human-ABHD5

Homo sapiens (Human) 39.1 kDa Comparative gene identification 58 (CGI-58)/Alpha Beta Hydrolase Domain 5 (ABHD5)

Comment

Comparative gene identification 58 (CGI-58)\/Alpha Beta Hydrolase Domain 5 (ABHD5) functions as an acyltransferase for the synthesis of phosphatidic acid, the major intermediate in membrane and storage lipid biosynthesis. It also functions as a coactivator of adipocyte triglyceride lipase (ATGL, or PNPLA2) (Ghosh et al., 2008).The Family in ESTHER is CGI-58_ABHD5_ABHD4. Mutations in ABDH5 CGI-58 where found in patients with Chanarin-Dorfman syndrome. First mutations were described by Lefevre et al.(2001). They identified several candidate genes, one of which, designated comparative gene identification-58. Many more mutations. have been described since then (see below). The disease locus was designated NLSDI (neutral lipid storage disease with ichtyosis). Symptoms are close to NLSMD (neutral lipid storage disease with myopathy) which is due to mutations in patatin-like phospholipase domain-containing protein-2 (adipose triglyceride lipase\; ATGL (PNPLA2)\; not an alpha beta hydrolase (Fischer et al.)). But NLSMD do not show ichtyolisis and in NLSDI myopathy is milder. However ABDH5 interacts and activates ATGL (Yamaguchi et al.). ABDH5 interacts also with perilipin. Mutations affecting the carboxyl terminus of perilipin increase lipolysis by failing to sequester ABHD5. Comparative gene identification 58 (CGI-58)\/Alpha Beta Hydrolase Domain 5 (ABHD5) lacks lysophosphatidic acid acyltransferase activity (McMahon et al.) ABHD5 lacks a serine residue in a conserved sequence (GXSXG) that normally harbors the nucleophilic component of the catalytic triad

Relationship

Family : CGI-58_ABHD5_ABHD4

Block : X

Position in NCBI Life Tree : Homo sapiens

(Below N is a link to NCBI taxonomic web page and E link to ESTHER at designed phylum.)

> cellular organisms N E > Eukaryota N E > Opisthokonta N E > Metazoa N E > Eumetazoa N E > Bilateria N E > Deuterostomia N E > Chordata N E > Craniata N E > Vertebrata N E > Gnathostomata N E > Teleostomi N E > Euteleostomi N E > Sarcopterygii N E > Dipnotetrapodomorpha N E > Tetrapoda N E > Amniota N E > Mammalia N E > Theria N E > Eutheria N E > Boreoeutheria N E > Euarchontoglires N E > Primates N E > Haplorrhini N E > Simiiformes N E > Catarrhini N E > Hominoidea N E > Hominidae N E > Homininae N E > Homo N E > Homo sapiens N E

Molecular evidence

No mutation

No kinetic

No substrate

Database

Sequence

Peptide

MAAEEEEVDS ADTGERSGWL TGWLPTWCPT SISHLKEAEE KMLKCVPCTY KKEPVRISNG NKIWTLKFSH NISNKTPLVL LHGFGGGLGL WALNFGDLCT NRPVYAFDLL GFGRSSRPRF DSDAEEVENQ FVESIEEWRC ALGLDKMILL GHNLGGFLAA AYSLKYPSRV NHLILVEPWG FPERPDLADQ DRPIPVWIRA LGAALTPFNP LAGLRIAGPF GLSLVQRLRP DFKRKYSSMF EDDTVTEYIY HCNVQTPSGE TASKNMTIPY GWAKRPMLQR IGKMHPDIPV SVIFGARSCI DGNSGTSIQS LRPHSYVKTI AILGAGHYVY ADQPEEFNQK VKEICDTVD

References (105)

Title : ABHD5-CPT1B: An Important Way of Regulating Placental Lipid Metabolism in Gestational Diabetes Mellitus - Yang_2023_Arch.Med.Res_55_102925
Author(s) : Yang Y , Peng Y , Yu B , Wang H
Ref : Arch Med Res , 55 :102925 , 2023
PubMedID: 38042031
Gene_locus related to this paper: human-ABHD5

Title : Unmasking Crucial Residues in Adipose Triglyceride Lipase (ATGL) for Co-Activation with Comparative Gene Identification-58 (CGI-58) - Kulminskaya_2023_J.Lipid.Res__100491
Author(s) : Kulminskaya N , Rodriguez Gamez CF , Hofer P , Cerk IK , Dubey N , Viertlmayr R , Sagmeister T , Pavkov-Keller T , Zechner R , Oberer M
Ref : J Lipid Res , :100491 , 2023
PubMedID: 38135254
Gene_locus related to this paper: human-ABHD5 , mouse-abhd5

Title : ATG14 plays a critical role in hepatic lipid droplet homeostasis - Huang_2023_Metabolism_148_155693
Author(s) : Huang M , Zhang Y , Park J , Chowdhury K , Xu J , Lu A , Wang L , Zhang W , Ekser B , Yu L , Dong XC
Ref : Metabolism , 148 :155693 , 2023
PubMedID: 37741434
Gene_locus related to this paper: human-ABHD5

Title : The lipase cofactor CGI58 controls placental lipolysis - Guerrero-Santoro_2023_JCI.Insight_8_e168717
Author(s) : Guerrero-Santoro J , Morizane M , Oh SY , Mishima T , Goff JP , Bildirici I , Sadovsky E , Ouyang Y , Tyurin VA , Tyurina YY , Kagan VE , Sadovsky Y
Ref : JCI Insight , 8 :e168717 , 2023
PubMedID: 37212279
Gene_locus related to this paper: human-ABHD5

Title : A FRET sensor for the real-time detection of long chain acyl-CoAs and synthetic ABHD5 ligands - Mottillo_2023_Cell.Rep.Methods_3_100394
Author(s) : Mottillo EP , Mladenovic-Lucas L , Zhang H , Zhou L , Kelly CV , Ortiz PA , Granneman JG
Ref : Cell Rep Methods , 3 :100394 , 2023
PubMedID: 36936069
Gene_locus related to this paper: human-ABHD5

