The SR Protein SC35 Is Responsible for Aberrant Splicing of the E1α Pyruvate Dehydrogenase mRNA in a Case of Mental Retardation with Lactic Acidosis

Pyruvate dehydrogenase (PDH) complex deficiency is a major cause of lactic acidosis and Leigh's encephalomyelopathies in infancy and childhood, resulting in early death in the majority of patients. Most of the molecular defects have been localized in the coding regions of the E1α PDH gene. Rece...

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Bibliographic Details
Main Authors: Gabut, Mathieu, Miné, Manuèle, Marsac, Cécile, Brivet, Michèle, Tazi, Jamal, Soret, Johann
Format: Artigo
Language:Inglês
Published: American Society for Microbiology 2005
Subjects:
Gene Expression
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1069624/
https://ncbi.nlm.nih.gov/pubmed/15798212
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1128/MCB.25.8.3286-3294.2005
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