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Article

Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome.

The Journal of investigative dermatology - 1 Nov 2003

Akiyama Masashi, Sawamura Daisuke, Nomura Yuko, Sugawara Makoto, Shimizu Hiroshi

Abstract excerpt

Dorfman-Chanarin syndrome is a rare autosomal recessive inherited lipid storage disease characterized by ichthyosis, leukocyte lipid vacuoles, and involvement of several internal organs. Recently, CGI-58 mutations were identified as the cause of Dorfman-Chanarin syndrome. The physiologic roles of...

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Source

Identifiers

PMID: 14708602
DOI: 10.1046/j.1523-1747.2003.12520.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-14708602-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome.PMID 14708602Read ↗

Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome.Semantic proximity Read ↗

Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase.Semantic proximity Read ↗

CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid.Semantic proximity Read ↗

Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome.Semantic proximity Read ↗

CGI-58 interacts with perilipin and is localized to lipid droplets. Possible involvement of CGI-58 mislocalization in Chanarin-Dorfman syndrome.Semantic proximity Read ↗

Acitretin-responsive ichthyosis in Chanarin-Dorfman syndrome with a novel mutation in the ABHD5/CGI-58 gene.Semantic proximity Read ↗

Chanarin-Dorfman syndrome: a novel mutation in a Turkish girl.Semantic proximity Read ↗

Clinical and genetic characterization of Chanarin-Dorfman syndrome.Semantic proximity Read ↗

The position of single-base deletions in the VNTR sequence of the carboxyl ester lipase ( <i>CEL</i> ) gene determines pathogenicitySemantic proximity Read ↗

Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene.Semantic proximity Read ↗

A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome.Semantic proximity Read ↗

Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)-Deficient Canines.Semantic proximity Read ↗

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