Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
about
Genetic counseling for FTD/ALS caused by the C9ORF72 hexanucleotide expansionThe ubiquilin gene family: evolutionary patterns and functional insightsDysregulation of the autophagy-endolysosomal system in amyotrophic lateral sclerosis and related motor neuron diseasesMilitary service, deployments, and exposures in relation to amyotrophic lateral sclerosis etiology and survivalUbiquilin-2 (UBQLN2) binds with high affinity to the C-terminal region of TDP-43 and modulates TDP-43 levels in H4 cells: characterization of inhibition by nucleic acids and 4-aminoquinolinesC9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal traffickingPathogenic mutation of UBQLN2 impairs its interaction with UBXD8 and disrupts endoplasmic reticulum-associated protein degradationMolecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritanceEvaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosisMutations in the profilin 1 gene cause familial amyotrophic lateral sclerosisFrom animal models to human disease: a genetic approach for personalized medicine in ALSThe recognition of ubiquitinated proteins by the proteasomeToward precision medicine in amyotrophic lateral sclerosisImpaired Autophagy and Defective Mitochondrial Function: Converging Paths on the Road to Motor Neuron DegenerationThe Use of Stem Cells to Model Amyotrophic Lateral Sclerosis and Frontotemporal Dementia: From Basic Research to Regenerative MedicineGenotype-phenotype correlations of amyotrophic lateral sclerosisUBA1: At the Crossroads of Ubiquitin Homeostasis and NeurodegenerationUltrastructural studies of ALS mitochondria connect altered function and permeability with defects of mitophagy and mitochondriogenesisClinical and genetic basis of familial amyotrophic lateral sclerosisAutophagy and Neurodegeneration: Insights from a Cultured Cell Model of ALSMolecular motor proteins and amyotrophic lateral sclerosisThe epidemiology of frontotemporal dementiaPresymptomatic studies in ALS: rationale, challenges, and approachTransplantation of stem cell-derived astrocytes for the treatment of amyotrophic lateral sclerosis and spinal cord injuryPathological mechanisms underlying TDP-43 driven neurodegeneration in FTLD-ALS spectrum disordersConverging mechanisms in ALS and FTD: disrupted RNA and protein homeostasisState of play in amyotrophic lateral sclerosis geneticsSumoylation of critical proteins in amyotrophic lateral sclerosis: emerging pathways of pathogenesisMitochondrial dysfunction in amyotrophic lateral sclerosis - a valid pharmacological target?Therapeutic neuroprotective agents for amyotrophic lateral sclerosisDoes a loss of TDP-43 function cause neurodegeneration?Redox regulation in amyotrophic lateral sclerosisCorticospinal Motor Neurons Are Susceptible to Increased ER Stress and Display Profound Degeneration in the Absence of UCHL1 FunctionMutant TDP-43 and FUS cause age-dependent paralysis and neurodegeneration in C. elegansFunctional contribution of the transcription factor ATF4 to the pathogenesis of amyotrophic lateral sclerosisRNA-Seq profiling of spinal cord motor neurons from a presymptomatic SOD1 ALS mouseA perspective on stem cell modeling of amyotrophic lateral sclerosisTDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets.Frontotemporal dementia: a bridge between dementia and neuromuscular diseaseEmerging mechanisms of molecular pathology in ALS
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P2860
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
description
2011 nî lūn-bûn
@nan
2011 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
@ast
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
@en
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
@nl
type
label
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
@ast
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
@en
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
@nl
prefLabel
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
@ast
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
@en
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
@nl
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P50
P3181
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Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
@en
P2093
Benjamin R Brooks
Eileen H Bigio
Enrico Mugnaini
Evadnie Rampersaud
Faisal Fecto
George H Gorrie
Gerard H Jansen
Hujun Jiang
Kaouther Ajroud
P2860
P2888
P3181
P356
10.1038/NATURE10353
P407
P577
2011-09-08T00:00:00Z
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P6179
1041330211