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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An epigenetic framework for neurodevelopmental disorders: from pathogenesis to potential therapy.
TL;DR: A broad-based epigenetic framework is advocated for understanding and ultimately treating a diverse assemblage of NDDs ("epigenopathies") lying at the interface of genetic, developmental and environmental processes.
Journal ArticleDOI
Whole-genome deep-learning analysis identifies contribution of noncoding mutations to autism risk
Jian Zhou,Christopher Y. Park,Chandra L. Theesfeld,Aaron K. Wong,Yuan Yuan,Yuan Yuan,Claudia Scheckel,Claudia Scheckel,John J. Fak,Julien Funk,Kevin Yao,Yoko Tajima,Alan Packer,Robert B. Darnell,Olga G. Troyanskaya +14 more
TL;DR: Application of a deep-learning-based framework shows that individuals with autism spectrum disorder (ASD) harbor regulation-disrupting mutations of higher functional impact than those in unaffected siblings and identifies a convergent genetic landscape of coding and noncoding de novo mutations in ASD.
Journal ArticleDOI
Germline Chd8 haploinsufficiency alters brain development in mouse.
Andrea Gompers,Linda Su-Feher,Jacob Ellegood,Nycole A. Copping,M. Asrafuzzaman Riyadh,Tyler W. Stradleigh,Michael C. Pride,Melanie D. Schaffler,A. Ayanna Wade,Rinaldo Catta-Preta,Iva Zdilar,Shreya Louis,Gaurav Kaushik,Brandon J. Mannion,Ingrid Plajzer-Frick,Veena Afzal,Axel Visel,Axel Visel,Axel Visel,Len A. Pennacchio,Len A. Pennacchio,Diane E. Dickel,Jason P. Lerch,Jacqueline N. Crawley,Konstantinos Zarbalis,Jill L. Silverman,Alexander Nord +26 more
TL;DR: This integrative analysis offers an initial picture of the consequences of Chd8 haploinsufficiency for brain development and identified a co-expression module with peak expression in early brain development featuring dysregulation of RNA processing, chromatin remodeling and cell-cycle genes enriched for promoter binding by ChD8.
Journal ArticleDOI
Cytoplasmic Rbfox1 Regulates the Expression of Synaptic and Autism-Related Genes
Ji-Ann Lee,Andrey Damianov,Chia-Ho Lin,Mariana M. Fontes,Neelroop N. Parikshak,Erik S. Anderson,Daniel H. Geschwind,Douglas L. Black,Kelsey C. Martin +8 more
TL;DR: The results uncover a new Rbfox1 regulatory network and highlight the importance of cytoplasmic RNA metabolism to cortical development and disease.
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A Synaptic Perspective of Fragile X Syndrome and Autism Spectrum Disorders.
TL;DR: It is inferred that there is no single pathway that explains most of the etiology of fragile X syndrome and related ASDs, and new findings and the implications for future work directed at improving the understanding of the pathogenesis and the design of therapeutic strategies to ameliorate these disorders.
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