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

• Prif Awduron: Albert Kwok (Awdur), Ilona Zvetkova (Awdur), Sam Virtue (Awdur), Ineke Luijten (Awdur), Isabel Huang-Doran (Awdur), Patsy Tomlinson (Awdur), David A. Bulger (Awdur), James West (Awdur), Steven Murfitt (Awdur), Julian Griffin (Awdur), Rafeah Alam (Awdur), Daniel Hart (Awdur), Rachel Knox (Awdur), Peter Voshol (Awdur), Antonio Vidal-Puig (Awdur), Jørgen Jensen (Awdur), Stephen O'Rahilly (Awdur), Robert K. Semple (Awdur)
• Fformat: Llyfr
• Cyhoeddwyd: Elsevier, 2020-10-01T00:00:00Z.
• Pynciau: article
• Mynediad Ar-lein: Connect to this object online.

Objective: Insulin signalling via phosphoinositide 3-kinase (PI3K) requires PIK3R1-encoded regulatory subunits. C-terminal PIK3R1 mutations cause SHORT syndrome, as well as lipodystrophy and insulin resistance (IR), surprisingly without fatty liver or metabolic dyslipidaemia. We sought to investigat...