CGI-58) Is Important for Lipid Droplet Binding and Activation of Adipose Triglyceride Lipase, Journal of Biological Chemistry, vol.1469, issue.16, pp.12289-98, 2010. ,
DOI : 10.1074/jbc.M311945200
G1 Switch Gene 2 controls adipose triglyceride lipase activity and lipid metabolism in skeletal muscle. Mol Metab, pp.527-564, 2016. ,
G(1) Switch Gene-2 Protein (G0S2) Expression in Male Sprague-Dawley Rat Skeletal Muscle Compared to Relative Content of Adipose Triglyceride Lipase (ATGL) and Comparitive Gene Identification-58 (CGI-58) PLoS One, Characterization of Lipolytic Inhibitor G, vol.10, issue.03, 2015. ,
Differential control of ATGL-mediated lipid droplet degradation by CGI-58 and G0S2. Cell Cycle, pp.2719-2744, 2010. ,
Perilipins: Lipid droplet coat proteins adapted for tissue-specific energy storage and utilization, and lipid cytoprotection, Biochimie, vol.96, pp.96-101, 2014. ,
DOI : 10.1016/j.biochi.2013.08.026
Lipid droplets at a glance, Journal of Cell Science, vol.122, issue.6, pp.749-52, 2009. ,
DOI : 10.1242/jcs.037630
URL : http://jcs.biologists.org/content/joces/122/6/749.full.pdf
Lipid Droplets and Cellular Lipid Metabolism, Annual Review of Biochemistry, vol.81, issue.1, pp.687-714, 2012. ,
DOI : 10.1146/annurev-biochem-061009-102430
Perilipin Controls Lipolysis by Regulating the Interactions of AB-hydrolase Containing 5 (Abhd5) and Adipose Triglyceride Lipase (Atgl), Journal of Biological Chemistry, vol.16, issue.50, pp.34538-34582, 2009. ,
DOI : 10.1074/jbc.M608048200
Lipid droplet metabolism. Curr Opin Clin Nutr Metab Care, pp.632-639, 2013. ,
CGI-58 Interacts with Perilipin and Is Localized to Lipid Droplets -Possible involvement of CGI-58 mislocalization in Chanarin-Dorfman syndrome, J Biol Chem. Jul, vol.16, pp.30490-30497, 2004. ,
Making, Baking, and Breaking: the Synthesis, Storage, and Hydrolysis of Neutral Lipids, Annual Review of Nutrition, vol.33, issue.1, pp.413-51, 2013. ,
DOI : 10.1146/annurev-nutr-071812-161254
PAT proteins, an ancient family of lipid droplet proteins that regulate cellular lipid stores, Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, vol.1791, issue.6, pp.419-459, 1791. ,
DOI : 10.1016/j.bbalip.2009.04.002
Analysis of interaction partners for perilipin and ADRP on lipid droplets???, Molecular and Cellular Biochemistry, vol.76, issue.1-2, pp.167-73, 2006. ,
DOI : 10.1093/oxfordjournals.jbchem.a003301
TIP47: A Cargo Selection Device for Mannose 6-Phosphate Receptor Trafficking, Cell, vol.93, issue.3, pp.433-476, 1998. ,
DOI : 10.1016/S0092-8674(00)81171-X
Transient Scrotal Hyperthermia Induces Lipid Droplet Accumulation and Reveals a Different ADFP Expression Pattern between the Testes and Liver in Mice, PLoS ONE, vol.7, issue.10, 2012. ,
DOI : 10.1371/journal.pone.0045694.s004
TIP47 Associates with Lipid Droplets, Journal of Biological Chemistry, vol.95, issue.7, pp.5101-5109, 2001. ,
DOI : 10.1074/jbc.M007322200
Diacylglycerol Enrichment of Endoplasmic Reticulum or Lipid Droplets Recruits Perilipin 3/TIP47 during Lipid Storage and Mobilization, Journal of Biological Chemistry, vol.36, issue.45, pp.30941-30949, 2009. ,
DOI : 10.1093/jb/mvj104
TIP47 is associated with the Hepatitis C virus and its interaction with Rab9 is required for release of viral particles, European Journal of Cell Biology, vol.92, issue.12, pp.374-82, 2013. ,
DOI : 10.1016/j.ejcb.2013.12.003
ABHD5/CGI-58, the Chanarin-Dorfman Syndrome Protein, Mobilises Lipid Stores for Hepatitis C Virus Production, PLOS Pathogens, vol.25, issue.4, p.1005568 ,
