Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome. - Wikidata - wikimedia - TriplyDB

Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome.

Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome.

http://www.wikidata.org/entity/Q37604170

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Selective rescue of heightened anxiety but not gait ataxia in a premutation 90CGG mouse model of Fragile X-associated tremor/ataxia syndrome.New developments in RAN translation: insights from multiple diseases.Protein sequestration as a normal function of long noncoding RNAs and a pathogenic mechanism of RNAs containing nucleotide repeat expansions.Fragile X syndrome: an overview and update of the FMR1 gene.Fragile X-Associated Diminished Ovarian Reserve and Primary Ovarian Insufficiency from Molecular Mechanisms to Clinical Manifestations.Two FMR1 premutation cases without nuclear inclusions.Rethinking Unconventional Translation in Neurodegeneration.Regulation of mRNA Translation in Neurons-A Matter of Life and Death.Neuronal intranuclear (hyaline) inclusion disease and fragile X-associated tremor/ataxia syndrome: a morphological and molecular dilemma.RAN translation at C9orf72-associated repeat expansions is selectively enhanced by the integrated stress response.RNA-binding proteins in neurodegeneration: mechanisms in aggregate.Non-AUG translation: a new start for protein synthesis in eukaryotes.Calcium dysregulation and Cdk5-ATM pathway involved in a mouse model of fragile X-associated tremor/ataxia syndrome.Dysregulated molecular pathways in amyotrophic lateral sclerosis-frontotemporal dementia spectrum disorder.CUG initiation and frameshifting enable production of dipeptide repeat proteins from ALS/FTD C9ORF72 transcripts.Repeat-associated non-AUG (RAN) translation and other molecular mechanisms in Fragile X Tremor Ataxia Syndrome.Reevaluation of FMR1 Hypermethylation Timing in Fragile X Syndrome.Can a Neurosteroid Ameliorate Fragile X-Associated Tremor/Ataxia Syndrome?BC RNA Mislocalization in the Fragile X Premutation.Repeat-Associated Non-ATG (RAN) Translation in Fuchs' Endothelial Corneal Dystrophy.Quantitative Evaluation of Toxic Polyglycine Biosynthesis and Aggregation in Cell Models Expressing Expanded CGG Repeats.Presence of Middle Cerebellar Peduncle Sign in Premutation Carriers Without Tremor and Ataxia Pathological Study of a Premutation Carrier With Progressive Supranuclear Palsy FXPOI: Pattern of AGG Interruptions Does not Show an Association With Age at Amenorrhea Among Women With a Premutation

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Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome.

http://www.wikidata.org/entity/Q37604170

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 04 January 2017

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Translation of Expanded CGG Re ...... gile X Tremor Ataxia Syndrome.

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Translation of Expanded CGG Re ...... gile X Tremor Ataxia Syndrome.

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Translation of Expanded CGG Re ...... gile X Tremor Ataxia Syndrome.

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Translation of Expanded CGG Re ...... gile X Tremor Ataxia Syndrome.

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Translation of Expanded CGG Re ...... gile X Tremor Ataxia Syndrome.

@en

Translation of Expanded CGG Re ...... gile X Tremor Ataxia Syndrome.

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J.NEURON.2016.12.016

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Translation of Expanded CGG Re ...... agile X Tremor Ataxia Syndrome

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Alexandre Vincent

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Angeline Gaucherot

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Chantal Sellier

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Flora Tassone

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Frank Ruffenach

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Hamid Meziane

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Hugues Jacobs

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Laura Jung

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Marie Wattenhofer-Donze

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Marie-France Champy

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P2860

The fragile-X premutation: a maturing perspective.

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

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

Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans

The unstable repeats--three evolving faces of neurological disease

Reversibility of neuropathology and motor deficits in an inducible mouse model for FXTAS.

Gene expression regulation by upstream open reading frames and human disease

Regulation of translation initiation in eukaryotes: mechanisms and biological targets

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

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331-347

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scholarly article

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10.1016/J.NEURON.2016.12.016

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2

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93

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Guillaume Pavlovic

Marie-Christine Birling

Renate K Hukema

Cécile Martinat

Nicolas Charlet

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2017-01-05T00:00:00Z

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28065649

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5263258

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