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Journal article

Role of protein structure in variant annotation: structural insight of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency

Abstract:

Genetic defects on 6-pyruvoyl-tetrahydropterin synthase (PTPS) are the most prevalent cause of hyperphenylalaninaemia not due to phenylalanine hydrolyase deficiency (phenylketonuria). PTPS catalyses the second step of tetrahydrobiopterin (BH 4 ) cofactor biosynthesis, and its deficiency represents the most common form of BH 4 deficiency. Untreated PTPS deficiency results in depletion of the neurotransmitters dopamine, catecholamine and serotonin causing neurological symptoms. We archived repo...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1016/j.pathol.2018.11.011

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Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Structural Genomics Consortium
Role:
Author
Publisher:
Elsevier
Journal:
Pathology More from this journal
Volume:
51
Issue:
3
Pages:
274-280
Publication date:
2019-03-08
Acceptance date:
2018-11-19
DOI:
EISSN:
1465-3931
ISSN:
0031-3025
Language:
English
Keywords:
Pubs id:
pubs:981421
UUID:
uuid:b83790dd-ef19-45b2-ad74-e91f6ee6dca1
Local pid:
pubs:981421
Source identifiers:
981421
Deposit date:
2019-03-13

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