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
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
| 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 |
| Abstract : Kulminskaya_2023_J.Lipid.Res__100491 |
| ESTHER : Kulminskaya_2023_J.Lipid.Res__100491 |
| PubMedSearch : Kulminskaya_2023_J.Lipid.Res__100491 |
| 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 |
| Abstract : Huang_2023_Metabolism_148_155693 |
| ESTHER : Huang_2023_Metabolism_148_155693 |
| PubMedSearch : Huang_2023_Metabolism_148_155693 |
| 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 |
| Abstract : Guerrero-Santoro_2023_JCI.Insight_8_e168717 |
| ESTHER : Guerrero-Santoro_2023_JCI.Insight_8_e168717 |
| PubMedSearch : Guerrero-Santoro_2023_JCI.Insight_8_e168717 |
| 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 |
| Abstract : Mottillo_2023_Cell.Rep.Methods_3_100394 |
| ESTHER : Mottillo_2023_Cell.Rep.Methods_3_100394 |
| PubMedSearch : Mottillo_2023_Cell.Rep.Methods_3_100394 |
| PubMedID: 36936069 |
| Gene_locus related to this paper: human-ABHD5 |
| 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 |
| Abstract : Yang_2023_Arch.Med.Res_55_102925 |
| ESTHER : Yang_2023_Arch.Med.Res_55_102925 |
| PubMedSearch : Yang_2023_Arch.Med.Res_55_102925 |
| PubMedID: 38042031 |
| 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 |
| Abstract : Schratter_2022_Metabolites_12_1015 |
| ESTHER : Schratter_2022_Metabolites_12_1015 |
| PubMedSearch : Schratter_2022_Metabolites_12_1015 |
| 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 |
| Abstract : Llamas-Garcia_2022_ACS.Omega_7_12643 |
| ESTHER : Llamas-Garcia_2022_ACS.Omega_7_12643 |
| PubMedSearch : Llamas-Garcia_2022_ACS.Omega_7_12643 |
| 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 |
| Abstract : Tseng_2022_Sci.Rep_12_2565 |
| ESTHER : Tseng_2022_Sci.Rep_12_2565 |
| PubMedSearch : Tseng_2022_Sci.Rep_12_2565 |
| PubMedID: 35173175 |
| 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 |
| Abstract : Bricola_2022_Cell.Biochem.Funct__ |
| ESTHER : Bricola_2022_Cell.Biochem.Funct__ |
| PubMedSearch : Bricola_2022_Cell.Biochem.Funct__ |
| 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 |
| Abstract : Shahoei_2022_Front.Mol.Biosci_9_935375 |
| ESTHER : Shahoei_2022_Front.Mol.Biosci_9_935375 |
| PubMedSearch : Shahoei_2022_Front.Mol.Biosci_9_935375 |
| 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 |
| Abstract : Gupta_2022_J.Biol.Chem__ |
| ESTHER : Gupta_2022_J.Biol.Chem__ |
| PubMedSearch : Gupta_2022_J.Biol.Chem__ |
| PubMedID: 35963433 |
| 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 |
| Abstract : Tavian_2021_Eur.J.Transl.Myol__ |
| ESTHER : Tavian_2021_Eur.J.Transl.Myol__ |
| PubMedSearch : Tavian_2021_Eur.J.Transl.Myol__ |
| 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 |
| Abstract : Cakmak_2021_Liver.Int_41_905 |
| ESTHER : Cakmak_2021_Liver.Int_41_905 |
| PubMedSearch : Cakmak_2021_Liver.Int_41_905 |
| PubMedID: 33455044 |
| 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 |
| Abstract : Wang_2021_DNA.Cell.Biol_40_219 |
| ESTHER : Wang_2021_DNA.Cell.Biol_40_219 |
| PubMedSearch : Wang_2021_DNA.Cell.Biol_40_219 |
| PubMedID: 33332227 |
| Gene_locus related to this paper: bovin-q0vcc8 , 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 |
| Abstract : Yu_2020_Adv.Exp.Med.Biol_1276_197 |
| ESTHER : Yu_2020_Adv.Exp.Med.Biol_1276_197 |
| PubMedSearch : Yu_2020_Adv.Exp.Med.Biol_1276_197 |
