Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing
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There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALSGlycine-alanine dipeptide repeat protein contributes to toxicity in a zebrafish model of C9orf72 associated neurodegenerationReduced hnRNPA3 increases C9orf72 repeat RNA levels and dipeptide-repeat protein depositionBidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degenerationCytoplasmic poly-GA aggregates impair nuclear import of TDP-43 in C9orf72 ALS/FTLD.Abnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriersPoly-GP in cerebrospinal fluid links C9orf72-associated dipeptide repeat expression to the asymptomatic phase of ALS/FTD.Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers.Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.ALS biomarkers for therapy development: State of the field and future directions.The Glycine-Alanine Dipeptide Repeat from C9orf72 Hexanucleotide Expansions Forms Toxic Amyloids Possessing Cell-to-Cell Transmission PropertiesNeurodegeneration in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9orf72 is linked to TDP-43 pathology and not associated with aggregated forms of dipeptide repeat proteins.Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAsC9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins.Timing and significance of pathological features in C9orf72 expansion-associated frontotemporal dementia.Frontotemporal lobar degeneration: Pathogenesis, pathology and pathways to phenotype.Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis.Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients.Poly(GR) in C9ORF72-Related ALS/FTD Compromises Mitochondrial Function and Increases Oxidative Stress and DNA Damage in iPSC-Derived Motor Neurons.Dynamic expression of the mouse orthologue of the human amyotropic lateral sclerosis associated gene C9orf72 during central nervous system development and neuronal differentiation.Viral delivery of C9orf72 hexanucleotide repeat expansions in mice leads to repeat-length-dependent neuropathology and behavioural deficits.Insights into the pathogenic mechanisms of Chromosome 9 open reading frame 72 (C9orf72) repeat expansions.RAN translation-What makes it run?Genetics of Frontotemporal Lobar Degeneration: From the Bench to the Clinic.Stress granules at the intersection of autophagy and ALS.Molecular neuropathology of frontotemporal dementia: insights into disease mechanisms from postmortem studies.Pathogenic determinants and mechanisms of ALS/FTD linked to hexanucleotide repeat expansions in the C9orf72 gene.Decoding ALS: from genes to mechanism.The Role of Dipeptide Repeats in C9ORF72-Related ALS-FTD.C9orf72: At the intersection of lysosome cell biology and neurodegenerative disease.RNA Misprocessing in C9orf72-Linked Neurodegeneration.Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron loss.Failure to Deliver and Translate-New Insights into RNA Dysregulation in ALS.Cell-to-Cell Transmission of Dipeptide Repeat Proteins Linked to C9orf72-ALS/FTD.Antibodies inhibit transmission and aggregation of C9orf72 poly-GA dipeptide repeat proteinsSense-encoded poly-GR dipeptide repeat proteins correlate to neurodegeneration and uniquely co-localize with TDP-43 in dendrites of repeat-expanded C9orf72 amyotrophic lateral sclerosis.Regulation of mRNA Translation in Neurons-A Matter of Life and Death.Repeat-associated non-AUG translation from antisense CCG repeats in fragile X tremor/ataxia syndrome.Dysregulated molecular pathways in amyotrophic lateral sclerosis-frontotemporal dementia spectrum disorder.Atrophy in the Thalamus But Not Cerebellum Is Specific for C9orf72 FTD and ALS Patients - An Atlas-Based Volumetric MRI Study.
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P2860
Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing
description
2015 nî lūn-bûn
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2015年の論文
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
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name
Distribution of dipeptide repe ...... k to transcriptional silencing
@ast
Distribution of dipeptide repe ...... k to transcriptional silencing
@en
type
label
Distribution of dipeptide repe ...... k to transcriptional silencing
@ast
Distribution of dipeptide repe ...... k to transcriptional silencing
@en
prefLabel
Distribution of dipeptide repe ...... k to transcriptional silencing
@ast
Distribution of dipeptide repe ...... k to transcriptional silencing
@en
P2093
P2860
P1476
Distribution of dipeptide repe ...... k to transcriptional silencing
@en
P2093
Bavarian Brain Banking Alliance
Clemens Küpper
Elisabeth Kremmer
Friedrich A Grässer
German Consortium for Frontotemporal Lobar Degeneration
Kristin Rentzsch
Martin H Schludi
Stephanie May
Thomas Arzberger
Thomas Klopstock
P2860
P2888
P304
P356
10.1007/S00401-015-1450-Z
P577
2015-06-18T00:00:00Z