Truncation of Pik3r1 causes severe insulin resistance uncoupled from obesity and dyslipidaemia by increased energy expenditure

by Albert Kwok, Ilona Zvetkova, Sam Virtue, Ineke Luijten, Isabel Huang-Doran, Patsy Tomlinson, David A. Bulger, James West, Steven Murfitt, Julian Griffin, Rafeah Alam, Daniel Hart, Rachel Knox, Peter Voshol, Antonio Vidal-Puig, Jørgen Jensen, Stephen O'Rahilly, Robert K. Semple
Published 2020-10-01

Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression

by Nuno Rocha, David A Bulger, Andrea Frontini, Hannah Titheradge, Sigrid Bjerge Gribsholt, Rachel Knox, Matthew Page, Julie Harris, Felicity Payne, Claire Adams, Alison Sleigh, John Crawford, Anette Prior Gjesing, Jette Bork-Jensen, Oluf Pedersen, Inês Barroso, Torben Hansen, Helen Cox, Mary Reilly, Alex Rossor, Rebecca J Brown, Simeon I Taylor, Duncan McHale, Martin Armstrong, Elif A Oral, Vladimir Saudek, Stephen O’Rahilly, Eamonn R Maher, Bjørn Richelsen, David B Savage, Robert K Semple
Published 2017-04-01