| 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 : 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 |
| Abstract : Zhou_2020_Cancer.Biother.Radiopharm__ |
| ESTHER : Zhou_2020_Cancer.Biother.Radiopharm__ |
| PubMedSearch : Zhou_2020_Cancer.Biother.Radiopharm__ |
| 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 |
| Abstract : Peng_2020_Reprod.Sci_27_233 |
| ESTHER : Peng_2020_Reprod.Sci_27_233 |
| PubMedSearch : Peng_2020_Reprod.Sci_27_233 |
| PubMedID: 32046372 |
| 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 |
| Abstract : Carlsson_2020_Aliment.Pharmacol.Ther_51_1305 |
| ESTHER : Carlsson_2020_Aliment.Pharmacol.Ther_51_1305 |
| PubMedSearch : Carlsson_2020_Aliment.Pharmacol.Ther_51_1305 |
| 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 |
| Abstract : Yang_2020_Sci.Rep_10_4701 |
| ESTHER : Yang_2020_Sci.Rep_10_4701 |
| PubMedSearch : Yang_2020_Sci.Rep_10_4701 |
| 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 |
| Abstract : Chen_2020_J.Biol.Chem_296_100104 |
| ESTHER : Chen_2020_J.Biol.Chem_296_100104 |
| PubMedSearch : Chen_2020_J.Biol.Chem_296_100104 |
| PubMedID: 33219129 |
| 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 |
| Abstract : Liang_2020_J.Exp.Clin.Cancer.Res_39_176 |
| ESTHER : Liang_2020_J.Exp.Clin.Cancer.Res_39_176 |
| PubMedSearch : Liang_2020_J.Exp.Clin.Cancer.Res_39_176 |
| PubMedID: 32867817 |
| 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 |
| Abstract : Vieyres_2020_PLoS.Pathog_16_e1008554 |
| ESTHER : Vieyres_2020_PLoS.Pathog_16_e1008554 |
| PubMedSearch : Vieyres_2020_PLoS.Pathog_16_e1008554 |
| PubMedID: 32542055 |
| 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 : 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 |
| Abstract : Eskiocak_2019_Lipids.Health.Dis_18_232 |
| ESTHER : Eskiocak_2019_Lipids.Health.Dis_18_232 |
| PubMedSearch : Eskiocak_2019_Lipids.Health.Dis_18_232 |
| PubMedID: 31883530 |
| 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 |
| Abstract : Jebessa_2019_Nat.Metab_1_1157 |
| ESTHER : Jebessa_2019_Nat.Metab_1_1157 |
| PubMedSearch : Jebessa_2019_Nat.Metab_1_1157 |
| PubMedID: 31742248 |
| 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 |
| Abstract : Yang_2019_Nat.Metab_1_560 |
| ESTHER : Yang_2019_Nat.Metab_1_560 |
| PubMedSearch : Yang_2019_Nat.Metab_1_560 |
| PubMedID: 31497752 |
| 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 |
| Abstract : Louhichi_2019_Orphanet.J.Rare.Dis_14_112 |
| ESTHER : Louhichi_2019_Orphanet.J.Rare.Dis_14_112 |
| PubMedSearch : Louhichi_2019_Orphanet.J.Rare.Dis_14_112 |
| PubMedID: 31118107 |
| 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 |
| Abstract : Missaglia_2019_Cells_8_ |
| ESTHER : Missaglia_2019_Cells_8_ |
| PubMedSearch : Missaglia_2019_Cells_8_ |
| PubMedID: 30795549 |
| 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 |
| Abstract : Youssefian_2019_J.Hepatol_71_366 |
| ESTHER : Youssefian_2019_J.Hepatol_71_366 |
| PubMedSearch : Youssefian_2019_J.Hepatol_71_366 |
| PubMedID: 30954460 |
| 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 |
| Abstract : Ou_2019_Nat.Commun_10_1078 |
| ESTHER : Ou_2019_Nat.Commun_10_1078 |
| PubMedSearch : Ou_2019_Nat.Commun_10_1078 |
| 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 |
| Abstract : Shang_2019_Cancer.Res_79_5513 |
| ESTHER : Shang_2019_Cancer.Res_79_5513 |
| PubMedSearch : Shang_2019_Cancer.Res_79_5513 |
| 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 |
