Synaptic vesicle dynamic changes in a model of fragile X

Broek J. A. C., Lin Z., de Gruiter H. M., van 't Spijker H., Haasdijk E. D., Cox D., ...More

MOLECULAR AUTISM, vol.7, 2016 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 7
  • Publication Date: 2016
  • Doi Number: 10.1186/s13229-016-0080-1
  • Journal Name: MOLECULAR AUTISM
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Keywords: Fragile X syndrome (FXS), Synaptic transmission, Mass spectrometry (MS), Quantitative live-cell imaging, Electron microscopy, MENTAL-RETARDATION PROTEIN, MOUSE MODEL, PROTEOMIC ANALYSIS, FMR1, AUTISM, CEREBELLUM, RELEASE, NEURONS, CELLS, CONNECTIVITY
  • Middle East Technical University Affiliated: No


Background: Fragile X syndrome (FXS) is a single-gene disorder that is the most common heritable cause of intellectual disability and the most frequent monogenic cause of autism spectrum disorders (ASD). FXS is caused by an expansion of trinucleotide repeats in the promoter region of the fragile X mental retardation gene (Fmr1). This leads to a lack of fragile X mental retardation protein (FMRP), which regulates translation of a wide range of messenger RNAs (mRNAs). The extent of expression level alterations of synaptic proteins affected by FMRP loss and their consequences on synaptic dynamics in FXS has not been fully investigated.