Gain-of-Function R225W Mutation in Human AMPKγ 3 Causing Increased Glycogen and Decreased Triglyceride in Skeletal Muscle
Sheila R. Costford, Nihan Kavaslar, Nadav Ahituv et al. · 2007
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Description
Sheila Costford, Nihan Kavaslar, Nadav Ahituv and colleagues studied a human gene change that boosts a key energy enzyme, in PLOS ONE in 2007. The enzyme, AMPK, watches over energy balance in cells and in the whole body. In muscle, switching it on guards against some effects of inactivity and poor diet.
The change they studied, called R225W, sits in the gamma 3 part of AMPK and makes it work harder. The title links it to more glycogen and less fat stored in skeletal muscle. Human cases like this are rare natural tests of what a drug target does. They show both the promise and the reach of AMPK in daily metabolism.
Catalog record
| CREATOR | Sheila R. Costford, Nihan Kavaslar, Nadav Ahituv et al. |
|---|---|
| YEAR | 2007 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 41 KB |
| LICENSE | Creative Commons Attribution License |
| RIGHTS | CC BY |
| SOURCE | PLOS ONE |
Source: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0000903