Title : Aging reduces ABHD5 protein content in the adipose tissue of mice: The reversal effect of exercise - Bricola_2022_Cell.Biochem.Funct__
Author(s) : Bricola RS , Cordeiro AV , Crisol BM , Braga RR , de Melo DG , Rocha MB , Gaspar RC , Nakandakari S , Silva VRR , Anaruma CP , Katashima CK , Canciglieri RDS , Munoz VR , Pavan ICB , Pinto AP , Simabuco FM , Silva A , Moura LP , Pauli JR , Cintra DE , Ropelle ER
Ref : Cell Biochemistry & Function , : , 2022
PubMedID: 36515301
Gene_locus related to this paper: human-ABHD5 , mouse-abhd5

Title : Molecular Modeling of ABHD5 Structure and Ligand Recognition - Shahoei_2022_Front.Mol.Biosci_9_935375
Author(s) : Shahoei R , Pangeni S , Sanders MA , Zhang H , Mladenovic-Lucas L , Roush WR , Halvorsen G , Kelly CV , Granneman JG , Huang YM
Ref : Front Mol Biosci , 9 :935375 , 2022
PubMedID: 35836935
Gene_locus related to this paper: human-ABHD5 , mouse-abhd5

Title : Human CIDEC transgene improves lipid metabolism and protects against high-fat diet-induced glucose intolerance in mice - Gupta_2022_J.Biol.Chem__
Author(s) : Gupta A , Balakrishnan B , Karki S , Slayton M , Jash S , Banerjee S , Grahn THM , Jambunathan S , Disney S , Hussein H , Kong D , Lowell BB , Natarajan P , Reddy UK , Gokce N , Sharma VM , Puri V
Ref : Journal of Biological Chemistry , :102347 , 2022
PubMedID: 35963433
Gene_locus related to this paper: human-ABHD5

Title : ABHD5-A Regulator of Lipid Metabolism Essential for Diverse Cellular Functions - Schratter_2022_Metabolites_12_1015
Author(s) : Schratter M , Lass A , Radner FPW
Ref : Metabolites , 12 :1015 , 2022
PubMedID: 36355098
Gene_locus related to this paper: human-ABHD5 , mouse-abhd5

Title : Improved Stability of Human CGI-58 Induced by Phosphomimetic S237E Mutation - Llamas-Garcia_2022_ACS.Omega_7_12643
Author(s) : Llamas-Garcia ML , Paez-Perez ED , Benitez-Cardoza CG , Montero-Moran GM , Lara-Gonzalez S
Ref : ACS Omega , 7 :12643 , 2022
PubMedID: 35474805
Gene_locus related to this paper: human-ABHD5

Title : Structural and functional insights into ABHD5, a ligand-regulated lipase co-activator - Tseng_2022_Sci.Rep_12_2565
Author(s) : Tseng YY , Sanders MA , Zhang H , Zhou L , Chou CY , Granneman JG
Ref : Sci Rep , 12 :2565 , 2022
PubMedID: 35173175
Gene_locus related to this paper: human-ABHD5

Title : Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome - Tavian_2021_Eur.J.Transl.Myol__
Author(s) : Tavian D , Durdu M , Angelini C , Torre E , Missaglia S
Ref : Eur J Transl Myol , : , 2021
PubMedID: 33985321
Gene_locus related to this paper: human-ABHD5

Title : Chanarin-Dorfman Syndrome: A comprehensive review - Cakmak_2021_Liver.Int_41_905
Author(s) : Cakmak E , Bagci G
Ref : Liver Int , 41 :905 , 2021
PubMedID: 33455044
Gene_locus related to this paper: human-ABHD5

Title : Two cases of Chanarin-Dorfman syndrome with novel and recurrent mutations in the ABHD5 gene -
Author(s) : Jiang X , Zhong W , Yu B , Lin Z , Wang H
Ref : Int J Dermatol , : , 2021
PubMedID: 33569812
Gene_locus related to this paper: human-ABHD5

Title : Review article: the emerging role of genetics in precision medicine for patients with non-alcoholic steatohepatitis - Carlsson_2020_Aliment.Pharmacol.Ther_51_1305
Author(s) : Carlsson B , Linden D , Brolen G , Liljeblad M , Bjursell M , Romeo S , Loomba R
Ref : Aliment Pharmacol Ther , 51 :1305 , 2020
PubMedID: 32383295
Gene_locus related to this paper: human-ABHD5

Title : Western diet induces severe nonalcoholic steatohepatitis, ductular reaction, and hepatic fibrosis in liver CGI-58 knockout mice - Yang_2020_Sci.Rep_10_4701
Author(s) : Yang P , Wang Y , Tang W , Sun W , Ma Y , Lin S , Jing J , Jiang L , Shi H , Song Z , Yu L
Ref : Sci Rep , 10 :4701 , 2020
PubMedID: 32170127
Gene_locus related to this paper: human-ABHD5 , mouse-abhd5

Title : ABHD5 suppresses cancer cell anabolism through lipolysis-dependent activation of the AMPK\/mTORC1 pathway - Chen_2020_J.Biol.Chem_296_100104
Author(s) : Chen G , Zhou G , Lotvola A , Granneman JG , Wang J
Ref : Journal of Biological Chemistry , 296 :100104 , 2020
PubMedID: 33219129
Gene_locus related to this paper: human-ABHD5

Title : The ATGL lipase cooperates with ABHD5 to mobilize lipids for hepatitis C virus assembly - Vieyres_2020_PLoS.Pathog_16_e1008554
Author(s) : Vieyres G , Reichert I , Carpentier A , Vondran FWR , Pietschmann T
Ref : PLoS Pathog , 16 :e1008554 , 2020
PubMedID: 32542055
Gene_locus related to this paper: human-ABHD5

Title : CGI-58: Versatile Regulator of Intracellular Lipid Droplet Homeostasis - Yu_2020_Adv.Exp.Med.Biol_1276_197
Author(s) : Yu L , Li Y , Grise A , Wang H
Ref : Advances in Experimental Medicine & Biology , 1276 :197 , 2020
PubMedID: 32705602
Gene_locus related to this paper: human-ABHD5

Title : Two cases of non-alcoholic fatty liver disease caused by biallelic ABHD5 mutations -
Author(s) : Adant I , Declercq M , Bird M , Bauters M , Boeckx N , Devriendt K , Cassiman D , Witters P
Ref : Journal of Hepatology , 72 :1030 , 2020
PubMedID: 32107051
Gene_locus related to this paper: human-ABHD5

