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
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
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
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
Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase.
Yamaguchi T et al.
Biochimica Et Biophysica Acta, 2009
Cerebral cavernomas in a family with multiple cutaneous and uterine leiomyomas associated with a new mutation in the fumarate hydratase gene.
Campione E et al.
The Journal of Investigative Dermatology, 2007
A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome.
Ben Selma Z et al.
The Journal of Investigative Dermatology, 2007
Neuro-ichthyotic Syndromes: A Case Series.
Incecık F et al.
Journal of Pediatric Neurosciences, 0
Four cases of Chanarin-Dorfman syndrome presenting with different types of erythrokeratoderma.
Çetinarslan T et al.
Pediatric Dermatology, 0