Ontology highlight
ABSTRACT:
SUBMITTER: Sonoyama T
PROVIDER: S-EPMC7270116 | biostudies-literature | 2020 Jun
REPOSITORIES: biostudies-literature
Sonoyama Takuhiro T Stadler Lukas K J LKJ Zhu Mingyan M Keogh Julia M JM Henning Elana E Hisama Fuki F Kirwan Peter P Jura Magdalena M Blaszczyk Beata K BK DeWitt David C DC Brouwers Bas B Hyvönen Marko M Barroso Inês I Merkle Florian T FT Appleyard Suzanne M SM Wayman Gary A GA Farooqi I Sadaf IS
Scientific reports 20200603 1
Brain-derived neurotrophic factor (BDNF) signals through its high affinity receptor Tropomyosin receptor kinase-B (TrkB) to regulate neuronal development, synapse formation and plasticity. In rodents, genetic disruption of Bdnf and TrkB leads to weight gain and a spectrum of neurobehavioural phenotypes. Here, we functionally characterised a de novo missense variant in BDNF and seven rare variants in TrkB identified in a large cohort of people with severe, childhood-onset obesity. In cells, the E ...[more]