Title : Transcription Factors ZEB1 and CREB Promote the Transcription of Bovine ABHD5 Gene - Wang_2021_DNA.Cell.Biol_40_219
Author(s) : Wang X , Li A , Raza SHA , Liang C , Zhang S , Mei C , Yang W , Zan L
Ref : DNA & Cell Biology , 40 :219 , 2020
PubMedID: 33332227
Gene_locus related to this paper: bovin-q0vcc8 , human-ABHD5

Title : Chanarin-Dorfman syndrome: a novel homozygous mutation in the ABHD5 gene -
Author(s) : Al-Hage J , Abbas O , Nemer G , Kurban M
Ref : Clinical & Experimental Dermatologyatol , 45 :257 , 2020
PubMedID: 31486100
Gene_locus related to this paper: human-ABHD5

Title : Circular RNA cMras Suppresses the Progression of Lung Adenocarcinoma Through ABHD5\/ATGL Axis Using NF-B Signaling Pathway - Zhou_2020_Cancer.Biother.Radiopharm__
Author(s) : Zhou Q , Sun Y
Ref : Cancer Biother Radiopharm , : , 2020
PubMedID: 32822232
Gene_locus related to this paper: human-ABHD5

Title : Downregulated ABHD5 Aggravates Insulin Resistance of Trophoblast Cells During Gestational Diabetes Mellitus - Peng_2020_Reprod.Sci_27_233
Author(s) : Peng HY , Li HP , Li MQ
Ref : Reprod Sci , 27 :233 , 2020
PubMedID: 32046372
Gene_locus related to this paper: human-ABHD5

Title : Cancer-derived exosomal TRIM59 regulates macrophage NLRP3 inflammasome activation to promote lung cancer progression - Liang_2020_J.Exp.Clin.Cancer.Res_39_176
Author(s) : Liang M , Chen X , Wang L , Qin L , Wang H , Sun Z , Zhao W , Geng B
Ref : J Exp Clin Cancer Research , 39 :176 , 2020
PubMedID: 32867817
Gene_locus related to this paper: human-ABHD5

Title : ABHD5 cleaves HDAC4 to benefit the heart -
Author(s) : Travers JG , McKinsey TA
Ref : Nat Metab , 1 :1034 , 2019
PubMedID: 32694866
Gene_locus related to this paper: human-ABHD5

Title : ABHD5 blunts the sensitivity of colorectal cancer to fluorouracil via promoting autophagic uracil yield - Ou_2019_Nat.Commun_10_1078
Author(s) : Ou J , Peng Y , Yang W , Zhang Y , Hao J , Li F , Chen Y , Zhao Y , Xie X , Wu S , Zha L , Luo X , Xie G , Wang L , Sun W , Zhou Q , Li J , Liang H
Ref : Nat Commun , 10 :1078 , 2019
PubMedID: 30842415
Gene_locus related to this paper: human-ABHD5

Title : Macrophage ABHD5 Suppresses NFkappaB-Dependent Matrix Metalloproteinase Expression and Cancer Metastasis - Shang_2019_Cancer.Res_79_5513
Author(s) : Shang S , Ji X , Zhang L , Chen J , Li C , Shi R , Xiang W , Kang X , Zhang D , Yang F , Dai R , Chen P , Chen S , Chen Y , Li Y , Miao H
Ref : Cancer Research , 79 :5513 , 2019
PubMedID: 31439546
Gene_locus related to this paper: human-ABHD5

Title : Oncogenic role of ABHD5 in endometrial cancer - Zhou_2019_Cancer.Manag.Res_11_2139
Author(s) : Zhou Q , Wang F , Zhou K , Huang K , Zhu Q , Luo X , Yu J , Shi Z
Ref : Cancer Manag Res , 11 :2139 , 2019
PubMedID: 30936746
Gene_locus related to this paper: human-ABHD5

Title : A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings - Eskiocak_2019_Lipids.Health.Dis_18_232
Author(s) : Eskiocak AH , Missaglia S , Moro L , Durdu M , Tavian D
Ref : Lipids Health Dis , 18 :232 , 2019
PubMedID: 31883530
Gene_locus related to this paper: human-ABHD5

Title : Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene - Louhichi_2019_Orphanet.J.Rare.Dis_14_112
Author(s) : Louhichi N , Bahloul E , Marrakchi S , Othman HB , Triki C , Aloulou K , Trabelsi L , Mahfouth N , Ayadi-Mnif Z , Keskes L , Fakhfakh F , Turki H
Ref : Orphanet J Rare Dis , 14 :112 , 2019
PubMedID: 31118107
Gene_locus related to this paper: human-ABHD5

Title : The lipid droplet-associated protein ABHD5 protects the heart through proteolysis of HDAC4 - Jebessa_2019_Nat.Metab_1_1157
Author(s) : Jebessa ZH , Shanmukha Kumar D , Dewenter M , Lehmann LH , Xu C , Schreiter F , Siede D , Gong XM , Worst BC , Federico G , Sauer SW , Fischer T , Wechselberger L , Muller OJ , Sossalla S , Dieterich C , Most P , Grone HJ , Moro C , Oberer M , Haemmerle G , Katus HA , Tyedmers J , Backs J
Ref : Nat Metab , 1 :1157 , 2019
PubMedID: 31742248
Gene_locus related to this paper: human-ABHD5

Title : Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations - Youssefian_2019_J.Hepatol_71_366
Author(s) : Youssefian L , Vahidnezhad H , Saeidian AH , Pajouhanfar S , Sotoudeh S , Mansouri P , Amirkashani D , Zeinali S , Levine MA , Peris K , Colombo R , Uitto J
Ref : Journal of Hepatology , 71 :366 , 2019
PubMedID: 30954460
Gene_locus related to this paper: human-ABHD5

Title : Dynamic interactions of ABHD5 with PNPLA3 regulate triacylglycerol metabolism in brown adipocytes - Yang_2019_Nat.Metab_1_560
Author(s) : Yang A , Mottillo EP , Mladenovic-Lucas L , Zhou L , Granneman JG
Ref : Nat Metab , 1 :560 , 2019
PubMedID: 31497752
Gene_locus related to this paper: human-ABHD5

Title : Neutral Lipid Storage Diseases as Cellular Model to Study Lipid Droplet Function - Missaglia_2019_Cells_8_
Author(s) : Missaglia S , Coleman RA , Mordente A , Tavian D
Ref : Cells , 8 : , 2019
PubMedID: 30795549
Gene_locus related to this paper: human-ABHD5

