- The autism candidate gene Neurobeachin encodes a scaffolding protein implicated in membrane trafficking and signalingK Volders
Laboratory for Biochemical Neuroendocrinology, Department of Human Genetics, and Leuven Autism Research Consortium LAuRes, Katholieke Universiteit Leuven, Belgium
Curr Mol Med 11:204-17. 2011..In particular, it suggests that impaired functionality of LDCVs, which contain neurotrophins, neuropeptides and monoamines, might contribute to the pathogenesis of autism in at least a subgroup of patients...
- Mutations in the amino-terminal region of proopiomelanocortin (POMC) in patients with early-onset obesity impair POMC sorting to the regulated secretory pathwayJohn W M Creemers
University of Leuven, Center for Human Genetics, B 3000 Leuven, Belgium
J Clin Endocrinol Metab 93:4494-9. 2008..Mutations in the proopiomelanocortin (POMC) gene that impair the synthesis or structure of POMC-derived peptides predispose to human obesity...
- Heterozygous mutations causing partial prohormone convertase 1 deficiency contribute to human obesityJohn W M Creemers
Department of Human Genetics, University of Leuven, Leuven, Belgium
Diabetes 61:383-90. 2012..These results provide the first evidence of an increased risk of obesity in heterozygous carriers of mutations in the PCSK1 gene. Furthermore, mutations causing partial PCSK1 deficiency are present in 0.83% of extreme obesity phenotypes...
- PREPL, a prolyl endopeptidase-like enzyme by name only?--Lessons from patientsKurt Boonen
Laboratory for Biochemical Neuroendocrinology, Center for Human Genetics, University of Leuven, Belgium
CNS Neurol Disord Drug Targets 10:355-60. 2011..This raises the possibility that PREP and PREPL are homologous, not just by name but also by nature...