Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis - Wikidata - awgldk - TriplyDB

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

http://www.wikidata.org/entity/Q24619298

about

Exome sequencing and functional analysis identifies a novel mutation in EXT1 gene that causes multiple osteochondromas C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking Recent advances in amyotrophic lateral sclerosis Toward precision medicine in amyotrophic lateral sclerosis Emerging Roles of Filopodia and Dendritic Spines in Motoneuron Plasticity during Development and Disease Genotype-phenotype correlations of amyotrophic lateral sclerosis Alterations 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 sclerosis State of play in amyotrophic lateral sclerosis genetics Soluble axoplasm enriched from injured CNS axons reveals the early modulation of the actin cytoskeleton Impaired 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 Disease Emerging mechanisms of molecular pathology in ALS Calcium dysregulation links ALS defective proteins and motor neuron selective vulnerability Exploring new pathways of neurodegeneration in ALS: the role of mitochondria quality control ALS as a distal axonopathy: molecular mechanisms affecting neuromuscular junction stability in the presymptomatic stages of the disease Identification of genetic modifiers of TDP-43 neurotoxicity in Drosophila A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance ACTH (Acthar Gel) Reduces Toxic SOD1 Protein Linked to Amyotrophic Lateral Sclerosis in Transgenic Mice: A Novel Observation Threonine 89 Is an Important Residue of Profilin-1 That Is Phosphorylatable by Protein Kinase A Intrinsic 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 rats Distinct partitioning of ALS associated TDP-43, FUS and SOD1 mutants into cellular inclusions Mutant 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 sclerosis Protein Quality Control and the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Continuum Spinal motor neuron protein supersaturation patterns are associated with inclusion body formation in ALS.Modelling amyotrophic lateral sclerosis: progress and possibilities Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort Shared mechanisms between Drosophila peripheral nervous system development and human neurodegenerative diseases ROCK inhibition as a therapy for spinal muscular atrophy: understanding the repercussions on multiple cellular targets Rac1 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

http://www.wikidata.org/entity/Q24619298

description

2012 nî lūn-bûn

@nan

2012 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2012 թվականի օգոստոսին հրատարակված գիտական հոդված

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2012年の論文

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

@zh-my

2012年学术文章

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2012年學術文章

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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

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Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

@en

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Andrew D Fox

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Antonia Ratti

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Ashley Lyn Leclerc

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Chi-Hong Wu

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Cinzia Tiloca

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Daryl A Bosco

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David B Goldstein

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Desiree M Baron

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Dev Mangroo

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Franco Taroni

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P2860

The essential role of profilin in the assembly of actin for microspike formation.

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

Phosphorylation of profilin by ROCK1 regulates polyglutamine aggregation

In mouse brain profilin I and profilin II associate with regulators of the endocytic pathway and actin assembly

A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

A map of human genome variation from population-scale sequencing

Exome sequencing reveals VCP mutations as a cause of familial ALS

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

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499-503

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scholarly article

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232627

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10.1038/NATURE11280

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7412

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488

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Elizabeth T Cirulli

Vincent Meininger

Diane McKenna-Yasek

Wilfried Rossoll

Vincenzo Silani

Claudia Fallini

Leonard H van den Berg

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2012-08-23T00:00:00Z

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229155681

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1006714859

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22801503

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amyotrophic lateral sclerosis

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3575525

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