Title : A New Case of Chanarin-Dorfman Syndrome with a Novel Deletion in ABHD5 Gene - Nakhaei_2018_Iran.Biomed.J_22_415
Author(s) : Nakhaei S , Heidary H , Rahimian A , Vafadar M , Rohani F , Bahoosh GR , Amirkashani D
Ref : Iran Biomed J , 22 :415 , 2018
PubMedID: 29475365
Gene_locus related to this paper: human-ABHD5

Title : Molecular mechanism of the ichthyosis pathology of Chanarin-Dorfman syndrome: Stimulation of PNPLA1-catalyzed omega-O-acylceramide production by ABHD5 - Ohno_2018_J.Dermatol.Sci_92_245
Author(s) : Ohno Y , Nara A , Nakamichi S , Kihara A
Ref : J Dermatol Sci , 92 :245 , 2018
PubMedID: 30527376
Gene_locus related to this paper: human-ABHD5

Title : Loss of Abhd5 Promotes Colorectal Tumor Development and Progression by Inducing Aerobic Glycolysis and Epithelial-Mesenchymal Transition -
Author(s) : Ou J , Miao H , Ma Y , Guo F , Deng J , Wei X , Zhou J , Xie G , Shi H , Xue B , Liang H , Yu L
Ref : Cell Rep , 24 :2795 , 2018
PubMedID: 30184511
Gene_locus related to this paper: human-ABHD5

Title : Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents - Durdu_2018_BMC.Med.Genet_19_88
Author(s) : Durdu M , Missaglia S , Moro L , Tavian D
Ref : BMC Med Genet , 19 :88 , 2018
PubMedID: 29843625
Gene_locus related to this paper: human-ABHD5

Title : ABHD5 stimulates PNPLA1-mediated omega-O-acylceramide biosynthesis essential for a functional skin permeability barrier - Kien_2018_J.Lipid.Res_59_2360
Author(s) : Kien B , Grond S , Haemmerle G , Lass A , Eichmann TO , Radner FPW
Ref : J Lipid Res , 59 :2360 , 2018
PubMedID: 30361410
Gene_locus related to this paper: human-ABHD5

Title : An unusual presentation of LCAT deficiency as nephrotic syndrome with normal serum HDL-C level - Balwani_2017_J.Nephropharmacol_6_23
Author(s) : Balwani MR , Ghodela VA , Kute VB , Shah PR , Patel HV , Gera DN , Vanikar A , Trivedi HL
Ref : J Nephropharmacol , 6 :23 , 2017
PubMedID: 28508023
Gene_locus related to this paper: human-ABHD5

Title : Novel Pharmacological Probes Reveal ABHD5 as a Locus of Lipolysis Control in White and Brown Adipocytes - Rondini_2017_J.Pharmacol.Exp.Ther_363_367
Author(s) : Rondini EA , Mladenovic-Lucas L , Roush WR , Halvorsen GT , Green AE , Granneman JG
Ref : Journal of Pharmacology & Experimental Therapeutics , 363 :367 , 2017
PubMedID: 28928121
Gene_locus related to this paper: human-ABHD5 , mouse-abhd5

Title : Positive regulation of prostate cancer cell growth by lipid droplet forming and processing enzymes DGAT1 and ABHD5 - Mitra_2017_BMC.Cancer_17_631
Author(s) : Mitra R , Le TT , Gorjala P , Goodman OB, Jr.
Ref : BMC Cancer , 17 :631 , 2017
PubMedID: 28877685
Gene_locus related to this paper: human-ABHD5

Title : Chanarin-Dorfman syndrome with rare renal involvement -
Author(s) : Verma SB , Mittal A , Wollina U , Eckstein GH , Gohel K , Giehl K
Ref : Br J Dermatol , 176 :545 , 2017
PubMedID: 27858988
Gene_locus related to this paper: human-ABHD5

Title : Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families - Shah_2017_Int.J.Dermatol_56_1406
Author(s) : Shah K , Mehmood S , Jan A , Abbe I , Hussain Ali R , Khan A , Chishti MS , Lee K , Ahmad F , Ansar M , Shahzad S , Nickerson DA , Bamshad MJ , Coucke PJ , Santos-Cortez RLP , Spritz RA , Leal SM , Ahmad W
Ref : Int J Dermatol , 56 :1406 , 2017
PubMedID: 29130490
Gene_locus related to this paper: human-ABHD5

Title : Skin Barrier Development Depends on CGI-58 Protein Expression during Late-Stage Keratinocyte Differentiation - Grond_2017_J.Invest.Dermatol_137_403
Author(s) : Grond S , Radner FP , Eichmann TO , Kolb D , Grabner GF , Wolinski H , Gruber R , Hofer P , Heier C , Schauer S , Rulicke T , Hoefler G , Schmuth M , Elias PM , Lass A , Zechner R , Haemmerle G
Ref : Journal of Investigative Dermatology , 137 :403 , 2017
PubMedID: 27725204
Gene_locus related to this paper: human-ABHD5

Title : Loss of ABHD5 promotes the aggressiveness of prostate cancer cells - Chen_2017_Sci.Rep_7_13021
Author(s) : Chen G , Zhou G , Aras S , He Z , Lucas S , Podgorski I , Skar W , Granneman JG , Wang J
Ref : Sci Rep , 7 :13021 , 2017
PubMedID: 29026202
Gene_locus related to this paper: human-ABHD5

Title : Critical roles for alpha\/beta hydrolase domain 5 (ABHD5)\/comparative gene identification-58 (CGI-58) at the lipid droplet interface and beyond - Brown_2017_Biochim.Biophys.Acta_1862_1233
Author(s) : Brown AL , Mark Brown J
Ref : Biochimica & Biophysica Acta , 1862 :1233 , 2017
PubMedID: 28827091
Gene_locus related to this paper: human-ABHD5

Title : Chanarin-Dorfman syndrome in three siblings in a non-consanguineous family -
Author(s) : Gomez-Moyano E , Godoy-Diaz DJ , Ponce-Verdugo L , Sanz-Trelles A , Vera-Casano A , Sierra-Salinas C
Ref : J Eur Acad Dermatol Venereol , 30 :157 , 2016
PubMedID: 25087691
Gene_locus related to this paper: human-ABHD5

Title : Chanarin Dorfman syndrome: a case report with novel nonsense mutation - Gupta_2016_Gene_575_359
Author(s) : Gupta N , Gothwal S , Satpathy AK , Missaglia S , Tavian D , Das P , Timila D , Kabra M
Ref : Gene , 575 :359 , 2016
PubMedID: 26353074
Gene_locus related to this paper: human-ABHD5

