Associated Papers
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
Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis.
Alaimo JT et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
CGI-58: Versatile Regulator of Intracellular Lipid Droplet Homeostasis.
Yu L et al.
Advances in Experimental Medicine and Biology, 2020
Clonal evolution in patients with chronic lymphocytic leukaemia developing resistance to BTK inhibition.
Burger JA et al.
Nature Communications, 2016
Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.
Diociaiuti A et al.
Orphanet Journal of Rare Diseases, 2016
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
CGI-58 is an alpha/beta-hydrolase within lipid transporting lamellar granules of differentiated keratinocytes.
Akiyama M et al.
The American Journal of Pathology, 2008
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
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
Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome.
Akiyama M et al.
The Journal of Investigative Dermatology, 2003