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Article

Triosephosphate isomerase deficiency: a neurodegenerative misfolding disease.

Biochemical Society transactions - 1 Apr 2002

Oláh Judit, Orosz Ferenc, Keserü György M, Kovári Zoltán, Kovács János, Hollán Susan, Ovádi Judit

Abstract excerpt

A number of neurodegenerative diseases are mediated by mutation-induced protein misfolding. The resulting genetic defects, however, are expressed in varying phenotypes. Of the several well-established glycolytic enzyme deficiencies, triosephosphate isomerase (TPI) deficiency is the only one in which haemolytic anaemia is coupled with progressive, severe neurological disorder. In a Hungarian family with severe...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 12023819
DOI: 10.1042/

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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