Journal article icon

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...

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

Actions


Access Document


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

Authors


Expand authors...
Publisher:
Springer Netherlands Publisher's website
Journal:
Journal of Inherited Metabolic Disease Journal website
Volume:
34
Issue:
3
Pages:
671-676
Publication date:
2011-01-01
DOI:
EISSN:
1573-2665
ISSN:
0141-8955
URN:
uuid:15d69a1c-a8b1-4fa2-9e45-e254dc9c40f6
Local pid:
SGC:21445611
Language:
English

Terms of use


Metrics


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP