The p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy.

Vadrot, Nathalie

The p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy. [electronic resource] - Human molecular genetics Apr 2015 - 2096-109 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1460-2083

10.1093/hmg/ddu728 doi


Adult
Amino Acid Substitution
Female
Humans
Lamin Type A--genetics
Lipodystrophy, Familial Partial--genetics
Male
Middle Aged
Mutation, Missense
Protein Binding
Sterol Regulatory Element Binding Protein 1--genetics
Young Adult