| Abstract : Zhou_2019_Cancer.Manag.Res_11_2139 |
| ESTHER : Zhou_2019_Cancer.Manag.Res_11_2139 |
| PubMedSearch : Zhou_2019_Cancer.Manag.Res_11_2139 |
| PubMedID: 30936746 |
| 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 |
| Abstract : Durdu_2018_BMC.Med.Genet_19_88 |
| ESTHER : Durdu_2018_BMC.Med.Genet_19_88 |
| PubMedSearch : Durdu_2018_BMC.Med.Genet_19_88 |
| 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 |
| Abstract : Kien_2018_J.Lipid.Res_59_2360 |
| ESTHER : Kien_2018_J.Lipid.Res_59_2360 |
| PubMedSearch : Kien_2018_J.Lipid.Res_59_2360 |
| PubMedID: 30361410 |
| 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 |
| Abstract : Ohno_2018_J.Dermatol.Sci_92_245 |
| ESTHER : Ohno_2018_J.Dermatol.Sci_92_245 |
| PubMedSearch : Ohno_2018_J.Dermatol.Sci_92_245 |
| 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 : 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 |
| Abstract : Nakhaei_2018_Iran.Biomed.J_22_415 |
| ESTHER : Nakhaei_2018_Iran.Biomed.J_22_415 |
| PubMedSearch : Nakhaei_2018_Iran.Biomed.J_22_415 |
| PubMedID: 29475365 |
| 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 |
| Abstract : Grond_2017_J.Invest.Dermatol_137_403 |
| ESTHER : Grond_2017_J.Invest.Dermatol_137_403 |
| PubMedSearch : Grond_2017_J.Invest.Dermatol_137_403 |
| 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 |
| Abstract : Chen_2017_Sci.Rep_7_13021 |
| ESTHER : Chen_2017_Sci.Rep_7_13021 |
| PubMedSearch : Chen_2017_Sci.Rep_7_13021 |
| PubMedID: 29026202 |
| 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 |
| Abstract : Balwani_2017_J.Nephropharmacol_6_23 |
| ESTHER : Balwani_2017_J.Nephropharmacol_6_23 |
| PubMedSearch : Balwani_2017_J.Nephropharmacol_6_23 |
| PubMedID: 28508023 |
| 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 |
| Abstract : Brown_2017_Biochim.Biophys.Acta_1862_1233 |
| ESTHER : Brown_2017_Biochim.Biophys.Acta_1862_1233 |
| PubMedSearch : Brown_2017_Biochim.Biophys.Acta_1862_1233 |
| PubMedID: 28827091 |
| 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 |
| Abstract : Shah_2017_Int.J.Dermatol_56_1406 |
| ESTHER : Shah_2017_Int.J.Dermatol_56_1406 |
| PubMedSearch : Shah_2017_Int.J.Dermatol_56_1406 |
| PubMedID: 29130490 |
| 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 |
| Abstract : Rondini_2017_J.Pharmacol.Exp.Ther_363_367 |
| ESTHER : Rondini_2017_J.Pharmacol.Exp.Ther_363_367 |
| PubMedSearch : Rondini_2017_J.Pharmacol.Exp.Ther_363_367 |
| 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 |
| Abstract : Mitra_2017_BMC.Cancer_17_631 |
| ESTHER : Mitra_2017_BMC.Cancer_17_631 |
| PubMedSearch : Mitra_2017_BMC.Cancer_17_631 |
| 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 : 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 |
| Abstract : Gupta_2016_Gene_575_359 |
| ESTHER : Gupta_2016_Gene_575_359 |
| PubMedSearch : Gupta_2016_Gene_575_359 |
| 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 |
| Abstract : Peng_2016_Autophagy_12_2167 |
| ESTHER : Peng_2016_Autophagy_12_2167 |
| PubMedSearch : Peng_2016_Autophagy_12_2167 |
| 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 |
| Abstract : Pigg_2016_Acta.Derm.Venereol_96_932 |
| ESTHER : Pigg_2016_Acta.Derm.Venereol_96_932 |
| PubMedSearch : Pigg_2016_Acta.Derm.Venereol_96_932 |
| 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 |
| Abstract : Vieyres_2016_PLoS.Pathog_12_e1005568 |
| ESTHER : Vieyres_2016_PLoS.Pathog_12_e1005568 |
