CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome. - Wikidata - wikimedia - TriplyDB

CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome.

CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome.

http://www.wikidata.org/entity/Q42068973

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Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI)There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALS RAN translation and frameshifting as translational challenges at simple repeats of human neurodegenerative disorders Fragile X spectrum disorders Fragile X-associated tremor/ataxia syndrome.The multiple molecular facets of fragile X-associated tremor/ataxia syndrome State of play in amyotrophic lateral sclerosis genetics Remote control of gene function by local translation The role of AGG interruptions in fragile X repeat expansions: a twenty-year perspective Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders Reversibility of neuropathology and motor deficits in an inducible mouse model for FXTAS.Modeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells.Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders Detection and Quantification of the Fragile X Mental Retardation Protein 1 (FMRP)Non-coding RNA in neural function, disease, and aging G-quadruplexes: Emerging roles in neurodegenerative diseases and the non-coding transcriptome Glycine-alanine dipeptide repeat protein contributes to toxicity in a zebrafish model of C9orf72 associated neurodegeneration Transcription-associated R-loop formation across the human FMR1 CGG-repeat region CGG Repeats in the 5'UTR of FMR1 RNA Regulate Translation of Other RNAs Localized in the Same RNA Granules Inhibition of Non-ATG Translational Events in Cells via Covalent Small Molecules Targeting RNA Premutation in the Fragile X Mental Retardation 1 (FMR1) Gene Affects Maternal Zn-milk and Perinatal Brain Bioenergetics and Scaffolding.CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles.Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety.Fragile X-Associated Tremor/Ataxia Syndrome: From Molecular Pathogenesis to Development of Therapeutics.SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits.Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome Expression of an expanded CGG-repeat RNA in a single pair of primary sensory neurons impairs olfactory adaptation in Caenorhabditis elegans.Understanding decreased fertility in women carriers of the FMR1 premutation: a possible mechanism for Fragile X-Associated Primary Ovarian Insufficiency (FXPOI).Genomic studies in fragile X premutation carriers.Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress.RNA-protein interactions in unstable microsatellite diseases.Cerebral protein synthesis in a knockin mouse model of the fragile X premutation.Genes and genetic testing in hereditary ataxias.A superfolding Spinach2 reveals the dynamic nature of trinucleotide repeat-containing RNA Structural basis of nucleic-acid recognition and double-strand unwinding by the essential neuronal protein Pur-alpha Fragile X mental retardation protein expression in Alzheimer's disease Repeat associated non-ATG (RAN) translation: new starts in microsatellite expansion disorders.Molecular Advances Leading to Treatment Implications for Fragile X Premutation Carriers FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome Current research, diagnosis, and treatment of fragile X-associated tremor/ataxia syndrome.

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CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome.

http://www.wikidata.org/entity/Q42068973

description

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name

CGG repeat-associated translat ...... gile X tremor ataxia syndrome.

@en

CGG repeat-associated translat ...... gile X tremor ataxia syndrome.

@nl

type

label

CGG repeat-associated translat ...... gile X tremor ataxia syndrome.

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CGG repeat-associated translat ...... gile X tremor ataxia syndrome.

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prefLabel

CGG repeat-associated translat ...... gile X tremor ataxia syndrome.

@en

CGG repeat-associated translat ...... gile X tremor ataxia syndrome.

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J.NEURON.2013.03.026

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CGG repeat-associated translat ...... gile X tremor ataxia syndrome.

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Abigail J Renoux

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Amy Krans

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Chantal Sellier

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Fang He

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Henry L Paulson

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J Paul Taylor

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Jean P Vonsattel

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K Matthew Scaglione

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Kai-chun Chen

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Kojo Elenitoba-Johnson

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P2860

Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

The ribosome profiling strategy for monitoring translation in vivo by deep sequencing of ribosome-protected mRNA fragments

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

Facile FMR1 mRNA structure regulation by interruptions in CGG repeats

Mammalian microRNAs predominantly act to decrease target mRNA levels

High-resolution view of the yeast meiotic program revealed by ribosome profiling.

Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population

RNA toxicity is a component of ataxin-3 degeneration in Drosophila

Identification of evolutionarily conserved non-AUG-initiated N-terminal extensions in human coding sequences

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