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Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR

Abstract:

Mutations in GFPT1 underlie a congenital myasthenic syndrome (CMS) characterized by a limb-girdle pattern of muscle weakness. Glutamine-fructose-6-phosphate transaminase 1 (GFPT1) is a key rate-limiting enzyme in the hexosamine biosynthetic pathway providing building blocks for the glycosylation of proteins and lipids. It is expressed ubiquitously and it is not readily apparent why mutations in this gene should cause a syndrome with symptoms restricted to musc...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1093/hmg/ddt145

Authors


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Role:
Author
ORCID:
0000-0001-5853-3465
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Clinical Neurosciences
Role:
Author
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Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Role:
Author
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Name:
Medical Research Council
Grant:
G0701521
G1002274
MR/K000608/1
G10022
MR/K000608/1B
98482
Publisher:
Oxford University Press
Journal:
Human Molecular Genetics More from this journal
Volume:
22
Issue:
14
Pages:
2905-2913
Publication date:
2013-04-08
Acceptance date:
2013-03-28
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
Pmid:
23569079
Language:
English
Keywords:
Pubs id:
pubs:395029
UUID:
uuid:1c9e72ce-764f-4811-94d5-76fac1e30d58
Local pid:
pubs:395029
Source identifiers:
395029
Deposit date:
2018-01-10

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