| PubMedSearch : Vieyres_2016_PLoS.Pathog_12_e1005568 |
| PubMedID: 27124600 |
| 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 |
| Abstract : Unlusoy Aksu_2015_Turk.J.Pediatr_57_300 |
| ESTHER : Unlusoy Aksu_2015_Turk.J.Pediatr_57_300 |
| PubMedSearch : Unlusoy Aksu_2015_Turk.J.Pediatr_57_300 |
| PubMedID: 26701953 |
| 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 : 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 |
| Abstract : Sanders_2015_Cell.Metab_22_851 |
| ESTHER : Sanders_2015_Cell.Metab_22_851 |
| PubMedSearch : Sanders_2015_Cell.Metab_22_851 |
| PubMedID: 26411340 |
| Gene_locus related to this paper: human-ABHD5 , mouse-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 |
| Abstract : Hofer_2015_J.Biol.Chem_290_18438 |
| ESTHER : Hofer_2015_J.Biol.Chem_290_18438 |
| PubMedSearch : Hofer_2015_J.Biol.Chem_290_18438 |
| PubMedID: 25953897 |
| 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 |
| Abstract : Eichmann_2015_J.Lipid.Res_56_1972 |
| ESTHER : Eichmann_2015_J.Lipid.Res_56_1972 |
| PubMedSearch : Eichmann_2015_J.Lipid.Res_56_1972 |
| PubMedID: 26330055 |
| 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 |
| Abstract : Nur_2015_Eur.J.Med.Genet_58_238 |
| ESTHER : Nur_2015_Eur.J.Med.Genet_58_238 |
| PubMedSearch : Nur_2015_Eur.J.Med.Genet_58_238 |
| PubMedID: 25682902 |
| 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 |
| Abstract : Boeszoermenyi_2015_J.Biol.Chem_290_26361 |
| ESTHER : Boeszoermenyi_2015_J.Biol.Chem_290_26361 |
| PubMedSearch : Boeszoermenyi_2015_J.Biol.Chem_290_26361 |
| PubMedID: 26350461 |
| 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 |
| Abstract : Sahu-Osen_2015_J.Lipid.Res_56_109 |
| ESTHER : Sahu-Osen_2015_J.Lipid.Res_56_109 |
| PubMedSearch : Sahu-Osen_2015_J.Lipid.Res_56_109 |
| PubMedID: 25421061 |
| 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 |
| Abstract : Missaglia_2014_BMC.Med.Genet_15_32 |
| ESTHER : Missaglia_2014_BMC.Med.Genet_15_32 |
| PubMedSearch : Missaglia_2014_BMC.Med.Genet_15_32 |
| 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 |
| Abstract : McMahon_2014_J.Lipid.Res_55_1750 |
| ESTHER : McMahon_2014_J.Lipid.Res_55_1750 |
| PubMedSearch : McMahon_2014_J.Lipid.Res_55_1750 |
| 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 |
| Abstract : Zhang_2014_J.Biol.Chem_289_33044 |
| ESTHER : Zhang_2014_J.Biol.Chem_289_33044 |
| PubMedSearch : Zhang_2014_J.Biol.Chem_289_33044 |
| PubMedID: 25315780 |
| 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 - 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 |
| Abstract : Ou_2014_Cell.Rep_9_1798 |
| ESTHER : Ou_2014_Cell.Rep_9_1798 |
| PubMedSearch : Ou_2014_Cell.Rep_9_1798 |
| PubMedID: 25482557 |
| 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 |
| Abstract : Srinivasaraghavan_2014_Pediatr.Dermatol_31_612 |
| ESTHER : Srinivasaraghavan_2014_Pediatr.Dermatol_31_612 |
| PubMedSearch : Srinivasaraghavan_2014_Pediatr.Dermatol_31_612 |
| PubMedID: 23756328 |
| 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 |
| Abstract : Tamhankar_2014_J.Postgrad.Med_60_332 |
| ESTHER : Tamhankar_2014_J.Postgrad.Med_60_332 |
| PubMedSearch : Tamhankar_2014_J.Postgrad.Med_60_332 |
| PubMedID: 25121381 |
| 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 |
| Abstract : Young_2013_Genes.Dev_27_459 |
| ESTHER : Young_2013_Genes.Dev_27_459 |
| PubMedSearch : Young_2013_Genes.Dev_27_459 |
| PubMedID: 23475957 |
