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Journal article

A partial loss-of-function variant in AKT2 is associated with reduced insulin-mediated glucose uptake in multiple insulin sensitive tissues: a genotype-based callback positron emission tomography study

Abstract:

Rare fully penetrant mutations in AKT2 are an established cause of monogenic disorders of glucose metabolism. Recently, a novel partial loss-of-function AKT2 coding variant (p.Pro50Thr) was identified that is nearly specific to Finns (frequency 1.1%), with the low-frequency allele associated with an increase in fasting plasma insulin level and risk of type 2 diabetes. The effects of p.Pro50Thr on insulin-stimulated glucose uptake (GU) in the whole body and in different tissues have not previo...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.2337/db17-1142

Authors


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Grant:
NIH/NHLBI 5K01DK107836
R01DK093757
CRR00070 CR00.01
R01DK072193
U01DK062370
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Grant:
200837/Z/16/Z
095101/Z/10/Z
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Grant:
Biomedical Research Centre in Oxford
Li Ka Shing Foundation More from this funder
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Publisher:
American Diabetes Association Publisher's website
Journal:
Diabetes Journal website
Volume:
67
Issue:
2
Pages:
334-342
Publication date:
2017-11-15
Acceptance date:
2017-11-07
DOI:
EISSN:
1939-327X
ISSN:
0012-1797
Pmid:
29141982
Source identifiers:
800481
Language:
English
Keywords:
Pubs id:
pubs:800481
UUID:
uuid:61b094e8-ea2b-40d9-9db6-85750bef162c
Local pid:
pubs:800481
Deposit date:
2017-11-30

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