Title : ABHD5 interacts with BECN1 to regulate autophagy and tumorigenesis of colon cancer independent of PNPLA2 - Peng_2016_Autophagy_12_2167
Author(s) : Peng Y , Miao H , Wu S , Yang W , Zhang Y , Xie G , Xie X , Li J , Shi C , Ye L , Sun W , Wang L , Liang H , Ou J
Ref : Autophagy , 12 :2167 , 2016
PubMedID: 27559856
Gene_locus related to this paper: human-ABHD5

Title : Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients - Pigg_2016_Acta.Derm.Venereol_96_932
Author(s) : Pigg MH , Bygum A , Ganemo A , Virtanen M , Brandrup F , Zimmer AD , Hotz A , Vahlquist A , Fischer J
Ref : Acta Derm Venereol , 96 :932 , 2016
PubMedID: 27025581
Gene_locus related to this paper: human-ABHD5

Title : Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome -
Author(s) : Takeichi T , Sugiura K , Tso S , Simpson MA , McGrath JA , Akiyama M
Ref : J Dermatol Sci , 81 :134 , 2016
PubMedID: 26547112
Gene_locus related to this paper: human-ABHD5

Title : ABHD5\/CGI-58, the Chanarin-Dorfman Syndrome Protein, Mobilises Lipid Stores for Hepatitis C Virus Production - Vieyres_2016_PLoS.Pathog_12_e1005568
Author(s) : Vieyres G , Welsch K , Gerold G , Gentzsch J , Kahl S , Vondran FW , Kaderali L , Pietschmann T
Ref : PLoS Pathog , 12 :e1005568 , 2016
PubMedID: 27124600
Gene_locus related to this paper: human-ABHD5

Title : [Chanarin-Dorfman syndrome in a 7-year-old child: when myophathy and skin involvement are all but one] -
Author(s) : Barnerias C , Bassez G , Schischmanoff O
Ref : Med Sci (Paris) , 31 Spec No 3 :11 , 2015
PubMedID: 26546924
Gene_locus related to this paper: human-ABHD5

Title : Fatty Acid-binding Proteins Interact with Comparative Gene Identification-58 Linking Lipolysis with Lipid Ligand Shuttling - Hofer_2015_J.Biol.Chem_290_18438
Author(s) : Hofer P , Boeszoermenyi A , Jaeger D , Feiler U , Arthanari H , Mayer N , Zehender F , Rechberger G , Oberer M , Zimmermann R , Lass A , Haemmerle G , Breinbauer R , Zechner R , Preiss-Landl K
Ref : Journal of Biological Chemistry , 290 :18438 , 2015
PubMedID: 25953897
Gene_locus related to this paper: human-ABHD5

Title : Chanarin-Dorfman syndrome: a novel mutation in a Turkish girl - Unlusoy Aksu_2015_Turk.J.Pediatr_57_300
Author(s) : Unlusoy Aksu A , Sari S , Egritas Gurkan O , Dalgic B
Ref : Turk J Pediatr , 57 :300 , 2015
PubMedID: 26701953
Gene_locus related to this paper: human-ABHD5

Title : ATGL and CGI-58 are lipid droplet proteins of the hepatic stellate cell line HSC-T6 - Eichmann_2015_J.Lipid.Res_56_1972
Author(s) : Eichmann TO , Grumet L , Taschler U , Hartler J , Heier C , Woblistin A , Pajed L , Kollroser M , Rechberger G , Thallinger GG , Zechner R , Haemmerle G , Zimmermann R , Lass A
Ref : J Lipid Res , 56 :1972 , 2015
PubMedID: 26330055
Gene_locus related to this paper: human-ABHD5

Title : Structure of a CGI-58 Motif Provides the Molecular Basis of Lipid Droplet Anchoring - Boeszoermenyi_2015_J.Biol.Chem_290_26361
Author(s) : Boeszoermenyi A , Nagy HM , Arthanari H , Pillip CJ , Lindermuth H , Luna RE , Wagner G , Zechner R , Zangger K , Oberer M
Ref : Journal of Biological Chemistry , 290 :26361 , 2015
PubMedID: 26350461
Gene_locus related to this paper: human-ABHD5

Title : Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation - Nur_2015_Eur.J.Med.Genet_58_238
Author(s) : Nur BG , Gencpinar P , Yuzbasioglu A , Emre SD , Mihci E
Ref : Eur Journal of Medical Genetics , 58 :238 , 2015
PubMedID: 25682902
Gene_locus related to this paper: human-ABHD5

Title : CGI-58\/ABHD5 is phosphorylated on Ser239 by protein kinase A: control of subcellular localization - Sahu-Osen_2015_J.Lipid.Res_56_109
Author(s) : Sahu-Osen A , Montero-Moran G , Schittmayer M , Fritz K , Dinh A , Chang YF , McMahon D , Boeszoermenyi A , Cornaciu I , Russell D , Oberer M , Carman GM , Birner-Gruenberger R , Brasaemle DL
Ref : J Lipid Res , 56 :109 , 2015
PubMedID: 25421061
Gene_locus related to this paper: human-ABHD5

Title : Endogenous and Synthetic ABHD5 Ligands Regulate ABHD5-Perilipin Interactions and Lipolysis in Fat and Muscle - Sanders_2015_Cell.Metab_22_851
Author(s) : Sanders MA , Madoux F , Mladenovic L , Zhang H , Ye X , Angrish M , Mottillo EP , Caruso JA , Halvorsen G , Roush WR , Chase P , Hodder P , Granneman JG
Ref : Cell Metab , 22 :851 , 2015
PubMedID: 26411340
Gene_locus related to this paper: human-ABHD5 , mouse-abhd5

Title : Loss of abhd5 promotes colorectal tumor development and progression by inducing aerobic glycolysis and epithelial-mesenchymal transition - Ou_2014_Cell.Rep_9_1798
Author(s) : Ou J , Miao H , Ma Y , Guo F , Deng J , Wei X , Zhou J , Xie G , Shi H , Xue B , Liang H , Yu L
Ref : Cell Rep , 9 :1798 , 2014
PubMedID: 25482557
Gene_locus related to this paper: human-ABHD5

