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
Two cases of Chanarin-Dorfman syndrome with novel and recurrent mutations in the ABHD5 gene.
Jiang X et al.
International Journal of Dermatology, 2021
CGI-58: Versatile Regulator of Intracellular Lipid Droplet Homeostasis.
Yu L et al.
Advances in Experimental Medicine and Biology, 2020
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1
Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome.
Takeichi T et al.
Journal of Dermatological Science, 2016
Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene.
Redaelli C et al.
Orphanet Journal of Rare Diseases, 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
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