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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In Sickness and in Health: Perineuronal Nets and Synaptic Plasticity in Psychiatric Disorders.
TL;DR: Evidence for PNN/ECM-related pathology in psychiatric disorders, with particular emphasis on schizophrenia, is reviewed, and the hypothesis that such pathology may significantly contribute to synaptic dysfunction is discussed.
Journal ArticleDOI
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
Slavé Petrovski,Sébastien Küry,Candace T. Myers,Kwame Anyane-Yeboa,Benjamin Cogné,Martin G. Bialer,Fan Xia,Parisa Hemati,James J. Riviello,Michele G. Mehaffey,Thomas Besnard,Emily Becraft,Alexandrea Wadley,Anya Revah Politi,Sophie Colombo,Xiaolin Zhu,Zhong Ren,Ian Andrews,Tracy Dudding-Byth,Amy L Schneider,Geoffrey Wallace,Aaron Rosen,Susan Schelley,Gregory M. Enns,Pierre Corre,Joline C. Dalton,Sandra Mercier,Xenia Latypova,Sébastien Schmitt,Edwin Guzman,Christine Moore,Louise Bier,Erin L. Heinzen,Peter I. Karachunski,Natasha Shur,Theresa A. Grebe,Alice Basinger,Joanne M. Nguyen,Stéphane Bézieau,Klaas J. Wierenga,Jonathan A. Bernstein,Ingrid E. Scheffer,Jill A. Rosenfeld,Heather C Mefford,Bertrand Isidor,David Goldstein +45 more
TL;DR: Whole-exome sequencing of 13 individuals with developmental delay commonly accompanied by abnormal muscle tone and seizures identified de novo missense mutations enriched within a sub-region of GNB1, a gene encoding the guanine nucleotide-binding protein subunit beta-1, Gβ, implicating GNB 1 as a genome-wide-significant disease-associated gene.
Journal ArticleDOI
Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.
Ricardo Harripaul,Ricardo Harripaul,Nasim Vasli,Anna Mikhailov,Muhammad Rafiq,Muhammad Rafiq,Kirti Mittal,Christian Windpassinger,Taimoor I. Sheikh,Taimoor I. Sheikh,Abdul Noor,Abdul Noor,Huda Mahmood,Samantha Downey,Samantha Downey,Maneesha Johnson,Maneesha Johnson,Kayla Vleuten,Kayla Vleuten,Lauren Bell,Lauren Bell,Muhammad Ilyas,Falak Sher Khan,Valeed Khan,Mohammad Moradi,Muhammad Ayaz,Farooq Naeem,Abolfazl Heidari,Iltaf Ahmed,Shirin Ghadami,Zia Agha,Sirous Zeinali,Raheel Qamar,Raheel Qamar,Hossein Mozhdehipanah,Peter John,Asif Mir,Muhammad Ansar,Leon French,Muhammad Ayub,John B. Vincent,John B. Vincent +41 more
TL;DR: The high yield of AR mutations for ID indicated that this approach has excellent clinical potential and should inform clinical diagnostics, including clinical whole exome and genome sequencing, for populations in which consanguinity is common.
Journal ArticleDOI
Human FMRP contains an integral tandem Agenet (Tudor) and KH motif in the amino terminal domain
TL;DR: The amino terminal crystal structures of wild-type FMRP are reported, and a mutant that disrupts the amino terminus function is reported, containing an integral tandem Agenet and discover a novel KH motif.
Journal ArticleDOI
Excess Translation of Epigenetic Regulators Contributes to Fragile X Syndrome and Is Alleviated by Brd4 Inhibition
Erica Korb,Margaret Herre,Ilana Zucker-Scharff,Jodi Gresack,C. David Allis,Robert B. Darnell +5 more
TL;DR: It is concluded that loss of FMRP results in significant epigenetic misregulation and that targeting transcription via epigenetic regulators like Brd4 may provide new treatments for FXS.
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