Title : Dorfman-Chanarin syndrome without mental retardation caused by a homozygous ABHD5 splice site mutation that skips exon 6 -
Author(s) : Sugiura K , Suga Y , Akiyama M
Ref : J Dermatol Sci , 75 :199 , 2014
PubMedID: 24996587
Gene_locus related to this paper: human-ABHD5

Title : Chanarin-Dorfman syndrome: clinical report and novel mutation in ABHD5 gene - Tamhankar_2014_J.Postgrad.Med_60_332
Author(s) : Tamhankar PM , Iyer S , Sanghavi S , Khopkar U
Ref : J Postgrad Med , 60 :332 , 2014
PubMedID: 25121381
Gene_locus related to this paper: human-ABHD5

Title : Acitretin-responsive ichthyosis in Chanarin-Dorfman syndrome with a novel mutation in the ABHD5\/CGI-58 gene - Srinivasaraghavan_2014_Pediatr.Dermatol_31_612
Author(s) : Srinivasaraghavan R , Krishnamurthy S , Chandar R , Cassandrini D , Mahadevan S , Bruno C , Santorelli FM
Ref : Pediatr Dermatol , 31 :612 , 2014
PubMedID: 23756328
Gene_locus related to this paper: human-ABHD5

Title : Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter - Missaglia_2014_BMC.Med.Genet_15_32
Author(s) : Missaglia S , Valadares ER , Moro L , Faguntes ED , Quintao Roque R , Giardina B , Tavian D
Ref : BMC Med Genet , 15 :32 , 2014
PubMedID: 24628803
Gene_locus related to this paper: human-ABHD5

Title : Comparative gene identification 58\/alpha\/beta hydrolase domain 5 lacks lysophosphatidic acid acyltransferase activity - McMahon_2014_J.Lipid.Res_55_1750
Author(s) : McMahon D , Dinh A , Kurz D , Shah D , Han GS , Carman GM , Brasaemle DL
Ref : J Lipid Res , 55 :1750 , 2014
PubMedID: 24879803
Gene_locus related to this paper: human-ABHD5

Title : Comparative gene identification-58 (CGI-58) promotes autophagy as a putative lysophosphatidylglycerol acyltransferase - Zhang_2014_J.Biol.Chem_289_33044
Author(s) : Zhang J , Xu D , Nie J , Han R , Zhai Y , Shi Y
Ref : Journal of Biological Chemistry , 289 :33044 , 2014
PubMedID: 25315780
Gene_locus related to this paper: human-ABHD5

Title : Chanarin-dorfman syndrome with multi-system involvement in two siblings - Arslansoyu Camlar_2013_Turk.J.Haematol_30_72
Author(s) : Arslansoyu Camlar S , Gencpinar P , Makay B , Yuzbasioglu A , Arslan N , Emre Dokmeci S , Anal O , Kose G
Ref : Turk J Haematol , 30 :72 , 2013
PubMedID: 24385758
Gene_locus related to this paper: human-ABHD5

Title : Biochemistry and pathophysiology of intravascular and intracellular lipolysis - Young_2013_Genes.Dev_27_459
Author(s) : Young SG , Zechner R
Ref : Genes Dev , 27 :459 , 2013
PubMedID: 23475957
Gene_locus related to this paper: human-ABHD5 , human-LPL

Title : Distinct roles for alpha-beta hydrolase domain 5 (ABHD5\/CGI-58) and adipose triglyceride lipase (ATGL\/PNPLA2) in lipid metabolism and signaling - Lord_2012_Adipocyte_1_123
Author(s) : Lord CC , Brown JM
Ref : Adipocyte , 1 :123 , 2012
PubMedID: 23145367
Gene_locus related to this paper: human-ABHD5

Title : Beneficial effect of acitretin in Chanarin-Dorfman syndrome - Israeli_2012_Clin.Exp.Dermatol_37_31
Author(s) : Israeli S , Pessach Y , Sarig O , Goldberg I , Sprecher E
Ref : Clinical & Experimental Dermatologyatol , 37 :31 , 2012
PubMedID: 21981352
Gene_locus related to this paper: human-ABHD5

Title : Novel nonsense mutation of ABHD5 in Dorfman-Chanarin syndrome with unusual findings: a challenge for genotype-phenotype correlation. - Aggarwal_2012_Eur.J.Med.Genet_55_173
Author(s) : Aggarwal S , Maras JS , Alam S , Khanna R , Gupta SK , Ahuja A
Ref : Eur Journal of Medical Genetics , 55 :173 , 2012
PubMedID: 22373837
Gene_locus related to this paper: human-ABHD5

Title : CGI-58\/ABHD5-derived signaling lipids regulate systemic inflammation and insulin action - Lord_2012_Diabetes_61_355
Author(s) : Lord CC , Betters JL , Ivanova PT , Milne SB , Myers DS , Madenspacher J , Thomas G , Chung S , Liu M , Davis MA , Lee RG , Crooke RM , Graham MJ , Parks JS , Brasaemle DL , Fessler MB , Brown HA , Brown JM
Ref : Diabetes , 61 :355 , 2012
PubMedID: 22228714
Gene_locus related to this paper: human-ABHD5

Title : Steatohepatitis and liver cirrhosis in Chanarin-Dorfman syndrome with a new ABDH5 mutation - Cakmak_2012_Clin.Res.Hepatol.Gastroenterol_36_e34
Author(s) : Cakmak E , Alagozlu H , Yonem O , Ataseven H , Citli S , Ozer H
Ref : Clin Res Hepatol Gastroenterol , 36 :e34 , 2012
PubMedID: 22245374
Gene_locus related to this paper: human-ABHD5

Title : Recent insights into the structure and function of comparative gene identification-58 - Oberer_2011_Curr.Opin.Lipidol_22_149
Author(s) : Oberer M , Boeszoermenyi A , Nagy HM , Zechner R
Ref : Curr Opin Lipidol , 22 :149 , 2011
PubMedID: 21494142
Gene_locus related to this paper: human-ABHD5

Title : The minimal domain of adipose triglyceride lipase (ATGL) ranges until leucine 254 and can be activated and inhibited by CGI-58 and G0S2, respectively - Cornaciu_2011_PLoS.One_6_e26349
Author(s) : Cornaciu I , Boeszoermenyi A , Lindermuth H , Nagy HM , Cerk IK , Ebner C , Salzburger B , Gruber A , Schweiger M , Zechner R , Lass A , Zimmermann R , Oberer M
Ref : PLoS ONE , 6 :e26349 , 2011
PubMedID: 22039468
Gene_locus related to this paper: human-ABHD5

