Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome

Abstract Autosomal recessive cutis laxa type 3A is caused by mutations in ALDH18A1, a gene encoding the mitochondrial enzyme ∆1‐pyrroline‐5‐carboxylate synthase (P5CS). It is a rare disorder with only six pathogenic mutations and 10 affected individuals from five families previously described in the...

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書誌詳細

出版年:	Molecular Genetics & Genomic Medicine
主要な著者:	Mark T. Handley, André Mégarbané, Alison M. Meynert, Stephen Brown, Elisabeth Freyer, Martin S. Taylor, Ian J. Jackson, Irene A. Aligianis
フォーマット:	論文
言語:	英語
出版事項:	Wiley 2014-07-01
主題:	ARCL3A cutis laxa lipid droplets Warburg Micro syndrome
オンライン･アクセス:	https://doi.org/10.1002/mgg3.70