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Amyotrophic lateral sclerosis: an update on recent genetic insights.

Amyotrophic lateral sclerosis: an update on recent genetic insights.

http://www.wikidata.org/entity/Q38148471

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Recent advances in amyotrophic lateral sclerosis Genotype-phenotype correlations of amyotrophic lateral sclerosis The Function of Autophagy in Neurodegenerative Diseases Clinical and genetic basis of familial amyotrophic lateral sclerosis C9orf72's Interaction with Rab GTPases-Modulation of Membrane Traffic and Autophagy Calcium dysregulation links ALS defective proteins and motor neuron selective vulnerability Legal but lethal: functional protein aggregation at the verge of toxicity Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation Assisting persons with advanced amyotrophic lateral sclerosis in their leisure engagement and communication needs with a basic technology-aided program.Sigma-1 receptor chaperones in neurodegenerative and psychiatric disorders The Sigma-1 Receptor as a Pluripotent Modulator in Living Systems.Evidence for fungal infection in cerebrospinal fluid and brain tissue from patients with amyotrophic lateral sclerosis.Rare variants at 16p11.2 are associated with common variable immunodeficiency Regenerative cellular therapies for neurologic diseases Structural analysis of disease-related TDP-43 D169G mutation: linking enhanced stability and caspase cleavage efficiency to protein accumulation.The Association between C9orf72 Repeats and Risk of Alzheimer's Disease and Amyotrophic Lateral Sclerosis: A Meta-Analysis.A critical role of Hrd1 in the regulation of optineurin degradation and aggresome formation.Could Sirtuin Activities Modify ALS Onset and Progression?Copy Number Variations in Amyotrophic Lateral Sclerosis: Piecing the Mosaic Tiles Together through a Systems Biology Approach.Label-Free LC-MS/MS Proteomic Analysis of Cerebrospinal Fluid Identifies Protein/Pathway Alterations and Candidate Biomarkers for Amyotrophic Lateral Sclerosis The heat shock response in neurons and astroglia and its role in neurodegenerative diseases.Cognitive dysfunction in hereditary spastic paraplegias and other motor neuron disorders.Matrin3 binds directly to intronic pyrimidine-rich sequences and controls alternative splicing.A basic technology-aided programme for leisure and communication of persons with advanced amyotrophic lateral sclerosis: performance and social rating.A chemical chaperone-based drug candidate is effective in a mouse model of amyotrophic lateral sclerosis (ALS).G protein-coupled receptor 26 immunoreactivity in intranuclear inclusions associated with polyglutamine and intranuclear inclusion body diseases.Exome sequencing uncovers hidden pathways in familial and sporadic ALS.Preclinical progression of neurodegenerative diseases

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Amyotrophic lateral sclerosis: an update on recent genetic insights.

http://www.wikidata.org/entity/Q38148471

description

2013 թվականի հոկտեմբերի 2-ին հրատարակված գիտական հոդված

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article científic

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article scientifique

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articol științific

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articolo scientifico

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artigo científico

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artigo científico

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artigo científico

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artikel ilmiah

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artikull shkencor

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name

Amyotrophic lateral sclerosis: an update on recent genetic insights.

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type

label

Amyotrophic lateral sclerosis: an update on recent genetic insights.

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prefLabel

Amyotrophic lateral sclerosis: an update on recent genetic insights.

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S00415-013-7112-Y

P1433

Journal of Neurology

P1476

Amyotrophic lateral sclerosis: an update on recent genetic insights.

@en

P2093

Kensuke Ikenaka

http://www.w3.org/2001/XMLSchema#string

Masahisa Katsuno

http://www.w3.org/2001/XMLSchema#string

Shinsuke Ishigaki

http://www.w3.org/2001/XMLSchema#string

Yohei Iguchi

http://www.w3.org/2001/XMLSchema#string

P2860

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

Optineurin links myosin VI to the Golgi complex and is involved in Golgi organization and exocytosis

Ataxin-2 interacts with the DEAD/H-box RNA helicase DDX6 and interferes with P-bodies and stress granules

The mammalian phosphatidylinositol 3-phosphate 5-kinase (PIKfyve) regulates endosome-to-TGN retrograde transport.

Phosphorylation of the autophagy receptor optineurin restricts Salmonella growth

TDP43 is a human low molecular weight neurofilament (hNFL) mRNA-binding protein

Ubiquilin functions in autophagy and is degraded by chaperone-mediated autophagy

A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis

Optineurin negatively regulates TNFalpha- induced NF-kappaB activation by competing with NEMO for ubiquitinated RIP

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

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s00415-013-7112-y

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2917-2927

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10.1007/S00415-013-7112-Y

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11

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260

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2013-10-02T00:00:00Z

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1008654030

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24085347

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amyotrophic lateral sclerosis