ABHD5 Antibody

1. our findings indicate that inhibition of both DGAT1 and ABHD5 using siRNA leads to reduction in prostate cancer cell growth. PMID: 28877685
2. Prebinding CGI-58 with PI(3)P or PI(5)P did not alter its coactivation of ATGL in vitro. In summary, purified recombinant CGI-58 that is functional as an ATGL coactivator lacks LPAAT activity. PMID: 24879803
3. It is clear that CGI-58 can regulate TAG hydrolysis by activating the major TAG hydrolase adipose triglyceride lipase (ATGL), yet CGI-58 can also regulate lipid metabolism via mechanisms that do not involve ATGL. PMID: 28827091
4. ABHD5 possesses a PNPLA2-independent function in regulating autophagy and tumorigenesis. PMID: 27559856
5. These results indicate that HCV taps into the lipid droplet triglyceride reservoir usurping ABHD5 lipase cofactor function PMID: 27124600
6. Case Report: novel ABHD5 mutation, c.838C > T (p.Arg280*), in trans with p.Arg234* in a Chinese patient with very mild Dorfman-Chanarin syndrome. PMID: 26547112
7. Authors show that rat ATGL, coactivated by rat CGI-58, efficiently hydrolyzes triglycerides and retinyl ester. PMID: 26330055
8. novel ABHD5 truncating variant in a twenty nine month old female child, who presented with icthyosiform erythroderma. PMID: 26353074
9. simultaneous tryptophan alanine permutations in both arms abolish localization and activity of CGI-58 as opposed to tryptophan substitutions that occur in only one arm. PMID: 26350461
10. this study presents clinical and molecular data of four affected relatives with Chanarin-Dorfman syndrome homozygous for a N209X mutation in ABHD5, and provides a short review by comparing patients with N209X homozygous mutations to patients with other ABHD5 mutations. PMID: 25682902
11. PLIN5 was significantly colocated with ATGL, mitochondria and CGI-58, indicating a close association between the key lipolytic effectors in resting skeletal muscle. PMID: 25054327
12. -mediated phosphorylation of CGI-58 is required for dispersion of CGI-58 from perilipin 1A-coated lipid droplets PMID: 25421061
13. Abhd5 expression falls substantially and correlates negatively with malignant features in human colorectal cancer. PMID: 25482557
14. Findings indicate a molecular mechanisms by which lysophosphatidic acid acyltransferase CGI-58 regulates lipid homeostasis. PMID: 25315780
15. A report of two Chanarin-Dorfman syndrome sisters with severe steatohepatitis and decompensated cirrhosis due to steatohepatitis in whom the clinical presentation developed due to a new mutation in ABHD5 gene. PMID: 22245374
16. an important metabolic function of CGI-58 in skeletal muscle PMID: 22383684
17. A novel nonsense mutation of ABHD5 is reported in a consanguineous Afgani family with 4 sibs with Dorfman Chanarin syndrome; the mutation leads to protein truncation by 14 AAs; findings include liver cirrhosis, corneal opacities,tessellated fundus PMID: 22373837
18. the C terminus sequesters ABHD5 and thus inhibits basal ATGL activity PMID: 21757733
19. First report of large genomic deletions in the ABHD5 gene in Chanarin-Dorfman syndrome patients from Mediterranean countries. PMID: 21122093
20. analysis of novel mutations in the ABHD5 gene in Chanarin-Dorfman syndrome (CDS) patients PMID: 20307695
21. CGI-58 not only facilitates triglyceride lipolysis, but also provides fatty acid for esterification of ceremide leading to acylceremides PMID: 20520629
22. ABDH5 gene mutation is found in patients diagnosed with Chanarin Dorfman syndrome. PMID: 15967942
23. CGI-58 interacts with adipose triglyceride lipase, stimulating its TG hydrolase activity up to 20-fold PMID: 16679289
24. CGI-58 facilitates lipolysis in cooperation with perilipin and other factors, including lipases PMID: 17308334
25. analysis of a novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome [case report] PMID: 17495960
26. Deficient in lipid storage diseases. PMID: 17631826
27. These data enriches the list of CGI-58 mutations associated with Chanarin-Dorfman syndrome and confirms the clinical and allelic heterogeneity of this disease, especially the inconsistent muscle involvement. PMID: 18339307
28. CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid PMID: 18606822
29. CGI-58 is expressed and packaged into lamellar granules (LG) during keratinization and likely plays crucial role(s) in keratinocyte differentiation and LG lipid metabolism, contributing to skin lipid barrier formation. PMID: 18832586
30. Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase. (Review) PMID: 19061969
31. review summarizes recent findings with the goal of relating structural variants of ATGL and CGI-58 to functional consequences in lipid metabolism [review] PMID: 19401457
32. mutational analysis in Chanarin-Dorfman syndrome PMID: 11590543

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HGNC: 21396

OMIM: 275630

KEGG: hsa:51099

STRING: 9606.ENSP00000390849

UniGene: Hs.19385