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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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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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

Authors


Picaud, Sarah More by this author
Kavanagh, Kathryn L More by this author
Yue, Wyatt W More by this author
Lee, Wen Hwa More by this author
Muller-Knapp, Susanne More by this author
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Publisher:
Springer Netherlands Publisher's website
Journal:
Journal of Inherited Metabolic Disease Journal website
Volume:
34
Issue:
3
Pages:
671-676
Publication date:
2011
DOI:
EISSN:
1573-2665
ISSN:
0141-8955
URN:
uuid:15d69a1c-a8b1-4fa2-9e45-e254dc9c40f6
Local pid:
SGC:21445611
Language:
English

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