J W M Creemers

Summary

Affiliation: Katholieke Universiteit Leuven
Country: Belgium

Publications

  1. ncbi The autism candidate gene Neurobeachin encodes a scaffolding protein implicated in membrane trafficking and signaling
    K 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
  2. ncbi Mutations in the amino-terminal region of proopiomelanocortin (POMC) in patients with early-onset obesity impair POMC sorting to the regulated secretory pathway
    John W M Creemers
    University of Leuven, Center for Human Genetics, B 3000 Leuven, Belgium
    J Clin Endocrinol Metab 93:4494-9. 2008
  3. ncbi Heterozygous mutations causing partial prohormone convertase 1 deficiency contribute to human obesity
    John W M Creemers
    Department of Human Genetics, University of Leuven, Leuven, Belgium
    Diabetes 61:383-90. 2012
  4. ncbi PREPL, a prolyl endopeptidase-like enzyme by name only?--Lessons from patients
    Kurt Boonen
    Laboratory for Biochemical Neuroendocrinology, Center for Human Genetics, University of Leuven, Belgium
    CNS Neurol Disord Drug Targets 10:355-60. 2011

Detail Information

Publications4

  1. ncbi The autism candidate gene Neurobeachin encodes a scaffolding protein implicated in membrane trafficking and signaling
    K 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...
  2. ncbi Mutations in the amino-terminal region of proopiomelanocortin (POMC) in patients with early-onset obesity impair POMC sorting to the regulated secretory pathway
    John 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...
  3. ncbi Heterozygous mutations causing partial prohormone convertase 1 deficiency contribute to human obesity
    John 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...
  4. ncbi PREPL, a prolyl endopeptidase-like enzyme by name only?--Lessons from patients
    Kurt 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...