Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS - Wikidata - thesis-toulmin - TriplyDB

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

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

http://www.wikidata.org/entity/Q24608159

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C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies Inside out: the role of nucleocytoplasmic transport in ALS and FTLD There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALS Modeling ALS and FTD with iPSC-derived neurons Clinical Trial Designs in Amyotrophic Lateral Sclerosis: Does One Design Fit All?RAN translation and frameshifting as translational challenges at simple repeats of human neurodegenerative disorders Pathological mechanisms underlying TDP-43 driven neurodegeneration in FTLD-ALS spectrum disorders Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis Therapeutic and diagnostic challenges for frontotemporal dementia Diagnosis and management of behavioral variant frontotemporal dementia The unstable repeats--three evolving faces of neurological disease Pathways disrupted in human ALS motor neurons identified through genetic correction of mutant SOD1.Modeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells.C9orf72's Interaction with Rab GTPases-Modulation of Membrane Traffic and Autophagy A Case for Microtubule Vulnerability in Amyotrophic Lateral Sclerosis: Altered Dynamics During Disease TDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets.Frontotemporal dementia: a bridge between dementia and neuromuscular disease Emerging mechanisms of molecular pathology in ALS RNA-mediated pathogenic mechanisms in polyglutamine diseases and amyotrophic lateral sclerosis G-quadruplexes: Emerging roles in neurodegenerative diseases and the non-coding transcriptome Proteomics of protein post-translational modifications implicated in neurodegeneration Drosophila as an In Vivo Model for Human Neurodegenerative Disease Glycine-alanine dipeptide repeat protein contributes to toxicity in a zebrafish model of C9orf72 associated neurodegeneration Inhibition of Non-ATG Translational Events in Cells via Covalent Small Molecules Targeting RNA Approaches to Validate and Manipulate RNA Targets with Small Molecules in Cells Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy Loss of C9orf72 Enhances Autophagic Activity via Deregulated mTOR and TFEB Signaling The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.Reduced hnRNPA3 increases C9orf72 repeat RNA levels and dipeptide-repeat protein deposition Intrinsic disorder in proteins involved in amyotrophic lateral sclerosis.Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons Drosophila TDP-43 dysfunction in glia and muscle cells cause cytological and behavioural phenotypes that characterize ALS and FTLD Toxic PR Poly-Dipeptides Encoded by the C9orf72 Repeat Expansion Target LC Domain Polymers.Nimbolide targets BCL2 and induces apoptosis in preclinical models of Waldenströms macroglobulinemia.Bioinformatics Data Mining Approach Suggests Coexpression of AGTPBP1 with an ALS-linked Gene C9orf72.Topology of a G-quadruplex DNA formed by C9orf72 hexanucleotide repeats associated with ALS and FTD.Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration

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P2860

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

http://www.wikidata.org/entity/Q24608159

description

2013 nî lūn-bûn

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2013 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2013 թվականի փետրվարին հրատարակված գիտական հոդված

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2013年の論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年论文

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Unconventional translation of ...... peptides specific to c9FTD/ALS

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Joseph W Paul

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Karen Jansen-West

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Kevin B Boylan

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Mariely Dejesus-Hernandez

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Peter E A Ash

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Tania F Gendron

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Thomas Caulfield

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Wen-Lang Lin

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P2860

Discovery of Novel DENN Proteins: Implications for the Evolution of Eukaryotic Intracellular Membrane Structures and Human Disease

The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs

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

Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

Non-ATG-initiated translation directed by microsatellite expansions.

Statistical potentials for hairpin and internal loops improve the accuracy of the predicted RNA structure.

Frontotemporal lobar degeneration with TDP-43 proteinopathy and chromosome 9p repeat expansion in C9ORF72: clinicopathologic correlation

Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion.

The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum

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639-46

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10.1016/J.NEURON.2013.02.004

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4

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Rosa Rademakers

Dennis W. Dickson

Marka van Blitterswijk

Kevin F. Bieniek

Leonard Petrucelli

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2013-02-20T00:00:00Z

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amyotrophic lateral sclerosis

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