Literature DB >> 16500716

The fragile X-cerebellum connection.

Kimberly M Huber1.   

Abstract

Fragile X syndrome (FXS) is an inherited form of mental retardation that results from the loss of function of the fragile X mental retardation protein (FMRP). A recent report demonstrated alterations in the structure and plasticity of synapses on cerebellar Purkinje cells in Fmr1 knockout mice, which are a model of FXS. These synaptic alterations are associated with deficits in the cerebellar learning both in the mice and humans with FXS. This work forges an important link between the FMR1 gene, altered synaptic plasticity in the cerebellum and mental retardation.

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Year:  2006        PMID: 16500716     DOI: 10.1016/j.tins.2006.02.001

Source DB:  PubMed          Journal:  Trends Neurosci        ISSN: 0166-2236            Impact factor:   13.837


  20 in total

1.  Independent role for presynaptic FMRP revealed by an FMR1 missense mutation associated with intellectual disability and seizures.

Authors:  Leila K Myrick; Pan-Yue Deng; Hideharu Hashimoto; Young Mi Oh; Yongcheol Cho; Mickael J Poidevin; Joshua A Suhl; Jeannie Visootsak; Valeria Cavalli; Peng Jin; Xiaodong Cheng; Stephen T Warren; Vitaly A Klyachko
Journal:  Proc Natl Acad Sci U S A       Date:  2015-01-05       Impact factor: 11.205

2.  A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition.

Authors:  James Y Garbern; Manuela Neumann; John Q Trojanowski; Virginia M-Y Lee; Gerald Feldman; Joy W Norris; Michael J Friez; Charles E Schwartz; Roger Stevenson; Anders A F Sima
Journal:  Brain       Date:  2010-04-15       Impact factor: 13.501

3.  Effects of stimulus salience on touchscreen serial reversal learning in a mouse model of fragile X syndrome.

Authors:  Price E Dickson; Beau Corkill; Eric McKimm; Mellessa M Miller; Michele A Calton; Daniel Goldowitz; Charles D Blaha; Guy Mittleman
Journal:  Behav Brain Res       Date:  2013-06-04       Impact factor: 3.332

Review 4.  Therapeutic strategies in fragile X syndrome: dysregulated mGluR signaling and beyond.

Authors:  Christina Gross; Elizabeth M Berry-Kravis; Gary J Bassell
Journal:  Neuropsychopharmacology       Date:  2011-07-27       Impact factor: 7.853

Review 5.  The role of fragile X mental retardation protein in major mental disorders.

Authors:  S Hossein Fatemi; Timothy D Folsom
Journal:  Neuropharmacology       Date:  2010-11-22       Impact factor: 5.250

6.  Imitation in fragile X syndrome. Implications for autism.

Authors:  Marta Macedoni-Luksic; Laura Greiss-Hess; Sally J Rogers; David Gosar; Kerrie Lemons-Chitwood; Randi Hagerman
Journal:  Autism       Date:  2009-09-21

Review 7.  Cellular and circuit mechanisms underlying spinocerebellar ataxias.

Authors:  Pratap Meera; Stefan M Pulst; Thomas S Otis
Journal:  J Physiol       Date:  2016-06-12       Impact factor: 5.182

8.  Abnormal cerebellar cytoarchitecture and impaired inhibitory signaling in adult mice lacking TR4 orphan nuclear receptor.

Authors:  Yei-Tsung Chen; Loretta L Collins; Hideo Uno; Samuel M Chou; Charles K Meshul; Shu-Shi Chang; Chawnshang Chang
Journal:  Brain Res       Date:  2007-07-17       Impact factor: 3.252

9.  Delay eyeblink classical conditioning is impaired in Fragile X syndrome.

Authors:  Michael J Tobia; Diana S Woodruff-Pak
Journal:  Behav Neurosci       Date:  2009-06       Impact factor: 1.912

10.  Early childhood obesity is associated with compromised cerebellar development.

Authors:  Jennifer L Miller; Jessica Couch; Krista Schwenk; Michelle Long; Stephen Towler; Douglas W Theriaque; Guojun He; Yijun Liu; Daniel J Driscoll; Christiana M Leonard
Journal:  Dev Neuropsychol       Date:  2009       Impact factor: 2.253

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