Associated Papers
Defective targeting of PNPLA1 to lipid droplets causes ichthyosis in ABHD5-syndromic epidermal differentiation disorder.
Schratter M et al.
Journal of Lipid Research, 2025
ABHD5-A Regulator of Lipid Metabolism Essential for Diverse Cellular Functions.
Schratter M et al.
Metabolites, 2022
Structural and functional insights into ABHD5, a ligand-regulated lipase co-activator.
Tseng YY et al.
Scientific Reports, 2022
Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome.
Kopp J et al.
Genes, 2021
Two cases of Chanarin-Dorfman syndrome with novel and recurrent mutations in the ABHD5 gene.
Jiang X et al.
International Journal of Dermatology, 2021
Chanarin-Dorfman Syndrome: A comprehensive review.
Cakmak E et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2021
CGI-58: Versatile Regulator of Intracellular Lipid Droplet Homeostasis.
Yu L et al.
Advances in Experimental Medicine and Biology, 2020
ABHD5 stimulates PNPLA1-mediated ω-O-acylceramide biosynthesis essential for a functional skin permeability barrier.
Kien B et al.
Journal of Lipid Research, 2018
ABHD5/CGI-58, the Chanarin-Dorfman Syndrome Protein, Mobilises Lipid Stores for Hepatitis C Virus Production.
Vieyres G et al.
Plos Pathogens, 2016
Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome.
Takeichi T et al.
Journal of Dermatological Science, 2016
Identification of a novel splicing isoform of murine CGI-58.
Yang X et al.
Febs Letters, 2010
Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5.
Schweiger M et al.
American Journal of Physiology. Endocrinology and Metabolism, 2009
Adipose triglyceride lipase and the lipolytic catabolism of cellular fat stores.
Zechner R et al.
Journal of Lipid Research, 2009
CGI-58 interacts with perilipin and is localized to lipid droplets. Possible involvement of CGI-58 mislocalization in Chanarin-Dorfman syndrome.
Yamaguchi T et al.
The Journal of Biological Chemistry, 2004
Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome.
Lefèvre C et al.
American Journal of Human Genetics, 2001