DOI : 10.1371/journal.ppat.1005568.s015
Functional Interactions between Mldp (LSDP5) and Abhd5 in the Control of Intracellular Lipid Accumulation, Journal of Biological Chemistry, vol.129, issue.5, pp.3049-57, 2008. ,
DOI : 10.1074/jbc.M007322200
Interactions of Perilipin-5 (Plin5) with Adipose Triglyceride Lipase, Journal of Biological Chemistry, vol.12, issue.7, pp.5126-5161, 2011. ,
DOI : 10.2337/db07-1383
Unique Regulation of Adipose Triglyceride Lipase (ATGL) by Perilipin 5, a Lipid Droplet-associated Protein, J Biol Chem, 2011. ,
FAT SIGNALS--lipases and lipolysis in lipid metabolism and signaling. Cell Metab, pp.279-91, 2012. ,
Metabolic functions of FABPs???mechanisms and therapeutic implications, Nature Reviews Endocrinology, vol.4, issue.10, pp.592-605 ,
DOI : 10.1016/j.cmet.2013.04.012
The human fatty acid-binding protein family: Evolutionary divergences and functions, Human Genomics, vol.5, issue.3, pp.170-91, 2011. ,
DOI : 10.1093/bioinformatics/btp033
Fatty Acid-binding Proteins Interact with Comparative Gene Identification-58 Linking Lipolysis with Lipid Ligand Shuttling, Journal of Biological Chemistry, vol.40, issue.30, pp.18438-53, 2015. ,
DOI : 10.2337/db13-0436
KSRP and MicroRNA 145 Are Negative Regulators of Lipolysis in White Adipose Tissue, Molecular and Cellular Biology, vol.34, issue.12, pp.2339-2388 ,
DOI : 10.1128/MCB.00042-14
Micro RNA-124a Regulates Lipolysis via Adipose Triglyceride Lipase and Comparative Gene Identification 58, International Journal of Molecular Sciences, vol.2, issue.3, pp.8555-68, 2015. ,
DOI : 10.2174/157339911796397866
URL : http://www.mdpi.com/1422-0067/16/4/8555/pdf
At4g24160, a soluble acylcoenzyme A-dependent lysophosphatidic acid acyltransferase, Plant Physiol, 2009. ,
CGI-58 homologue produces Chanarin???Dorfman-like lipid droplet accumulation in plants, Proceedings of the National Academy of Sciences, vol.37, issue.2, pp.17833-17841, 2010. ,
DOI : 10.1152/ajpendo.00099.2009
ALDP protein homologue COMATOSE is instrumental in peroxisomal acetate metabolism, Biochemical Journal, vol.406, issue.3, pp.399-406, 2007. ,
DOI : 10.1042/BJ20070258
URL : https://hal.archives-ouvertes.fr/hal-00478762
CGI-58, a key regulator of lipid homeostasis and signaling in plants, also regulates polyamine metabolism, Plant Signaling & Behavior, vol.9, issue.2, 2014. ,
DOI : 10.1104/pp.84.1.148
Macrophage ABHD5 promotes colorectal cancer growth by suppressing spermidine production by SRM, Nature Communications, vol.8, 2016. ,
DOI : 10.1194/jlr.M400253-JLR200
On the sequence-directed nature of human gene mutation: The role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease, Human Mutation, vol.75, issue.Database issue, pp.1075-99, 2011. ,
DOI : 10.1111/j.1399-0004.2009.01187.x
Non-homologous recombination between Alu and LINE-1 repeats caused a 430-kb deletion in the dystrophin gene: a novel source of genomic instability, Journal of Human Genetics, vol.45, issue.6, pp.331-337, 2000. ,
DOI : 10.1007/s100380070003
Maple syrup urine disease in the Austronesian aboriginal tribe Paiwan of Taiwan: a novel DBT (E2) gene 4.7???kb founder deletion caused by a nonhomologous recombination between LINE-1 and Alu and the carrier-frequency determination, European Journal of Human Genetics, vol.63, issue.Suppl, pp.931-937, 2003. ,
DOI : 10.1086/302131
