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
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Disruption of DNA methylation-dependent long gene repression in Rett syndrome
Harrison W. Gabel,Benyam Kinde,Hume Stroud,Caitlin S. Gilbert,David A. Harmin,Nathaniel R. Kastan,Martin Hemberg,Daniel H. Ebert,Michael E. Greenberg +8 more
TL;DR: A genome-wide length-dependent increase in gene expression is identified in MeCP2 mutant mouse models and human RTT brains, and it is found that long genes as a population are enriched for neuronal functions and selectively expressed in the brain.
Mutations causing syndromic autism define an axis of synaptic pathophysiology
TL;DR: In this article, the authors used electrophysiological and biochemical assays of neuronal protein synthesis in the hippocampus of Tsc2(+/-) and Fmr1(-/y) mice to show that synaptic dysfunction caused by these mutations actually falls at opposite ends of a physiological spectrum.
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A spectral approach integrating functional genomic annotations for coding and noncoding variants
TL;DR: Across varied scenarios, the Eigen score performs generally better than any single individual annotation, representing a powerful single functional score that can be incorporated in fine-mapping studies.
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Functional 5′ UTR mRNA structures in eukaryotic translation regulation and how to find them
TL;DR: This Review discusses known 5′ UTR RNA structures and how new structure probing technologies coupled with prospective validation, particularly compensatory mutagenesis, are likely to identify classes of structured RNA elements that shape post-transcriptional control of gene expression and the development of multicellular organisms.
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Molecular Mechanisms of Fragile X Syndrome: A Twenty-Year Perspective
TL;DR: Studies continue to refine the understanding of FMRP's role in synaptic plasticity and to uncover new functions of this protein, which have illuminated therapeutic approaches for FXS.
References
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TL;DR: In this paper, the authors present a model for the analysis of variance in a single-classification and two-way and multiway analysis of Variance with the assumption of correlation.
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