The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. - Test2 - elhamkhani - TriplyDB

The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.

The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.

http://www.wikidata.org/entity/Q34326849

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Protein interaction analysis of senataxin and the ALS4 L389S mutant yields insights into senataxin post-translational modification and uncovers mutant-specific binding with a brain cytoplasmic RNA-encoded peptide 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 Recent advances in amyotrophic lateral sclerosis There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALS Golgi Fragmentation in ALS Motor Neurons. New Mechanisms Targeting Microtubules, Tethers, and Transport Vesicles To Know How a Gene Works, We Need to Redefine It First but then, More Importantly, to Let the Cell Itself Decide How to Transcribe and Process Its RNAs Frontotemporal lobar degeneration: old knowledge and new insight into the pathogenetic mechanisms of tau mutations Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia 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 State of play in amyotrophic lateral sclerosis genetics Therapeutic and diagnostic challenges for frontotemporal dementia Diagnosis and management of behavioral variant frontotemporal dementia Alzheimer's disease therapeutics targeted to the control of amyloid precursor protein translation: maintenance of brain iron homeostasis 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.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 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 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

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P2860

The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.

http://www.wikidata.org/entity/Q34326849

description

2013 nî lūn-bûn

@nan

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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name

The C9orf72 GGGGCC repeat is t ...... e-repeat proteins in FTLD/ALS.

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The C9orf72 GGGGCC repeat is t ...... e-repeat proteins in FTLD/ALS.

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The C9orf72 GGGGCC repeat is t ...... e-repeat proteins in FTLD/ALS.

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type

label

The C9orf72 GGGGCC repeat is t ...... e-repeat proteins in FTLD/ALS.

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The C9orf72 GGGGCC repeat is t ...... e-repeat proteins in FTLD/ALS.

@en

The C9orf72 GGGGCC repeat is t ...... e-repeat proteins in FTLD/ALS.

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prefLabel

The C9orf72 GGGGCC repeat is t ...... e-repeat proteins in FTLD/ALS.

@ast

The C9orf72 GGGGCC repeat is t ...... e-repeat proteins in FTLD/ALS.

@en

The C9orf72 GGGGCC repeat is t ...... e-repeat proteins in FTLD/ALS.

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SCIENCE.1232927

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The C9orf72 GGGGCC repeat is t ...... e-repeat proteins in FTLD/ALS.

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Bettina Schmid

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Elisabeth Kremmer

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Hans A Kretzschmar

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Kristin Rentzsch

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Marc Cruts

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Shih-Ming Weng

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Stephanie May

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Thomas Arzberger

http://www.w3.org/2001/XMLSchema#string

P2860

Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics

Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features

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

TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia

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

Repeat associated non-ATG translation initiation: one DNA, two transcripts, seven reading frames, potentially nine toxic entities!

Generation of protein isoform diversity by alternative initiation of translation at non-AUG codons.

Non-ATG-initiated translation directed by microsatellite expansions.

Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family.

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1335-1338

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10.1126/SCIENCE.1232927

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6125

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339

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Christian Haass

Christine Van Broeckhoven

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2013-02-07T00:00:00Z

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P5875

235423036

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23393093

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amyotrophic lateral sclerosis