Barrier Abnormality Due to Ceramide Deficiency Leads to Psoriasiform Inflammation in a Mouse Model, Journal of Investigative Dermatology, vol.133, issue.11, pp.2555-65, 2013. ,
DOI : 10.1038/jid.2013.199
Type I Keratinocyte Transglutaminase: Expression in Human Skin and Psoriasis, Journal of Investigative Dermatology, vol.99, issue.1, 1992. ,
DOI : 10.1111/1523-1747.ep12611394
Alterations of Glucosylceramide-??-Glucosidase Levels in the Skin of Patients with Psoriasis Vulgaris, Journal of Investigative Dermatology, vol.123, issue.6, pp.1030-1036, 2004. ,
DOI : 10.1111/j.0022-202X.2004.23469.x
Decrease of Ceramides with Very Long???Chain Fatty Acids and Downregulation of Elongases in a Murine Atopic Dermatitis Model, Journal of Investigative Dermatology, vol.132, issue.2, pp.476-485, 2012. ,
DOI : 10.1038/jid.2011.333
Lamellar Bodies of Human Epidermis, Molecular & Cellular Proteomics, vol.18, issue.11, pp.2151-75, 2008. ,
DOI : 10.1111/j.0022-202X.2004.23583.x
Role of Rab9 GTPase in facilitating receptor recruitment by TIP47. Science, pp.1373-1379, 2001. ,
Rab9 GTPase Regulates Late Endosome Size and Requires Effector Interaction for Its Stability, Molecular Biology of the Cell, vol.15, issue.12, pp.5420-5450, 2004. ,
DOI : 10.1038/35052055
URL : http://www.molbiolcell.org/content/15/12/5420.full.pdf
TIP47 is required for the production of infectious HIV-1 particles from primary macrophages, Traffic. 2010, vol.11, issue.4, pp.455-67 ,
URL : https://hal.archives-ouvertes.fr/inserm-00663611
CGI-58 Is an ??/??-Hydrolase within Lipid Transporting Lamellar Granules of Differentiated Keratinocytes, The American Journal of Pathology, vol.173, issue.5, pp.1349-60, 2008. ,
DOI : 10.2353/ajpath.2008.080005
Spatiotemporal Resolution of Rab9 and CI-MPR Dynamics in the Endocytic Pathway, Traffic, vol.8, issue.Pt 14, 2016. ,
DOI : 10.1371/journal.pone.0073538
Rab proteins mediate Golgi transport of caveola-internalized glycosphingolipids and correct lipid trafficking in Niemann-Pick C cells, Journal of Clinical Investigation, vol.109, issue.12, pp.1541-50, 2002. ,
DOI : 10.1172/JCI0215420
Protein transduction of Rab9 in Niemann-Pick C cells reduces cholesterol storage, The FASEB Journal, vol.19, issue.11, pp.1558-60, 2005. ,
DOI : 10.1096/fj.04-2714fje
Mice, Investigative Opthalmology & Visual Science, vol.48, issue.9, pp.3905-3918, 2007. ,
DOI : 10.1167/iovs.06-1464
URL : https://hal.archives-ouvertes.fr/hal-00951301
Rab38 targets to lamellar bodies and normalizes their sizes in lung alveolar type II epithelial cells, American Journal of Physiology-Lung Cellular and Molecular Physiology, vol.275, issue.4, pp.461-477, 2011. ,
DOI : 10.1016/j.bbamem.2008.03.021
Assembly of the Biogenesis of Lysosome-related Organelles Complex-3 (BLOC-3) and Its Interaction with Rab9, Journal of Biological Chemistry, vol.127, issue.10, pp.7794-804, 2010. ,
DOI : 10.1083/jcb.152.4.809
395 Disease severity and cutaneous inflammation in ichthyosis are linked to Th17 pathway activation, Journal of Investigative Dermatology, vol.136, issue.5, p.70, 2016. ,
DOI : 10.1016/j.jid.2016.02.429
Chinese Hamster Ovary K2 Cell Lipid Droplets Appear to Be Metabolic Organelles Involved in Membrane Traffic, Journal of Biological Chemistry, vol.39, issue.5, pp.3787-92, 2004. ,
DOI : 10.1083/jcb.116.1.135
Proteomic Analysis of Proteins Associated with Lipid Droplets of Basal and Lipolytically Stimulated 3T3-L1 Adipocytes, Journal of Biological Chemistry, vol.109, issue.45, pp.46835-46877, 2004. ,
DOI : 10.1074/jbc.M407462200