Title : 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) - Gandotra_2011_J.Biol.Chem_286_34998
Author(s) : Gandotra S , Lim K , Girousse A , Saudek V , O'Rahilly S , Savage DB
Ref : Journal of Biological Chemistry , 286 :34998 , 2011
PubMedID: 21757733
Gene_locus related to this paper: human-ABHD5

Title : An exceptional mutational event leading to Chanarin-Dorfman syndrome in a large consanguineous family - Samuelov_2011_Br.J.Dermatol_164_1390
Author(s) : Samuelov L , Fuchs-Telem D , Sarig O , Sprecher E
Ref : Br J Dermatol , 164 :1390 , 2011
PubMedID: 21332462
Gene_locus related to this paper: human-ABHD5

Title : Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene - Redaelli_2010_Orphanet.J.Rare.Dis_5_33
Author(s) : Redaelli C , Coleman RA , Moro L , Dacou-Voutetakis C , Elsayed SM , Prati D , Colli A , Mela D , Colombo R , Tavian D
Ref : Orphanet J Rare Dis , 5 :33 , 2010
PubMedID: 21122093
Gene_locus related to this paper: human-ABHD5

Title : Liver cirrhosis in an infant with Chanarin-Dorfman syndrome caused by a novel splice-site mutation in ABHD5 - Cakir_2010_Acta.Paediatr_99_1592
Author(s) : Cakir M , Bruno C , Cansu A , Cobanoglu U , Erduran E
Ref : Acta Paediatr , 99 :1592 , 2010
PubMedID: 20528790
Gene_locus related to this paper: human-ABHD5

Title : CGI-58 knockdown in mice causes hepatic steatosis but prevents diet-induced obesity and glucose intolerance - Brown_2010_J.Lipid.Res_51_3306
Author(s) : Brown JM , Betters JL , Lord C , Ma Y , Han X , Yang K , Alger HM , Melchior J , Sawyer J , Shah R , Wilson MD , Liu X , Graham MJ , Lee R , Crooke R , Shulman GI , Xue B , Shi H , Yu L
Ref : J Lipid Res , 51 :3306 , 2010
PubMedID: 20802159
Gene_locus related to this paper: human-ABHD5 , mouse-abhd5

Title : Living donor liver transplantation for Dorfman-Chanarin syndrome with 1 year follow-up: case report - Takeda_2010_Transplant.Proc_42_3858
Author(s) : Takeda K , Tanaka K , Kumamoto T , Morioka D , Endo I , Togo S , Shimada H
Ref : Transplant Proc , 42 :3858 , 2010
PubMedID: 21094870
Gene_locus related to this paper: human-ABHD5

Title : Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase - Yamaguchi_2009_Biochim.Biophys.Acta_1791_519
Author(s) : Yamaguchi T , Osumi T
Ref : Biochimica & Biophysica Acta , 1791 :519 , 2009
PubMedID: 19061969
Gene_locus related to this paper: human-ABHD5

Title : Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase\/PNPLA2 or CGI-58\/ABHD5 - Schweiger_2009_Am.J.Physiol.Endocrinol.Metab_297_E289
Author(s) : Schweiger M , Lass A , Zimmermann R , Eichmann TO , Zechner R
Ref : American Journal of Physiology Endocrinol Metab , 297 :E289 , 2009
PubMedID: 19401457
Gene_locus related to this paper: human-ABHD5

Title : Chanarin-Dorfman syndrome caused by a novel splice site mutation in ABHD5 -
Author(s) : Badeloe S , van Geel M , Nagtzaam I , Rubio-Gozalbo ME , Oei RL , Steijlen PM , van Steensel MA
Ref : Br J Dermatol , 158 :1378 , 2008
PubMedID: 18410411
Gene_locus related to this paper: human-ABHD5

Title : CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid - Ghosh_2008_J.Biol.Chem_283_24525
Author(s) : Ghosh AK , Ramakrishnan G , Chandramohan C , Rajasekharan R
Ref : Journal of Biological Chemistry , 283 :24525 , 2008
PubMedID: 18606822
Gene_locus related to this paper: human-ABHD5

Title : Opposed-phase MR imaging of lipid storage myopathy in a case of Chanarin-Dorfman disease - Gaeta_2008_Skeletal.Radiol_37_1053
Author(s) : Gaeta M , Minutoli F , Toscano A , Celona A , Musumeci O , Racchiusa S , Mazziotti S
Ref : Skeletal Radiol , 37 :1053 , 2008
PubMedID: 18682927
Gene_locus related to this paper: human-ABHD5

Title : Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABHD5 mutation - Ronchetti_2008_J.Hepatol_49_474
Author(s) : Ronchetti A , Prati D , Pezzotta MG , Tavian D , Colombo R , Callea F , Colli A
Ref : Journal of Hepatology , 49 :474 , 2008
PubMedID: 18644654
Gene_locus related to this paper: human-ABHD5

Title : Clinical and genetic characterization of Chanarin-Dorfman syndrome. - Bruno_2008_Biochem.Biophys.Res.Commun_369_1125
Author(s) : Bruno C , Bertini E , Di Rocco M , Cassandrini D , Ruffa G , De Toni T , Seri M , Spada M , Li Volti G , D'Amico A , Trucco F , Arca M , Casali C , Angelini C , Dimauro S , Minetti C
Ref : Biochemical & Biophysical Research Communications , 369 :1125 , 2008
PubMedID: 18339307
Gene_locus related to this paper: human-ABHD5

Title : A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome -
Author(s) : Ben Selma Z , Yilmaz S , Schischmanoff PO , Blom A , Ozogul C , Laroche L , Caux F
Ref : Journal of Investigative Dermatology , 127 :2273 , 2007
PubMedID: 17495960
Gene_locus related to this paper: human-ABHD5

Title : Severe oily ichthyosis in monozygotic twins mimicking Chanarin-Dorfman syndrome but not associated with a mutation of the CGI58 gene -
Author(s) : Solomon C , Bernier L , Germain L , Dufour R , Davignon J
Ref : Arch Dermatol , 142 :402 , 2006
PubMedID: 16549731
Gene_locus related to this paper: human-ABHD5

