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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Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families
Virpi Leppa,Virpi Leppa,Stephanie N Kravitz,Christa Lese Martin,Joris Andrieux,Cédric Le Caignec,Dominique Martin-Coignard,Christina T. DyBuncio,Stephen Sanders,Jennifer K. Lowe,Jennifer K. Lowe,Rita M. Cantor,Daniel H. Geschwind,Daniel H. Geschwind +13 more
TL;DR: A higher burden of large, rare CNVs, including inherited events, in individuals with ASD than in their unaffected siblings is observed, but the rate of de novo events was significantly lower than in simplex families.
Journal ArticleDOI
Genotype to phenotype relationships in autism spectrum disorders
Jonathan S. Chang,Sarah R Gilman,Andrew H. Chiang,Stephen Sanders,Stephen Sanders,Dennis Vitkup +5 more
TL;DR: In this paper, the authors find that ASD functional genetic networks are enriched for genes expressed in deep layer cortical neurons, that mutations in females impact more highly expressed genes as compared to males and that intellectual scores reflect the severity of mutations.
Journal ArticleDOI
Autism spectrum disorder causes, mechanisms, and treatments: focus on neuronal synapses
Hyejung Won,Won Mah,Eunjoon Kim +2 more
TL;DR: This review will try to integrate three key aspects of ASD research: human genetics, animal models, and potential treatments, to reveal core mechanisms that account for a larger fraction of ASD cases and identify neural mechanisms associated with specific ASD symptoms, providing important clues to efficient ASD treatment.
Journal ArticleDOI
Altered mTOR signaling and enhanced CYFIP2 expression levels in subjects with fragile X syndrome.
Charles A. Hoeffer,Eleonora Sanchez,Randi J Hagerman,Yi Mu,Danh V. Nguyen,Helen Wong,Ashley M. Whelan,R. S. Zukin,Eric Klann,Flora Tassone +9 more
TL;DR: Previous findings using lymphocytes for studies of neuropsychiatric disorders are verified and evidence that misregulation of mTOR signaling observed in the FXS mouse model also occurs in human FXS is provided and may provide useful biomarkers for designing targeted treatments in FXS.
Journal ArticleDOI
Quantifying genetic effects on disease mediated by assayed gene expression levels
Douglas Yao,Luke J. O’Connor,Luke J. O’Connor,Alkes L. Price,Alkes L. Price,Alexander Gusev,Alexander Gusev,Alexander Gusev +7 more
TL;DR: It is demonstrated that assayed bulk tissue eQTLs, although disease relevant, cannot explain the majority of disease heritability, and a new method, mediated expression score regression (MESC), is introduced to estimate heritability mediated by the cis genetic component of gene expression levels.
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