Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations.
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TARDBP mutation analysis in TDP-43 proteinopathies and deciphering the toxicity of mutant TDP-43Impaired Autophagy and Defective Mitochondrial Function: Converging Paths on the Road to Motor Neuron DegenerationPhenotypic Heterogeneity of Monogenic Frontotemporal DementiaUltrastructural studies of ALS mitochondria connect altered function and permeability with defects of mitophagy and mitochondriogenesisTDP-43 aggregation in neurodegeneration: are stress granules the key?TDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets.The complex molecular biology of amyotrophic lateral sclerosis (ALS)The tau tubulin kinases TTBK1/2 promote accumulation of pathological TDP-43PolyQ repeat expansions in ATXN2 associated with ALS are CAA interrupted repeatsTARDBP 3'-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathyAssociation between novel TARDBP mutations and Chinese patients with amyotrophic lateral sclerosisCytoplasmic mislocalization of TDP-43 is toxic to neurons and enhanced by a mutation associated with familial amyotrophic lateral sclerosis.Mutant TDP-43 does not impair mitochondrial bioenergetics in vitro and in vivoDrosophila lines with mutant and wild type human TDP-43 replacing the endogenous gene reveals phosphorylation and ubiquitination in mutant lines in the absence of viability or lifespan defects.Biomarkers in frontotemporal lobar degenerations--progress and challenges.Mutational analysis of TARDBP in neurodegenerative diseasesTAR DNA-binding protein 43 in neurodegenerative disease.Cytoplasmic accumulation and aggregation of TDP-43 upon proteasome inhibition in cultured neurons.Frontotemporal lobar degeneration: epidemiology, pathophysiology, diagnosis and management.Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementiaTDP-43 is directed to stress granules by sorbitol, a novel physiological osmotic and oxidative stressor.TDP-43 proteinopathy in familial motor neurone disease with TARDBP A315T mutation: a case report.Genetic overlap between apparently sporadic motor neuron diseases.Review: transactive response DNA-binding protein 43 (TDP-43): mechanisms of neurodegeneration.The RNA-binding protein fused in sarcoma (FUS) functions downstream of poly(ADP-ribose) polymerase (PARP) in response to DNA damageTransgenic animal models of neurodegeneration based on human genetic studies.Amyotrophic lateral sclerosis and frontotemporal lobar degeneration: a spectrum of TDP-43 proteinopathies.Amyotrophic lateral sclerosis: one or multiple causes?Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia.A novel mutation P112H in the TARDBP gene associated with frontotemporal lobar degeneration without motor neuron disease and abundant neuritic amyloid plaquesA fruitful endeavor: modeling ALS in the fruit flyRodent models of TDP-43 proteinopathy: investigating the mechanisms of TDP-43-mediated neurodegenerationAging--RNA in development and disease.The hnRNP-Htt axis regulates necrotic cell death induced by transcriptional repression through impaired RNA splicing.Amyotrophic lateral sclerosis: update and new developments.TARDBP mutations are not a frequent cause of ALS in Finnish patients.Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations.Structural analysis of disease-related TDP-43 D169G mutation: linking enhanced stability and caspase cleavage efficiency to protein accumulation.Skeletal muscle in motor neuron diseases: therapeutic target and delivery route for potential treatments.RNA processing defects associated with diseases of the motor neuron
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Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
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scientific article published on September 2008
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vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations.
@en
Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations.
@nl
type
label
Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations.
@en
Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations.
@nl
prefLabel
Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations.
@en
Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations.
@nl
P2093
P2860
P50
P1433
P1476
Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations.
@en
P2093
Ben Vanmassenhove
Hans A Kretzschmar
Peter Kühnlein
Virginia M-Y Lee
Vivianna Van Deerlin
P2860
P304
P356
10.1001/ARCHNEUR.65.9.1185
P577
2008-09-01T00:00:00Z