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Neuropharmacology. 2014 Jan;76 Pt C:729-36. doi: 10.1016/j.neuropharm.2013.05.018. Epub 2013 May 29.

BDNF in fragile X syndrome.

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Institute of Biomedicine/Physiology, University of Helsinki, P.O. Box 63, FIN-00014 Helsinki, Finland; Rinnekoti Foundation, Rinnekodintie 10, FIN-02980 Espoo, Finland. Electronic address:


Fragile X syndrome (FXS) is a monogenic disorder that is caused by the absence of FMR1 protein (FMRP). FXS serves as an excellent model disorder for studies investigating disturbed molecular mechanisms and synapse function underlying cognitive impairment, autism, and behavioral disturbance. Abnormalities in dendritic spines and synaptic transmission in the brain of FXS individuals and mouse models for FXS indicate perturbations in the development, maintenance, and plasticity of neuronal network connectivity. However, numerous alterations are found during the early development in FXS, including abnormal differentiation of neural progenitors and impaired migration of newly born neurons. Several aspects of FMRP function are modulated by brain-derived neurotrophic factor (BDNF) signaling. Here, we review the evidence of the role for BDNF in the developing and adult FXS brain. This article is part of the Special Issue entitled 'BDNF Regulation of Synaptic Structure, Function, and Plasticity'.


2-methyl-6-(phenylethynyl)pyridine hydrochloride; ADHD; Autism; BDNF; Brain-derived neurotrophic factor; CYFIP1; Circuit function; Differentiation; FMR1 gene; FMR1 protein; FMRP; FMRP-interacting protein; FXS; FXTAS; Fmr1 KO; Fmr1 gene; Fragile X syndrome; GABA; IP; LTD; LTP; MPEP; Mental retardation; N-methyl-d-aspartate receptor; NMDA; NPC; Neural progenitors; RNA interference; RNAi; TrkB receptor; aNPCs; adult neural progenitor cells; attention deficit and/or hyperactive disorder; fragile X mental retardation 1 gene; fragile X mental retardation 1 knockout; gamma-aminobutyric acid; gp1; group 1; intermediate progenitor; long-term depression; long-term potentiation; mGluR; metabotropic glutamate receptor; neural progenitor cells; tremor/ataxia syndrome; tropomyosin-related kinase B receptor

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