Triosephosphate isomerase deficiency: consequences of an inherited mutation at mRNA, protein and metabolic levels

Triosephosphate isomerase (TPI) deficiency is a unique glycolytic enzymopathy coupled with neurodegeneration. Two Hungarian compound heterozygote brothers inherited the same TPI mutations (F240L and E145Stop), but only the younger one suffers from neurodegeneration. In the present study, we determin...

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Detalhes bibliográficos
Main Authors: Oláh, Judit, Orosz, Ferenc, Puskás, László G., Hackler, Jr, László, Horányi, Margit, Polgár, László, Hollán, Susan, Ovádi, Judit
Formato: Artigo
Idioma:Inglês
Publicado em: Portland Press Ltd. 2005
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1316309/
https://ncbi.nlm.nih.gov/pubmed/16086671
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BJ20050993
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