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Journal article

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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Publication status:
Published

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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:
Journal of inherited metabolic disease
Volume:
34
Issue:
3
Pages:
671-676
Publication date:
2011-06-01
DOI:
EISSN:
1573-2665
ISSN:
0141-8955
Source identifiers:
322025
Language:
English
Keywords:
Pubs id:
pubs:322025
UUID:
uuid:47e79f67-5a2a-4adb-b485-cc093d48c7cb
Local pid:
pubs:322025
Deposit date:
2012-12-19

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