Imperial College London
Professor Philippe Froguel

ProfessorPhilippeFroguel

Faculty of Medicine, Department of Metabolism, Digestion and Reproduction

Chair in Genomic Medicine
 
 
 
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Contact

 

+44 (0)20 7594 6520p.froguel

 
 
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Assistant

 

Mrs Patricia Murphy +44 (0)20 7594 1603

 
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Location

 

E306Burlington DanesHammersmith Campus

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Summary

 

Publications

Citation

BibTex format

@article{Leprêtre:2004:10.1002/humu.9256,
author = {Leprêtre, F and Vasseur, F and Vaxillaire, M and Scherer, PE and Ali, S and Linton, K and Aitman, T and Froguel, P},
doi = {10.1002/humu.9256},
journal = {Hum Mutat},
title = {A CD36 nonsense mutation associated with insulin resistance and familial type 2 diabetes.},
url = {http://dx.doi.org/10.1002/humu.9256},
volume = {24},
year = {2004}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Mutations in CD36 / fatty acid translocase (FAT) gene are responsible for insulin resistance in the rat but contribution to human Type 2 diabetes is unknown. A nominal evidence for linkage of familial T2D at the CD36 locus led us to identify a rare nonsense mutation c.1079T>G (p.L360X) in one Caucasian pedigree presenting with autosomal dominant diabetes. Adiponectin levels, as marker of insulin sensitivity, were found to be significantly lower in the p.L360X variant carriers compared to homozygous for wild type CD36. Furthermore, expression studies of the truncated protein showed a defective binding of acetylated-LDL. Thus, our findings suggest a possible role for CD36 in the pathogenesis of T2D associated with reduced insulin sensitivity.
AU  - Leprêtre,F
AU  - Vasseur,F
AU  - Vaxillaire,M
AU  - Scherer,PE
AU  - Ali,S
AU  - Linton,K
AU  - Aitman,T
AU  - Froguel,P
DO  - 10.1002/humu.9256
PY  - 2004///
TI  - A CD36 nonsense mutation associated with insulin resistance and familial type 2 diabetes.
T2  - Hum Mutat
UR  - http://dx.doi.org/10.1002/humu.9256
UR  - https://www.ncbi.nlm.nih.gov/pubmed/15221799
VL  - 24
ER  -
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