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Literature DB >> 11251597

Dorfman--Chanarin syndrome (neutral lipid storage disease): new clinical features.

C Peña-Penabad, M Almagro, W Martínez, J García-Silva, J Del Pozo, M T Yebra, C Sánchez-Manzano, E Fonseca.

Abstract

Entities: Disease

Mesh：

Substances：
Triglycerides

Year: 2001 PMID： 11251597 DOI： 10.1046/j.1365-2133.2001.04051.x

Source DB: PubMed Journal: Br J Dermatol ISSN： 0007-0963 Impact factor: 9.302

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Cited

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7 in total

Review 1. Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases.

Authors: Harjot K Saini-Chohan; Ryan W Mitchell; Frédéric M Vaz; Teresa Zelinski; Grant M Hatch
Journal: J Lipid Res Date: 2011-11-07 Impact factor: 5.922

2. ABHD5/CGI-58 facilitates the assembly and secretion of apolipoprotein B lipoproteins by McA RH7777 rat hepatoma cells.

Authors: Jorge M Caviglia; Janet D Sparks; Nikhil Toraskar; Anita M Brinker; Terry C Yin; Joseph L Dixon; Dawn L Brasaemle
Journal: Biochim Biophys Acta Date: 2009-01-13

3. Adipose-selective overexpression of ABHD5/CGI-58 does not increase lipolysis or protect against diet-induced obesity.

Authors: Jorge M Caviglia; Jenna L Betters; Dianne-Helerie Dapito; Caleb C Lord; Sean Sullivan; Streamson Chua; Terry Yin; Anna Sekowski; Haiyan Mu; Lawrence Shapiro; J Mark Brown; Dawn L Brasaemle
Journal: J Lipid Res Date: 2011-08-31 Impact factor: 5.922

4. Dorfman-Chanarin Syndrome: A Rare Cause of Metabolic Associated Fatty Liver Disease Related to Homozygosity of the Nonsense Mutation c.934C>T (p.R312*).

Authors: Rita Quelhas da Costa; Francisco Laranjeira; Isaura Duarte Ribeiro; António Filipe Santos; Filipe Nery
Journal: GE Port J Gastroenterol Date: 2021-07-07

Dorfman--Chanarin syndrome (neutral lipid storage disease): new clinical features.

Review 1. Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases.

2. ABHD5/CGI-58 facilitates the assembly and secretion of apolipoprotein B lipoproteins by McA RH7777 rat hepatoma cells.

3. Adipose-selective overexpression of ABHD5/CGI-58 does not increase lipolysis or protect against diet-induced obesity.

4. Dorfman-Chanarin Syndrome: A Rare Cause of Metabolic Associated Fatty Liver Disease Related to Homozygosity of the Nonsense Mutation c.934C>T (p.R312*).

5. Distinct mechanisms regulate ATGL-mediated adipocyte lipolysis by lipid droplet coat proteins.

6. CGI-58 is an alpha/beta-hydrolase within lipid transporting lamellar granules of differentiated keratinocytes.

7. Chanarin-dorfman syndrome with multi-system involvement in two siblings.