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
Structural and functional insights into ABHD5, a ligand-regulated lipase co-activator.
Tseng YY et al.
Scientific Reports, 2022
Case Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation Analysis.
Liang B et al.
Frontiers in Genetics, 2022
35419035 (PubMed )
Supplement: Table1.xlsx › Sheet1
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
34440338 (PubMed )
Supplement: genes-12-01164-s001.zip › genes-1303691-supplementary.pdf
CGI-58: Versatile Regulator of Intracellular Lipid Droplet Homeostasis.
Yu L et al.
Advances in Experimental Medicine and Biology, 2020
A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings.
Eskiocak AH et al.
Lipids in Health and Disease, 2019
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