Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72.
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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 disordersTDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets.Frontotemporal dementia: a bridge between dementia and neuromuscular diseaseRNA-mediated pathogenic mechanisms in polyglutamine diseases and amyotrophic lateral sclerosisG-quadruplexes: Emerging roles in neurodegenerative diseases and the non-coding transcriptomeDrosophila as an In Vivo Model for Human Neurodegenerative DiseaseProtein Homeostasis in Amyotrophic Lateral Sclerosis: Therapeutic Opportunities?Protein Quality Control and the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia ContinuumAbnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriersC9orf72 amyotrophic lateral sclerosis and frontotemporal dementia: gain or loss of function?The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype.Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72Repeat associated non-ATG (RAN) translation: new starts in microsatellite expansion disorders.Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansionSmall deletion in C9orf72 hides a proportion of expansion carriers in FTLD.Drosha inclusions are new components of dipeptide-repeat protein aggregates in FTLD-TDP and ALS C9orf72 expansion casesFrontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine.The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis.Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration.Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature.Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers.Antisense proline-arginine RAN dipeptides linked to C9ORF72-ALS/FTD form toxic nuclear aggregates that initiate in vitro and in vivo neuronal death.Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.Heterogeneous ribonuclear protein A3 (hnRNP A3) is present in dipeptide repeat protein containing inclusions in Frontotemporal Lobar Degeneration and Motor Neurone disease associated with expansions in C9orf72 geneC9orf72 mutations do not influence the tau signature of amyotrophic lateral sclerosis with cognitive impairment (ALSci).Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits.The Glycine-Alanine Dipeptide Repeat from C9orf72 Hexanucleotide Expansions Forms Toxic Amyloids Possessing Cell-to-Cell Transmission PropertiesPathological tau deposition in Motor Neurone Disease and frontotemporal lobar degeneration associated with TDP-43 proteinopathyNeurodegeneration 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.Accumulation of dipeptide repeat proteins predates that of TDP-43 in frontotemporal lobar degeneration associated with hexanucleotide repeat expansions in C9ORF72 geneMechanisms of toxicity in C9FTLD/ALS.The neuropathology associated with repeat expansions in the C9ORF72 gene.C9ORF72 hexanucleotide repeats in behavioral and motor neuron disease: clinical heterogeneity and pathological diversity.Pathogenesis/genetics of frontotemporal dementia and how it relates to ALS.Heterogeneous ribonuclear protein E2 (hnRNP E2) is associated with TDP-43-immunoreactive neurites in Semantic Dementia but not with other TDP-43 pathological subtypes of Frontotemporal Lobar Degeneration.Timing and significance of pathological features in C9orf72 expansion-associated frontotemporal dementia.Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD.Frontotemporal lobar degeneration: Pathogenesis, pathology and pathways to phenotype.Promising Targets for the Treatment of Neurodegenerative Diseases.
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Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
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artigo científico
@pt
bilimsel makale
@tr
scientific article published on 14 October 2013
@en
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
Dipeptide repeat proteins are ...... ed with expansions in C9ORF72.
@en
Dipeptide repeat proteins are ...... ed with expansions in C9ORF72.
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type
label
Dipeptide repeat proteins are ...... ed with expansions in C9ORF72.
@en
Dipeptide repeat proteins are ...... ed with expansions in C9ORF72.
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prefLabel
Dipeptide repeat proteins are ...... ed with expansions in C9ORF72.
@en
Dipeptide repeat proteins are ...... ed with expansions in C9ORF72.
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P2093
P2860
P50
P356
P1476
Dipeptide repeat proteins are ...... ed with expansions in C9ORF72.
@en
P2093
David M A Mann
Masami Masuda-Suzukake
Masato Hasegawa
Sara Rollinson
Tania Gendron
Yvonne Davidson
P2860
P2888
P356
10.1186/2051-5960-1-68
P50
P577
2013-10-14T00:00:00Z
P5875
P6179
1051799785