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}
}
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 -
