David A Bulger
University of Cambridge
7 Papers
12 Citations
David A Bulger is an academic researcher from University of Cambridge. The author has contributed to research in topics: Adipose tissue & Insulin receptor. The author has an hindex of 3, co-authored 5 publications. Previous affiliations of David A Bulger include National Institutes of Health & National Institute for Health Research.
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Papers
Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
Nuno Rocha,Nuno Rocha,David A Bulger,David A Bulger,David A Bulger,Andrea Frontini,Hannah Titheradge,Sigrid Bjerge Gribsholt,Rachel G. Knox,Rachel G. Knox,Matthew Page,Julie Harris,Julie Harris,Felicity Payne,Claire Adams,Claire Adams,Alison Sleigh,Alison Sleigh,John Crawford,Anette P. Gjesing,Jette Bork-Jensen,Oluf Pedersen,Inês Barroso,Torben Hansen,Helen Cox,Mary M. Reilly,Alexander M. Rossor,Rebecca J. Brown,Simeon I. Taylor,Duncan McHale,Martin Armstrong,Elif A. Oral,Vladimir Saudek,Vladimir Saudek,Stephen O'Rahilly,Stephen O'Rahilly,Eamonn R. Maher,Eamonn R. Maher,Bjørn Richelsen,David B. Savage,David B. Savage,Robert K. Semple,Robert K. Semple +42 more
TL;DR: It is suggested that specific MFN2 mutations cause tissue-selective mitochondrial dysfunction with increased adipocyte proliferation and survival, confirm a novel form of excess adiposity with paradoxical suppression of leptin expression, and suggest potential targeted therapies.
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.
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Caenorhabditis elegans DAF-2 as a Model for Human Insulin Receptoropathies.
David A Bulger,David A Bulger,Tetsunari Fukushige,Sijung Yun,Robert K. Semple,John A. Hanover,Michael W. Krause +6 more
TL;DR: CRISPR-Cas9 genome editing was used to confirm the phenotypic consequence of six of these DAF-2 mutations and to replicate an allelic series of known human disease mutations in a highly conserved tyrosine kinase active site residue, demonstrating the utility of C. elegans for directly modeling human disease.
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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.
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Author response: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
Nuno Rocha,Nuno Rocha,David A Bulger,David A Bulger,David A Bulger,Andrea Frontini,Hannah Titheradge,Sigrid Bjerge Gribsholt,Rachel G. Knox,Rachel G. Knox,Matthew Page,Julie Harris,Julie Harris,Felicity Payne,Claire Adams,Claire Adams,Alison Sleigh,Alison Sleigh,John Crawford,Anette P. Gjesing,Jette Bork-Jensen,Oluf Pedersen,Inês Barroso,Torben Hansen,Helen Cox,Mary M. Reilly,Alexander M. Rossor,Rebecca J. Brown,Simeon I. Taylor,Duncan McHale,Martin Armstrong,Elif A. Oral,Vladimir Saudek,Vladimir Saudek,Stephen O'Rahilly,Stephen O'Rahilly,Eamonn R. Maher,Eamonn R. Maher,Bjørn Richelsen,David B. Savage,David B. Savage,Robert K. Semple,Robert K. Semple +42 more
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