Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS). - Test2 - elhamkhani - TriplyDB

Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS).

Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS).

http://www.wikidata.org/entity/Q33749062

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The genetics and neuropathology of frontotemporal lobar degeneration Genotype-phenotype correlations of amyotrophic lateral sclerosis Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia Ultrastructural studies of ALS mitochondria connect altered function and permeability with defects of mitophagy and mitochondriogenesis Mouse models of frontotemporal dementia Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis State of play in amyotrophic lateral sclerosis genetics Differentiating lower motor neuron syndromes Frontotemporal dementia: a bridge between dementia and neuromuscular disease Autophagosome dynamics in neurodegeneration at a glance Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons Amyotrophic lateral sclerosis, gene deregulation in the anterior horn of the spinal cord and frontal cortex area 8: implications in frontotemporal lobar degeneration Protein Homeostasis in Amyotrophic Lateral Sclerosis: Therapeutic Opportunities?Deregulated expression of cytoskeleton related genes in the spinal cord and sciatic nerve of presymptomatic SOD1(G93A) Amyotrophic Lateral Sclerosis mouse model.Amyotrophic lateral sclerosis patient iPSC-derived astrocytes impair autophagy via non-cell autonomous mechanisms.The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement.The emerging roles of microRNAs in the pathogenesis of frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) spectrum disorders Pathogenic role of BECN1/Beclin 1 in the development of amyotrophic lateral sclerosis.Biosignatures for Parkinson's disease and atypical parkinsonian disorders patients.Genetic overlap between apparently sporadic motor neuron diseases.Population-specific regulation of Chmp2b by Lbx1 during onset of synaptogenesis in lateral association interneurons.Alterations in microRNA-124 and AMPA receptors contribute to social behavioral deficits in frontotemporal dementia.Regulation of autophagy by mTOR-dependent and mTOR-independent pathways: autophagy dysfunction in neurodegenerative diseases and therapeutic application of autophagy enhancers.Downregulation of microRNA-9 in iPSC-derived neurons of FTD/ALS patients with TDP-43 mutations.A network of RNA and protein interactions in Fronto Temporal Dementia.Rab8, POSH, and TAK1 regulate synaptic growth in a Drosophila model of frontotemporal dementia Motor and Sensory Deficits in the teetering Mice Result from Mutation of the ESCRT Component HGS Neuronal Functions of ESCRTs Lysosomal and phagocytic activity is increased in astrocytes during disease progression in the SOD1 (G93A) mouse model of amyotrophic lateral sclerosis.Significant expansion of the REST/NRSF cistrome in human versus mouse embryonic stem cells: potential implications for neural development Cause or Effect: Misregulation of microRNA Pathways in Neurodegeneration.Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.Potential contribution of exosomes to the prion-like propagation of lesions in Alzheimer's disease.The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum α-Synuclein interferes with the ESCRT-III complex contributing to the pathogenesis of Lewy body disease.Transcriptome Profiling Following Neuronal and Glial Expression of ALS-Linked SOD1 in Drosophila.The wobbler mouse, an ALS animal model.The Enemy within: Innate Surveillance-Mediated Cell Death, the Common Mechanism of Neurodegenerative Disease.Genetics of amyotrophic lateral sclerosis: an update.Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15

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Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS).

http://www.wikidata.org/entity/Q33749062

description

2010 nî lūn-bûn

@nan

2010 թուականի Մարտին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի մարտին հրատարակված գիտական հոդված

@hy

2010年の論文

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2010年論文

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2010年論文

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2010年論文

@zh-hk

2010年論文

@zh-mo

2010年論文

@zh-tw

2010年论文

@wuu

name

Mutations in CHMP2B in lower m ...... ophic lateral sclerosis (ALS).

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Mutations in CHMP2B in lower m ...... ophic lateral sclerosis (ALS).

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type

label

Mutations in CHMP2B in lower m ...... ophic lateral sclerosis (ALS).

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Mutations in CHMP2B in lower m ...... ophic lateral sclerosis (ALS).

@en

prefLabel

Mutations in CHMP2B in lower m ...... ophic lateral sclerosis (ALS).

@ast

Mutations in CHMP2B in lower m ...... ophic lateral sclerosis (ALS).

@en

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JOURNAL.PONE.0009872

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Mutations in CHMP2B in lower m ...... ophic lateral sclerosis (ALS).

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Adrian Higginbottom

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

Alice Brockington

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Christine E Burness

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Hannah C Hollinger

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Judith A Hartley

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Karen E Morrison

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

Laura E Cox

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

Paul R Heath

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

Stephen B Wharton

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

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Guidelines for the use and interpretation of assays for monitoring autophagy in higher eukaryotes

The mTOR/PI3K and MAPK pathways converge on eIF4B to control its phosphorylation and activity

ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)

A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.

Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

The Vps4p AAA ATPase regulates membrane association of a Vps protein complex required for normal endosome function

Phosphorylation of eucaryotic translation initiation factor 4B Ser422 is modulated by S6 kinases

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

DAVID: Database for Annotation, Visualization, and Integrated Discovery

Use1p is a yeast SNARE protein required for retrograde traffic to the ER.

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e9872

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scholarly article

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10.1371/JOURNAL.PONE.0009872

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3

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5

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Laura Ferraiuolo

Emily F. Goodall

Andrew Grierson

Heather Mortiboys

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2010-03-24T00:00:00Z

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42639898

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20352044

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amyotrophic lateral sclerosis

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2844426

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