Imperial College London
Alternate

Dr Tony Goldstone

Faculty of Medicine, Department of Brain Sciences

Reader in PsychoNeuroEndocrinology
 
 
 
//

Contact

 

+44 (0)20 7594 5989tony.goldstone Website

 
 
//

Location

 

S25Commonwealth BuildingHammersmith Campus

//

Summary

 

Publications

Citation

BibTex format

@article{Alsters:2015:10.1371/journal.pone.0131417,
author = {Alsters, SIM and Goldstone, AP and Buxton, JL and Zekavati, A and sosinsky, A and Yiorkas, AM and Holder, S and Klaber, RE and Bridges, N and Haelst, MM and le, roux CW and Walley, AJ and Walters, RG and Mueller, M and Blakemore, AIF},
doi = {10.1371/journal.pone.0131417},
journal = {PLOS One},
title = {Truncating homozygous mutation of carboxypeptidase E (CPE) in a morbidly obese female with type 2 diabetes mellitus, intellectual disability and hypogonadotrophic hypogonadism},
url = {http://dx.doi.org/10.1371/journal.pone.0131417},
volume = {10},
year = {2015}
}
Download

RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Carboxypeptidase E is a peptide processing enzyme, involved in cleaving numerous peptide precursors, including neuropeptides and hormones involved in appetite control and glucose metabolism. Exome sequencing of a morbidly obese female from a consanguineous family revealed homozygosity for a truncating mutation of the CPE gene (c.76_98del; p.E26RfsX68). Analysis detected no CPE expression in whole blood-derived RNA from the proband, consistent with nonsense-mediated decay. The morbid obesity, intellectual disability, abnormal glucose homeostasis and hypogonadotrophic hypogonadism seen in this individual recapitulates phenotypes in the previously described fat/fat and Cpe knockout mouse models, evidencing the importance of this peptide/hormone-processing enzyme in regulating body weight, metabolism, and brain and reproductive function in humans.
AU  - Alsters,SIM
AU  - Goldstone,AP
AU  - Buxton,JL
AU  - Zekavati,A
AU  - sosinsky,A
AU  - Yiorkas,AM
AU  - Holder,S
AU  - Klaber,RE
AU  - Bridges,N
AU  - Haelst,MM
AU  - le,roux CW
AU  - Walley,AJ
AU  - Walters,RG
AU  - Mueller,M
AU  - Blakemore,AIF
DO  - 10.1371/journal.pone.0131417
PY  - 2015///
SN  - 1932-6203
TI  - Truncating homozygous mutation of carboxypeptidase E (CPE) in a morbidly obese female with type 2 diabetes mellitus, intellectual disability and hypogonadotrophic hypogonadism
T2  - PLOS One
UR  - http://dx.doi.org/10.1371/journal.pone.0131417
UR  - http://hdl.handle.net/10044/1/23871
VL  - 10
ER  -
Download