CGI-58/ABHD5 gene is mutated in Dorfman-Chanarin syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference11 articles.
1. Dorfman-Chanarin syndrome (neutral lipid storage disease). A case report
2. Neutral-lipid storage disease: a new disorder of lipid metabolism.
3. Dorfman-Chanarin syndrome in Egypt
4. The Turnover of Cytoplasmic Triacylglycerols in Human Fibroblasts Involves Two Separate Acyl Chain Length-dependent Degradation Pathways
5. Neutral lipid storage disease: a genetic disorder with abnormalities in the regulation of phospholipid metabolism
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1. Skin damage in a patient with lipid storage myopathy with a novel ETFDH mutation responsive to riboflavin;International Journal of Neuroscience;2020-03-09
2. Critical roles for α/β hydrolase domain 5 (ABHD5)/comparative gene identification-58 (CGI-58) at the lipid droplet interface and beyond;Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids;2017-10
3. Effects of abhydrolase domain containing 5 gene (ABHD5) expression and variations on chicken fat metabolism;Poultry Science;2016-01
4. Endogenous and Synthetic ABHD5 Ligands Regulate ABHD5-Perilipin Interactions and Lipolysis in Fat and Muscle;Cell Metabolism;2015-11
5. Living Donor Liver Transplantation for Dorfman-Chanarin Syndrome With 1 Year Follow-up: Case Report;Transplantation Proceedings;2010-11
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