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Article

Structural basis of fumarate hydratase deficiency.

Journal of inherited metabolic disease - 1 Jun 2011

Picaud Sarah, Kavanagh Kathryn L, Yue Wyatt W, Lee Wen Hwa, Muller-Knapp Susanne, Gileadi Opher, Sacchettini James, Oppermann Udo

Abstract excerpt

Fumarate hydratase catalyzes the stereospecific hydration across the olefinic double bond in fumarate leading to L-malate. The enzyme is expressed in mitochondrial and cytosolic compartments, and participates in the Krebs cycle in mitochondria, as well as in regulation of cytosolic fumarate levels. Fumarate hydratase deficiency is an autosomal recessive trait presenting as metabolic disorder with severe...

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Identifiers

PMID: 21445611
DOI: 10.1007/s10545-011-9294-8
PMCID: PMC3109261

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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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