| Gene_locus related to this paper: human-ABHD5 , human-LPL |
| 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 |
| Abstract : Arslansoyu Camlar_2013_Turk.J.Haematol_30_72 |
| ESTHER : Arslansoyu Camlar_2013_Turk.J.Haematol_30_72 |
| PubMedSearch : Arslansoyu Camlar_2013_Turk.J.Haematol_30_72 |
| PubMedID: 24385758 |
| 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 |
| Abstract : Aggarwal_2012_Eur.J.Med.Genet_55_173 |
| ESTHER : Aggarwal_2012_Eur.J.Med.Genet_55_173 |
| PubMedSearch : Aggarwal_2012_Eur.J.Med.Genet_55_173 |
| PubMedID: 22373837 |
| 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 |
| Abstract : Cakmak_2012_Clin.Res.Hepatol.Gastroenterol_36_e34 |
| ESTHER : Cakmak_2012_Clin.Res.Hepatol.Gastroenterol_36_e34 |
| PubMedSearch : Cakmak_2012_Clin.Res.Hepatol.Gastroenterol_36_e34 |
| PubMedID: 22245374 |
| 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 |
| Abstract : Lord_2012_Diabetes_61_355 |
| ESTHER : Lord_2012_Diabetes_61_355 |
| PubMedSearch : Lord_2012_Diabetes_61_355 |
| PubMedID: 22228714 |
| Gene_locus related to this paper: human-ABHD5 |
| 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 |
| Abstract : Lord_2012_Adipocyte_1_123 |
| ESTHER : Lord_2012_Adipocyte_1_123 |
| PubMedSearch : Lord_2012_Adipocyte_1_123 |
| 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 |
| Abstract : Israeli_2012_Clin.Exp.Dermatol_37_31 |
| ESTHER : Israeli_2012_Clin.Exp.Dermatol_37_31 |
| PubMedSearch : Israeli_2012_Clin.Exp.Dermatol_37_31 |
| PubMedID: 21981352 |
| 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 |
| Abstract : Oberer_2011_Curr.Opin.Lipidol_22_149 |
| ESTHER : Oberer_2011_Curr.Opin.Lipidol_22_149 |
| PubMedSearch : Oberer_2011_Curr.Opin.Lipidol_22_149 |
| 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 |
| Abstract : Cornaciu_2011_PLoS.One_6_e26349 |
| ESTHER : Cornaciu_2011_PLoS.One_6_e26349 |
| PubMedSearch : Cornaciu_2011_PLoS.One_6_e26349 |
| 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 |
| Abstract : Gandotra_2011_J.Biol.Chem_286_34998 |
| ESTHER : Gandotra_2011_J.Biol.Chem_286_34998 |
| PubMedSearch : Gandotra_2011_J.Biol.Chem_286_34998 |
| 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 |
| Abstract : Samuelov_2011_Br.J.Dermatol_164_1390 |
| ESTHER : Samuelov_2011_Br.J.Dermatol_164_1390 |
| PubMedSearch : Samuelov_2011_Br.J.Dermatol_164_1390 |
| PubMedID: 21332462 |
| 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 |
| Abstract : Cakir_2010_Acta.Paediatr_99_1592 |
| ESTHER : Cakir_2010_Acta.Paediatr_99_1592 |
| PubMedSearch : Cakir_2010_Acta.Paediatr_99_1592 |
| PubMedID: 20528790 |
| 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 |
| Abstract : Redaelli_2010_Orphanet.J.Rare.Dis_5_33 |
| ESTHER : Redaelli_2010_Orphanet.J.Rare.Dis_5_33 |
| PubMedSearch : Redaelli_2010_Orphanet.J.Rare.Dis_5_33 |
| PubMedID: 21122093 |
| 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 |
| Abstract : Brown_2010_J.Lipid.Res_51_3306 |
| ESTHER : Brown_2010_J.Lipid.Res_51_3306 |
| PubMedSearch : Brown_2010_J.Lipid.Res_51_3306 |
| 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 |
| Abstract : Takeda_2010_Transplant.Proc_42_3858 |
| ESTHER : Takeda_2010_Transplant.Proc_42_3858 |
| PubMedSearch : Takeda_2010_Transplant.Proc_42_3858 |
| 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 |
| Abstract : Yamaguchi_2009_Biochim.Biophys.Acta_1791_519 |
| ESTHER : Yamaguchi_2009_Biochim.Biophys.Acta_1791_519 |
| PubMedSearch : Yamaguchi_2009_Biochim.Biophys.Acta_1791_519 |
