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

Autosomal recessive cutis laxa type 3A is caused by mutations in ALDH18A1, a gene encoding the mitochondrial enzyme Δ(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 litera...

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Autores principales: Handley, Mark T, Mégarbané, André, Meynert, Alison M, Brown, Stephen, Freyer, Elisabeth, Taylor, Martin S, Jackson, Ian J, Aligianis, Irene A
Formato: Artigo
Lenguaje:Inglês
Publicado: BlackWell Publishing Ltd 2014
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Original Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4113272/
https://ncbi.nlm.nih.gov/pubmed/25077174
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.70
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