Journal article
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...
Expand abstract
- Publication status:
- Published
- Peer review status:
- Peer reviewed
Actions
Authors
Funding
+ Medical Research Council
More from this funder
Grant:
G0701521
G1002274
MR/K000608/1
G10022
MR/K000608/1B
98482
Bibliographic Details
- Publisher:
- Oxford University Press Publisher's website
- Journal:
- Human Molecular Genetics Journal website
- 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
Item Description
- 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
Terms of use
- Copyright holder:
- Zoltowska et al
- Copyright date:
- 2013
- Notes:
- © The Author 2013. Published by Oxford University Press. All rights reserved.
Metrics
If you are the owner of this record, you can report an update to it here: Report update to this record