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A requirement for Gch1 and tetrahydrobiopterin in embryonic development.

Abstract:

INTRODUCTION: GTP cyclohydrolase I (GTPCH) catalyses the first and rate-limiting reaction in the synthesis of the enzymatic cofactor, tetrahydrobiopterin (BH4). Loss of function mutations in the GCH1 gene lead to congenital neurological diseases such as DOPA-responsive dystonia and hyperphenylalaninemia. However, little is known about how GTPCH and BH4 affects embryonic development in utero, and in particular whether metabolic replacement or supplementation in pregnancy is sufficient to rescu...

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

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Publisher copy:
10.1016/j.ydbio.2014.12.025

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Institution:
University of Oxford
Department:
Oxford, MSD, RDM, Cardiovascular Medicine
Role:
Author
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Institution:
University of Oxford
Department:
Oxford, MSD, RDM, Cardiovascular Medicine
Role:
Author
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Institution:
University of Oxford
Department:
Oxford, MSD, RDM, Cardiovascular Medicine
Role:
Author
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Institution:
University of Oxford
Department:
Oxford, MSD, RDM, Physiology Anatomy and Genetics
Role:
Author
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Oxford NIHR Biomedical Research Centre More from this funder
Publisher:
Elsevier Publisher's website
Journal:
Developmental biology Journal website
Volume:
399
Issue:
1
Pages:
129-138
Publication date:
2015-03-05
DOI:
EISSN:
1095-564X
ISSN:
0012-1606
URN:
uuid:fd150f19-f1c5-4588-bf36-25acf20fb804
Source identifiers:
503201
Local pid:
pubs:503201
Language:
English
Keywords:

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