Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
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Exome sequencing and functional analysis identifies a novel mutation in EXT1 gene that causes multiple osteochondromasC9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal traffickingRecent advances in amyotrophic lateral sclerosisToward precision medicine in amyotrophic lateral sclerosisEmerging Roles of Filopodia and Dendritic Spines in Motoneuron Plasticity during Development and DiseaseGenotype-phenotype correlations of amyotrophic lateral sclerosisAlterations in stress granule dynamics driven by TDP-43 and FUS: a link to pathological inclusions in ALS?Clinical and genetic basis of familial amyotrophic lateral sclerosisState of play in amyotrophic lateral sclerosis geneticsSoluble axoplasm enriched from injured CNS axons reveals the early modulation of the actin cytoskeletonImpaired neurodevelopment by the low complexity domain of CPEB4 reveals a convergent pathway with neurodegeneration.A Case for Microtubule Vulnerability in Amyotrophic Lateral Sclerosis: Altered Dynamics During DiseaseEmerging mechanisms of molecular pathology in ALSCalcium dysregulation links ALS defective proteins and motor neuron selective vulnerabilityExploring new pathways of neurodegeneration in ALS: the role of mitochondria quality controlALS as a distal axonopathy: molecular mechanisms affecting neuromuscular junction stability in the presymptomatic stages of the diseaseIdentification of genetic modifiers of TDP-43 neurotoxicity in DrosophilaA dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominanceACTH (Acthar Gel) Reduces Toxic SOD1 Protein Linked to Amyotrophic Lateral Sclerosis in Transgenic Mice: A Novel ObservationThreonine 89 Is an Important Residue of Profilin-1 That Is Phosphorylatable by Protein Kinase AIntrinsic disorder in proteins involved in amyotrophic lateral sclerosis.Expression of ALS-linked TDP-43 mutant in astrocytes causes non-cell-autonomous motor neuron death in ratsDistinct partitioning of ALS associated TDP-43, FUS and SOD1 mutants into cellular inclusionsMutant PFN1 causes ALS phenotypes and progressive motor neuron degeneration in mice by a gain of toxicity.Sex-dependent effects of chromogranin B P413L allelic variant as disease modifier in amyotrophic lateral sclerosisProtein Quality Control and the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia ContinuumSpinal motor neuron protein supersaturation patterns are associated with inclusion body formation in ALS.Modelling amyotrophic lateral sclerosis: progress and possibilitiesWhole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohortShared mechanisms between Drosophila peripheral nervous system development and human neurodegenerative diseasesROCK inhibition as a therapy for spinal muscular atrophy: understanding the repercussions on multiple cellular targetsRac1 at the crossroad of actin dynamics and neuroinflammation in Amyotrophic Lateral Sclerosis.Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations.Functions of FUS/TLS from DNA repair to stress response: implications for ALS.Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.Genetic heterogeneity of amyotrophic lateral sclerosis: implications for clinical practice and research.Profilin 1 associates with stress granules and ALS-linked mutations alter stress granule dynamics.Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases.Genetic overlap between apparently sporadic motor neuron diseases.Conserved acidic amino acid residues in a second RNA recognition motif regulate assembly and function of TDP-43.
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P2860
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
description
2012 nî lūn-bûn
@nan
2012 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
name
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
@ast
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
@en
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
@nl
type
label
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
@ast
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
@en
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
@nl
prefLabel
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
@ast
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
@en
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
@nl
P2093
P2860
P50
P3181
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Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
@en
P2093
Andrew D Fox
Antonia Ratti
Ashley Lyn Leclerc
Chi-Hong Wu
Cinzia Tiloca
Daryl A Bosco
David B Goldstein
Desiree M Baron
Dev Mangroo
Franco Taroni
P2860
P2888
P304
P3181
P356
10.1038/NATURE11280
P407
P50
P577
2012-08-23T00:00:00Z
P5875
P6179
1006714859