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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Insights on the Functional Impact of MicroRNAs Present in Autism-Associated Copy Number Variants
TL;DR: To the authors' knowledge, this is the first report to highlight the significance of CNV-microRNAs and their target genes to contribute towards the genetic heterogeneity and phenotypic variability of autism.
Journal ArticleDOI
Expression of fragile X mental retardation protein in neurons and glia of the developing and adult mouse brain.
TL;DR: It is revealed that in addition to continuous and extensive expression in neurons in the immature and mature brain, FMRP is also present in astrocytes, oligodendrocyte precursor cells, and microglia during the early and mid-postnatal developmental stages of brain maturation.
Journal ArticleDOI
Overexpression of Down syndrome cell adhesion molecule impairs precise synaptic targeting
TL;DR: The results indicate that excess Dscam protein may be a common molecular mechanism underlying altered neural wiring in intellectual disabilities such as Fragile X and Down syndromes.
Journal ArticleDOI
Reducing eIF4E-eIF4G interactions restores the balance between protein synthesis and actin dynamics in fragile X syndrome model mice
Emanuela Santini,Emanuela Santini,Thu N. Huynh,Francesco Longo,So Yeon Koo,Edward Mojica,Laura D'Andrea,Claudia Bagni,Eric Klann +8 more
TL;DR: These findings are consistent with the idea that an imbalance in protein synthesis and actin dynamics contributes to pathophysiology in FXS mice, and suggest that targeting eIF4E may be a strategy for treating FXS.
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A perturbed gene network containing PI3K-AKT, RAS-ERK and WNT-β-catenin pathways in leukocytes is linked to ASD genetics and symptom severity.
Vahid H. Gazestani,Tiziano Pramparo,Srinivasa Nalabolu,Benjamin P. Kellman,Sarah S. Murray,Linda Lopez,Karen Pierce,Eric Courchesne,Nathan E. Lewis +8 more
TL;DR: It is found that the degree of dysregulation in this perturbed gene network correlated with the severity of ASD symptoms in the toddlers, demonstrating how the heterogeneous genetics of ASD may dysregulate a core network to influence brain development at prenatal and very early postnatal ages and, thereby, the severityof later ASD symptoms.
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