| 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 |
| Abstract : Schweiger_2009_Am.J.Physiol.Endocrinol.Metab_297_E289 |
| ESTHER : Schweiger_2009_Am.J.Physiol.Endocrinol.Metab_297_E289 |
| PubMedSearch : Schweiger_2009_Am.J.Physiol.Endocrinol.Metab_297_E289 |
| PubMedID: 19401457 |
| 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 |
| Abstract : Bruno_2008_Biochem.Biophys.Res.Commun_369_1125 |
| ESTHER : Bruno_2008_Biochem.Biophys.Res.Commun_369_1125 |
| PubMedSearch : Bruno_2008_Biochem.Biophys.Res.Commun_369_1125 |
| PubMedID: 18339307 |
| 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 : 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 |
| Abstract : Gaeta_2008_Skeletal.Radiol_37_1053 |
| ESTHER : Gaeta_2008_Skeletal.Radiol_37_1053 |
| PubMedSearch : Gaeta_2008_Skeletal.Radiol_37_1053 |
| PubMedID: 18682927 |
| 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 |
| Abstract : Ghosh_2008_J.Biol.Chem_283_24525 |
| ESTHER : Ghosh_2008_J.Biol.Chem_283_24525 |
| PubMedSearch : Ghosh_2008_J.Biol.Chem_283_24525 |
| PubMedID: 18606822 |
| 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 |
| Abstract : Ronchetti_2008_J.Hepatol_49_474 |
| ESTHER : Ronchetti_2008_J.Hepatol_49_474 |
| PubMedSearch : Ronchetti_2008_J.Hepatol_49_474 |
| PubMedID: 18644654 |
| 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 : 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 |
| Abstract : Lass_2006_Cell.Metab_3_309 |
| ESTHER : Lass_2006_Cell.Metab_3_309 |
| PubMedSearch : Lass_2006_Cell.Metab_3_309 |
| PubMedID: 16679289 |
| 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 : 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 |
| Abstract : Yen_2006_Cell.Metab_3_305 |
| ESTHER : Yen_2006_Cell.Metab_3_305 |
| PubMedSearch : Yen_2006_Cell.Metab_3_305 |
| PubMedID: 16679288 |
| 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 : 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 |
| Abstract : Pujol_2005_Br.J.Dermatol_153_838 |
| ESTHER : Pujol_2005_Br.J.Dermatol_153_838 |
| PubMedSearch : Pujol_2005_Br.J.Dermatol_153_838 |
| PubMedID: 16181472 |
| Gene_locus related to this paper: 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 : 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 |
| Abstract : Yamaguchi_2004_J.Biol.Chem_279_30490 |
| ESTHER : Yamaguchi_2004_J.Biol.Chem_279_30490 |
| PubMedSearch : Yamaguchi_2004_J.Biol.Chem_279_30490 |
| PubMedID: 15136565 |
| Gene_locus related to this paper: ratno-abhd5 , 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 |
| Abstract : Srinivasan_2004_J.Pediatr_144_662 |
| ESTHER : Srinivasan_2004_J.Pediatr_144_662 |
| PubMedSearch : Srinivasan_2004_J.Pediatr_144_662 |
| PubMedID: 15127008 |
| 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 |
| Abstract : Akiyama_2003_J.Invest.Dermatol_121_1029 |
| ESTHER : Akiyama_2003_J.Invest.Dermatol_121_1029 |
| PubMedSearch : Akiyama_2003_J.Invest.Dermatol_121_1029 |
| 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 |
| Abstract : Lefevre_2001_Am.J.Hum.Genet_69_1002 |
| ESTHER : Lefevre_2001_Am.J.Hum.Genet_69_1002 |
| PubMedSearch : Lefevre_2001_Am.J.Hum.Genet_69_1002 |
| 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 |
| Abstract : Lai_2000_Genome.Res_10_703 |
| ESTHER : Lai_2000_Genome.Res_10_703 |
| PubMedSearch : Lai_2000_Genome.Res_10_703 |
| PubMedID: 10810093 |
| Gene_locus related to this paper: human-ABHD5 , human-ABHD17B |