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Article

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

The Biochemical journal - 15 Dec 2005

Oláh Judit, Orosz Ferenc, Puskás László G, Hackler László, Horányi Margit, Polgár László, Hollán Susan, Ovádi Judit

Abstract excerpt

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 determined the kinetic parameters of key glycolytic enzymes including the mutant TPI for rational modelling of erythrocyte...

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Identifiers

PMID: 16086671
DOI: 10.1042/BJ20050993
PMCID: PMC1316309

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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