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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

Authors


Kavanagh, KL More by this author
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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine, Structural Genomics Consortium
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Journal:
Journal of inherited metabolic disease
Volume:
34
Issue:
3
Pages:
671-676
Publication date:
2011-06-05
DOI:
EISSN:
1573-2665
ISSN:
0141-8955
URN:
uuid:47e79f67-5a2a-4adb-b485-cc093d48c7cb
Source identifiers:
322025
Local pid:
pubs:322025

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