Patsy Tomlinson
University of Cambridge
3 Papers
Patsy Tomlinson is an academic researcher from University of Cambridge. The author has contributed to research in topics: Insulin resistance & Insulin receptor. The author has an hindex of 2, co-authored 3 publications. Previous affiliations of Patsy Tomlinson include National Institute for Health Research.
Chat about Author
Papers
Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations
Isabel Huang-Doran,Patsy Tomlinson,Patsy Tomlinson,Felicity Payne,Alexandra Gast,Alexandra Gast,Alison Sleigh,William Bottomley,Julie Harris,Julie Harris,Allan Daly,Nuno Rocha,Nuno Rocha,Simon A. Rudge,Jonathan Clark,Albert Kwok,Albert Kwok,Stefano Romeo,Emma McCann,Barbara Müksch,Mehul T. Dattani,Stefano Zucchini,Michael J.O. Wakelam,Lazaros C. Foukas,David B. Savage,David B. Savage,Rinki Murphy,Stephen O'Rahilly,Stephen O'Rahilly,Inês Barroso,Inês Barroso,Inês Barroso,Robert K. Semple,Robert K. Semple +33 more
TL;DR: PIK3R1 C-terminal mutations impair insulin signaling only in some cellular contexts and produce a subphenotype of insulin resistance resembling INSR dysfunction but unlike AKT2 dysfunction, implicating PI3K in the pathogenesis of key components of the metabolic syndrome.
Truncation of Pik3r1 causes severe insulin resistance uncoupled from obesity and dyslipidaemia by increased energy expenditure
Albert Kwok,Ilona Zvetkova,Samuel Virtue,Ineke Luijten,Isabel Huang-Doran,Patsy Tomlinson,David A Bulger,James A. West,Steven A. Murfitt,Julian L. Griffin,Rafeah Alam,Daniel Hart,Rachel G. Knox,Peter J. Voshol,Antonio Vidal-Puig,Jørgen Arendt Jensen,Stephen O'Rahilly,Robert K. Semple,Robert K. Semple,Robert K. Semple +19 more
TL;DR: Pik3r1 dysfunction in mice phenocopies the IR and reduced adiposity may not reflect bona fide lipodystrophy, but rather, increased energy expenditure, and it is suggested that further study of brown adipose tissue in both humans and mice is warranted.
21
C-terminal truncation of Pik3r1 in mice models human lipodystrophic insulin resistance uncoupled from dyslipidemia
Albert Kwok,Albert Kwok,Ilona Zvetkova,Ilona Zvetkova,Sam Virtue,Sam Virtue,Sam Virtue,Isabel Huang-Doran,Isabel Huang-Doran,Patsy Tomlinson,Patsy Tomlinson,David A Bulger,David A Bulger,Daniel Hart,Daniel Hart,Rachel G. Knox,Rachel G. Knox,Stephen Franks,Peter J. Voshol,Antonio Vidal-Puig,Antonio Vidal-Puig,Antonio Vidal-Puig,Amanda N. Sferruzzi-Perri,Jørgen Arendt Jensen,Stephen O'Rahilly,Stephen O'Rahilly,Stephen O'Rahilly,Robert K. Semple,Robert K. Semple +28 more
TL;DR: A novel mouse model of SHORT syndrome made by knock in of the Pik3r1 Y657X mutation is described, and a model of lipodystrophic insulin resistance dissociated from dyslipidemia as seen in SH short syndrome is established.
2