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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Authors
Bibliographic Details
- 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
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:322025
- UUID:
-
uuid:47e79f67-5a2a-4adb-b485-cc093d48c7cb
- Local pid:
- pubs:322025
- Deposit date:
- 2012-12-19
Terms of use
- Copyright date:
- 2011
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