FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism
Jennifer C. Darnell,Sarah J. Van Driesche,Chaolin Zhang,Ka Ying Sharon Hung,Aldo Mele,Claire E. Fraser,Elizabeth F. Stone,Cynthia Chen,John J. Fak,Sung Wook Chi,Donny D. Licatalosi,Joel D. Richter,Robert B. Darnell,Robert B. Darnell +13 more
TLDR
A brain polyribosome-programmed translation system is developed, revealing that FMRP reversibly stalls ribosomes specifically on its target mRNAs and suggests multiple targets for clinical intervention in FXS and ASD.About:
This article is published in Cell.The article was published on 2011-07-22 and is currently open access. It has received 1861 citations till now. The article focuses on the topics: FMR1 & RNA-binding protein.read more
Citations
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Balancing Act: Maintaining Amino Acid Levels in the Autistic Brain
TL;DR: A recent study identifies a form of ASD resulting from a failure of the brain to properly import amino acids as a result of mutated genes in autism.
Journal ArticleDOI
Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.
Dheeraj Reddy Bobbili,Dennis Lal,Patrick May,Eva M. Reinthaler,Kamel Jabbari,Holger Thiele,Michael Nothnagel,Wiktor Jurkowski,Martha Feucht,Peter Nürnberg,Holger Lerche,Fritz Zimprich,Roland Krause,Bernd A. Neubauer,Hannelore Steinböck,Birgit Neophytou,Julia Geldner,Ursula Gruber-Sedlmayr,Edda Haberlandt,Gabriel M. Ronen,Janine Altmüller,Thomas Sander,Rudi Balling +22 more
TL;DR: An exome-wide significantly enriched burden for deleterious and loss-of-function variants only for the established RE/ARE gene GRIN2A is identified, and the statistical significance of the enrichment disappeared after removing ARE patients.
Journal ArticleDOI
Posttranscriptional Gene Regulation of the GABA Receptor to Control Neuronal Inhibition.
TL;DR: It is proposed that local (co)-translational control mechanism might control transmission of inhibitory synapses through known aspects of posttranscriptional regulation and protein dynamics of the GABA receptor (GABAR).
Journal ArticleDOI
ESCRT-III Membrane Trafficking Misregulation Contributes To Fragile X Syndrome Synaptic Defects.
Dominic J. Vita,Kendal Broadie +1 more
TL;DR: Genetic correction of Shrub levels in the FXS model prevents synaptic membrane trafficking defects and strongly restores innervation, revealing a new molecular mechanism underpinning theFXS disease state.
Journal ArticleDOI
Low Levels of HDL in Fragile X Syndrome Patients.
TL;DR: The mutation responsible for FXS is a large expansion of the CGG repeats in the promoter region of the FMR1 gene resulting in the transcriptional silencing of the gene in the pathophysiology of Fragile X syndrome was hypothesized.
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