Journal article
Mutation of Fnip1 is associated with B-cell deficiency, cardiomyopathy, and elevated AMPK activity.
- Abstract:
-
Folliculin (FLCN) is a tumor-suppressor protein mutated in the Birt-Hogg-Dubé (BHD) syndrome, which associates with two paralogous proteins, folliculin-interacting protein (FNIP)1 and FNIP2, forming a complex that interacts with the AMP-activated protein kinase (AMPK). Although it is clear that this complex influences AMPK and other metabolic regulators, reports of its effects have been inconsistent. To address this issue, we created a recessive loss-of-function variant of Fnip1 Homozygous FN...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
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- Publisher copy:
- 10.1073/pnas.1607592113
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Authors
Funding
+ British Heart Foundation Centre of Research Excellence,
Oxford
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Funding agency for:
Watkins, H
+ British Heart Foundation Centre of Research Excellence,
Oxford
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Funding agency for:
Ashrafian, H
Bill and Melinda Gates Foundation
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Bibliographic Details
- Publisher:
- National Academy of Sciences Publisher's website
- Journal:
- Proceedings of the National Academy of Sciences of the United States of America Journal website
- Volume:
- 113
- Issue:
- 26
- Pages:
- E3706-E3715
- Publication date:
- 2016-01-01
- DOI:
- EISSN:
-
1091-6490
- ISSN:
-
0027-8424
- Source identifiers:
-
628303
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:628303
- UUID:
-
uuid:e398bf8e-18ec-4540-8c5f-e106d78d54cc
- Local pid:
- pubs:628303
- Deposit date:
- 2016-07-04
Terms of use
- Copyright holder:
- Siggs et al
- Copyright date:
- 2016
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