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ABHD5 is a potential therapeutic target against metastatic castration-resistant prostate cancer.
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The results here report on three patients with mutations in the ichthyosis-related gene, ABHD5 involved in lipid metabolism, presenting with erythrokeratoderma.
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Study report that although ABHD5 plays a tumor suppressor role in colorectal cancer (CRC) development and progression, it unexpectedly blunts the sensitivity of CRC cells to fluorouracil via promoting RNASET2-mediated autophagic uracil yield.
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ABHD5 mutation is associated with Chanarin Dorfman Syndrome.
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Study results suggest that ABHD5 functions to retain triglyceride, the substrate of PNPLA1, in the endoplasmic reticulum, the site of acylceramide production, and to present TG to PNPLA1. These findings reveal the molecular mechanism by which ABHD5 mutations cause ichthyosis symptoms in Chanarin-Dorfman syndrome.
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novel homozygote deletion in exon 4 of ABHD5 causing Chanarin-Dorfman syndrome (CDS), a rare autosomal recessive metabolic disorder.
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our findings indicate that inhibition of both DGAT1 and ABHD5 using siRNA leads to reduction in prostate cancer cell growth.
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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.
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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.
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ABHD5 possesses a PNPLA2-independent function in regulating autophagy and tumorigenesis.
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These results indicate that HCV taps into the lipid droplet triglyceride reservoir usurping ABHD5 lipase cofactor function
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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.
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Authors show that rat ATGL, coactivated by rat CGI-58, efficiently hydrolyzes triglycerides and retinyl ester.
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novel ABHD5 truncating variant in a twenty nine month old female child, who presented with icthyosiform erythroderma.
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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.
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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.
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PLIN5 was significantly colocated with ATGL, mitochondria and CGI-58, indicating a close association between the key lipolytic effectors in resting skeletal muscle.
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-mediated phosphorylation of CGI-58 is required for dispersion of CGI-58 from perilipin 1A-coated lipid droplets
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Abhd5 expression falls substantially and correlates negatively with malignant features in human colorectal cancer.
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Findings indicate a molecular mechanisms by which lysophosphatidic acid acyltransferase CGI-58 regulates lipid homeostasis.