Title : The DNA sequence, annotation and analysis of human chromosome 3 - Muzny_2006_Nature_440_1194
Author(s) : Muzny DM , Scherer SE , Kaul R , Wang J , Yu J , Sudbrak R , Buhay CJ , Chen R , Cree A , Ding Y , Dugan-Rocha S , Gill R , Gunaratne P , Harris RA , Hawes AC , Hernandez J , Hodgson AV , Hume J , Jackson A , Khan ZM , Kovar-Smith C , Lewis LR , Lozado RJ , Metzker ML , Milosavljevic A , Miner GR , Morgan MB , Nazareth LV , Scott G , Sodergren E , Song XZ , Steffen D , Wei S , Wheeler DA , Wright MW , Worley KC , Yuan Y , Zhang Z , Adams CQ , Ansari-Lari MA , Ayele M , Brown MJ , Chen G , Chen Z , Clendenning J , Clerc-Blankenburg KP , Davis C , Delgado O , Dinh HH , Dong W , Draper H , Ernst S , Fu G , Gonzalez-Garay ML , Garcia DK , Gillett W , Gu J , Hao B , Haugen E , Havlak P , He X , Hennig S , Hu S , Huang W , Jackson LR , Jacob LS , Kelly SH , Kube M , Levy R , Li Z , Liu B , Liu J , Liu W , Lu J , Maheshwari M , Nguyen BV , Okwuonu GO , Palmeiri A , Pasternak S , Perez LM , Phelps KA , Plopper FJ , Qiang B , Raymond C , Rodriguez R , Saenphimmachak C , Santibanez J , Shen H , Shen Y , Subramanian S , Tabor PE , Verduzco D , Waldron L , Wang Q , Williams GA , Wong GK , Yao Z , Zhang J , Zhang X , Zhao G , Zhou J , Zhou Y , Nelson D , Lehrach H , Reinhardt R , Naylor SL , Yang H , Olson M , Weinstock G , Gibbs RA
Ref : Nature , 440 :1194 , 2006
PubMedID: 16641997
Gene_locus related to this paper: human-AADAC , human-AADACL2 , human-ABHD5 , human-ABHD6 , human-ABHD10 , human-ABHD14A , human-APEH , human-BCHE , human-CIB , human-LIPH , human-MGLL , human-NLGN1 , human-PLA1A

Title : Fat breakdown: a function for CGI-58 (ABHD5) provides a new piece of the puzzle - Yen_2006_Cell.Metab_3_305
Author(s) : Yen CL , Farese RV, Jr.
Ref : Cell Metab , 3 :305 , 2006
PubMedID: 16679288
Gene_locus related to this paper: human-ABHD5

Title : Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome - Lass_2006_Cell.Metab_3_309
Author(s) : Lass A , Zimmermann R , Haemmerle G , Riederer M , Schoiswohl G , Schweiger M , Kienesberger P , Strauss JG , Gorkiewicz G , Zechner R
Ref : Cell Metab , 3 :309 , 2006
PubMedID: 16679289
Gene_locus related to this paper: human-ABHD5

Title : Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndrome - Pujol_2005_Br.J.Dermatol_153_838
Author(s) : Pujol RM , Gilaberte M , Toll A , Florensa L , Lloreta J , Gonzalez-Ensenat MA , Fischer J , Azon A
Ref : Br J Dermatol , 153 :838 , 2005
PubMedID: 16181472
Gene_locus related to this paper: human-ABHD5

Title : Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease -
Author(s) : Schleinitz N , Fischer J , Sanchez A , Veit V , Harle JR , Pelissier JF
Ref : Arch Dermatol , 141 :798 , 2005
PubMedID: 15967942
Gene_locus related to this paper: human-ABHD5

Title : Steatohepatitis and unsuspected micronodular cirrhosis in Dorfman-Chanarin syndrome with documented ABHD5 mutation - Srinivasan_2004_J.Pediatr_144_662
Author(s) : Srinivasan R , Hadzic N , Fischer J , Knisely AS
Ref : J Pediatr , 144 :662 , 2004
PubMedID: 15127008
Gene_locus related to this paper: human-ABHD5

Title : CGI-58 interacts with perilipin and is localized to lipid droplets. Possible involvement of CGI-58 mislocalization in Chanarin-Dorfman syndrome - Yamaguchi_2004_J.Biol.Chem_279_30490
Author(s) : Yamaguchi T , Omatsu N , Matsushita S , Osumi T
Ref : Journal of Biological Chemistry , 279 :30490 , 2004
PubMedID: 15136565
Gene_locus related to this paper: ratno-abhd5 , human-ABHD5

Title : CGI-58\/ABHD5 gene is mutated in Dorfman-Chanarin syndrome -
Author(s) : Caux F , Selma ZB , Laroche L , Prud'homme JF , Fischer J
Ref : American Journal of Medicine Genet A , 129A :214 , 2004
PubMedID: 15316960
Gene_locus related to this paper: human-ABHD5

Title : Dorfman-Chanarin syndrome in Egypt -
Author(s) : EI-Kabbany Z , Elsayed SM , Rashad M , Tareef R , Galal N
Ref : American Journal of Medicine Genet A , 121A :75 , 2003
PubMedID: 12900907
Gene_locus related to this paper: human-ABHD5

Title : Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome - Akiyama_2003_J.Invest.Dermatol_121_1029
Author(s) : Akiyama M , Sawamura D , Nomura Y , Sugawara M , Shimizu H
Ref : Journal of Investigative Dermatology , 121 :1029 , 2003
PubMedID: 14708602
Gene_locus related to this paper: human-ABHD5

Title : Mutations in CGI-58, the gene encoding a new protein of the esterase\/lipase\/thioesterase subfamily, in Chanarin-Dorfman syndrome - Lefevre_2001_Am.J.Hum.Genet_69_1002
Author(s) : Lefevre C , Jobard F , Caux F , Bouadjar B , Karaduman A , Heilig R , Lakhdar H , Wollenberg A , Verret JL , Weissenbach J , Ozguc M , Lathrop M , Prud'homme JF , Fischer J
Ref : American Journal of Human Genetics , 69 :1002 , 2001
PubMedID: 11590543
Gene_locus related to this paper: human-ABHD5

Title : Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics - Lai_2000_Genome.Res_10_703
Author(s) : Lai CH , Chou CY , Ch'ang LY , Liu CS , Lin W
Ref : Genome Res , 10 :703 , 2000
PubMedID: 10810093
Gene_locus related to this paper: human-ABHD5 , human-ABHD17B