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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

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Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Structural Genomics Consortium
Role:
Author
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Journal:
J Inherit Metab Dis
Volume:
34
Issue:
3
Pages:
671-676
Place of publication:
Netherlands
Publication date:
2011-06-01
DOI:
EISSN:
1573-2665
ISSN:
0141-8955
Source identifiers:
166730
Language:
English
Keywords:
Pubs id:
pubs:166730
UUID:
uuid:78441880-35dc-44fe-9094-88ee4f6b1437
Local pid:
pubs:166730
Deposit date:
2012-12-19

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