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

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...

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Detalles Bibliográficos
Autores principales: Kwok, Albert, Zvetkova, Ilona, Virtue, Sam, Luijten, Ineke, Huang-Doran, Isabel, Tomlinson, Patsy, Bulger, David A., West, James, Murfitt, Steven, Griffin, Julian, Alam, Rafeah, Hart, Daniel, Knox, Rachel, Voshol, Peter, Vidal-Puig, Antonio, Jensen, Jørgen, O'Rahilly, Stephen, Semple, Robert K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7385515/
https://www.ncbi.nlm.nih.gov/pubmed/32439336
http://dx.doi.org/10.1016/j.molmet.2020.101020

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