Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice - Wikidata - wikimedia - TriplyDB

Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice

Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice

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Adeno Associated Viral Vector Delivered RNAi for Gene Therapy of SOD1 Amyotrophic Lateral Sclerosis From animal models to human disease: a genetic approach for personalized medicine in ALS There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALS Pathogenesis of FUS-associated ALS and FTD: insights from rodent models Glycine-alanine dipeptide repeat protein contributes to toxicity in a zebrafish model of C9orf72 associated neurodegeneration Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway.Loss of C9orf72 Enhances Autophagic Activity via Deregulated mTOR and TFEB Signaling C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling.Cytoplasmic poly-GA aggregates impair nuclear import of TDP-43 in C9orf72 ALS/FTLD.C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten.Loss of Ranbp2 in motoneurons causes disruption of nucleocytoplasmic and chemokine signaling, proteostasis of hnRNPH3 and Mmp28, and development of amyotrophic lateral sclerosis-like syndromes A C9ORF72 BAC mouse model recapitulates key epigenetic perturbations of ALS/FTD Mouse Models of C9orf72 Hexanucleotide Repeat Expansion in Amyotrophic Lateral Sclerosis/ Frontotemporal Dementia Cell-type specific differences in promoter activity of the ALS-linked C9orf72 mouse ortholog.Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs Comparative Analysis of piggyBac, CRISPR/Cas9 and TALEN Mediated BAC Transgenesis in the Zygote for the Generation of Humanized SIRPA Rats Marked Differences in C9orf72 Methylation Status and Isoform Expression between C9/ALS Human Embryonic and Induced Pluripotent Stem Cells.Frontotemporal lobar degeneration: Pathogenesis, pathology and pathways to phenotype.New Insights on the Mechanisms of Disease Course Variability in ALS from Mutant SOD1 Mouse Models.The small heat shock protein B8 (HSPB8) efficiently removes aggregating species of dipeptides produced in C9ORF72-related neurodegenerative diseases.Poly(GR) in C9ORF72-Related ALS/FTD Compromises Mitochondrial Function and Increases Oxidative Stress and DNA Damage in iPSC-Derived Motor Neurons.Viral delivery of C9orf72 hexanucleotide repeat expansions in mice leads to repeat-length-dependent neuropathology and behavioural deficits.C9ORF72 Regulates Stress Granule Formation and Its Deficiency Impairs Stress Granule Assembly, Hypersensitizing Cells to Stress.Genetics of FTLD: overview and what else we can expect from genetic studies.Insights into the pathogenic mechanisms of Chromosome 9 open reading frame 72 (C9orf72) repeat expansions.Nuclear transport dysfunction: a common theme in amyotrophic lateral sclerosis and frontotemporal dementia.Molecular neuropathology of frontotemporal dementia: insights into disease mechanisms from postmortem studies.Precision medicine, genomics and drug discovery.Pathogenic determinants and mechanisms of ALS/FTD linked to hexanucleotide repeat expansions in the C9orf72 gene.Decoding ALS: from genes to mechanism.High content analysis in amyotrophic lateral sclerosis.ALS/FTLD: experimental models and reality.RNA toxicity and foci formation in microsatellite expansion diseases.The Role of Dipeptide Repeats in C9ORF72-Related ALS-FTD.New developments in RAN translation: insights from multiple diseases.Modelling C9orf72 dipeptide repeat proteins of a physiologically relevant size.MicroRNA Metabolism and Dysregulation in Amyotrophic Lateral Sclerosis.New routes in frontotemporal dementia drug discovery.Antisense Oligonucleotides: Translation from Mouse Models to Human Neurodegenerative Diseases.

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Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice

http://www.wikidata.org/entity/Q36788842

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2015年论文

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2015年论文

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2015年论文

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Human C9ORF72 Hexanucleotide E ...... eration in BAC Transgenic Mice

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Human C9ORF72 Hexanucleotide E ...... eration in BAC Transgenic Mice

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Human C9ORF72 Hexanucleotide E ...... eration in BAC Transgenic Mice

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Human C9ORF72 Hexanucleotide E ...... eration in BAC Transgenic Mice

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Human C9ORF72 Hexanucleotide E ...... eration in BAC Transgenic Mice

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Human C9ORF72 Hexanucleotide E ...... eration in BAC Transgenic Mice

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Human C9ORF72 Hexanucleotide E ...... eration in BAC Transgenic Mice

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Alexandra Weiss

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Chris Jung

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Dennis Dickson

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Fen-Biao Gao

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H Robert Horvitz

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Helene Tran

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Huaming Sun

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Jake Metterville

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P2860

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

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

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

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

Pathological mechanisms underlying TDP-43 driven neurodegeneration in FTLD-ALS spectrum disorders

State of play in amyotrophic lateral sclerosis genetics

The neocortical circuit: themes and variations

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