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Structural basis of fumarate hydratase deficiency.

Abstract:

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 encephalopathy, seizures and poor neurological outcome. Heterozygous mutations are associa...

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Publisher copy:
10.1007/s10545-011-9294-8

Authors


Kavanagh, KL More by this author
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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine, Structural Genomics Consortium
Muller-Knapp, S More by this author
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Journal:
J Inherit Metab Dis
Volume:
34
Issue:
3
Pages:
671-676
Publication date:
2011-06-05
DOI:
EISSN:
1573-2665
ISSN:
0141-8955
URN:
uuid:78441880-35dc-44fe-9094-88ee4f6b1437
Source identifiers:
166730
Local pid:
pubs:166730

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