DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4) - Test2 - elhamkhani - TriplyDB

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)

http://www.wikidata.org/entity/Q24533845

about

Out of balance: R-loops in human disease Sporadic ALS is not associated with VAPB gene mutations in Southern Italy Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.Human senataxin resolves RNA/DNA hybrids formed at transcriptional pause sites to promote Xrn2-dependent termination Protein interaction analysis of senataxin and the ALS4 L389S mutant yields insights into senataxin post-translational modification and uncovers mutant-specific binding with a brain cytoplasmic RNA-encoded peptide Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1)Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation A SUMO-dependent interaction between Senataxin and the exosome, disrupted in the neurodegenerative disease AOA2, targets the exosome to sites of transcription-induced DNA damage Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia Integrative analysis of the melanoma transcriptome Insulin-like growth factor-I for the treatment of amyotrophic lateral sclerosis Toward precision medicine in amyotrophic lateral sclerosis Genotype-phenotype correlations of amyotrophic lateral sclerosis A comprehensive review of amyotrophic lateral sclerosis Clinical and genetic basis of familial amyotrophic lateral sclerosis Molecular motor proteins and amyotrophic lateral sclerosis Breaking bad: R-loops and genome integrity Replication and transcription on a collision course: eukaryotic regulation mechanisms and implications for DNA stability Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis State of play in amyotrophic lateral sclerosis genetics The function of RNA-binding proteins at the synapse: implications for neurodegeneration The Ighmbp2 helicase structure reveals the molecular basis for disease-causing mutations in DMSA1 The DNA Damage Response: Making It Safe to Play with Knives Sen1, the yeast homolog of human senataxin, plays a more direct role than Rad26 in transcription coupled DNA repair Sen1p contributes to genomic integrity by regulating expression of ribonucleotide reductase 1 (RNR1) in Saccharomyces cerevisiae.Senataxin associates with replication forks to protect fork integrity across RNA-polymerase-II-transcribed genes.Saccharomyces cerevisiae Sen1 Helicase Domain Exhibits 5'- to 3'-Helicase Activity with a Preference for Translocation on DNA Rather than RNA Role of NMDA Receptor-Mediated Glutamatergic Signaling in Chronic and Acute Neuropathologies Calcium dysregulation links ALS defective proteins and motor neuron selective vulnerability RNA Exosome Regulates AID DNA Mutator Activity in the B Cell Genome The complex molecular biology of amyotrophic lateral sclerosis (ALS)Excitotoxicity and ALS: what is unique about the AMPA receptors expressed on spinal motor neurons?Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis RNA processing and its regulation: global insights into biological networks Amyotrophic lateral sclerosis: an emerging era of collaborative gene discovery miRNA malfunction causes spinal motor neuron disease.Senataxin, defective in the neurodegenerative disorder ataxia with oculomotor apraxia 2, lies at the interface of transcription and the DNA damage response.

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DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)

http://www.wikidata.org/entity/Q24533845

description

2004 nî lūn-bûn

@nan

2004 թուականի Յունիսին հրատարակուած գիտական յօդուած

@hyw

2004 թվականի հունիսին հրատարակված գիտական հոդված

@hy

2004年の論文

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2004年学术文章

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2004年学术文章

@zh-cn

2004年学术文章

@zh-hans

2004年学术文章

@zh-my

2004年学术文章

@zh-sg

2004年學術文章

@yue

name

DNA/RNA helicase gene mutation ...... ophic lateral sclerosis (ALS4)

@ast

DNA/RNA helicase gene mutation ...... ophic lateral sclerosis (ALS4)

@en

DNA/RNA helicase gene mutation ...... ophic lateral sclerosis (ALS4)

@nl

type

label

DNA/RNA helicase gene mutation ...... ophic lateral sclerosis (ALS4)

@ast

DNA/RNA helicase gene mutation ...... ophic lateral sclerosis (ALS4)

@en

DNA/RNA helicase gene mutation ...... ophic lateral sclerosis (ALS4)

@nl

prefLabel

DNA/RNA helicase gene mutation ...... ophic lateral sclerosis (ALS4)

@ast

DNA/RNA helicase gene mutation ...... ophic lateral sclerosis (ALS4)

@en

DNA/RNA helicase gene mutation ...... ophic lateral sclerosis (ALS4)

@nl

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American Journal of Human Genetics

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DNA/RNA helicase gene mutation ...... ophic lateral sclerosis (ALS4)

@en

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Annette Abel

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

Bruce A Rabin

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Craig L Bennett

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David R Cornblath

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Garth A Nicholson

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Huy M Huynh

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Ian P Blair

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Imke Puls

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

John W Griffin

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

Kenneth H Fischbeck

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

P2860

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34.

A functional interaction between the survival motor neuron complex and RNA polymerase II

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

Characterization of a nuclear 20S complex containing the survival of motor neurons (SMN) protein and a specific subset of spliceosomal Sm proteins

The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene

The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin

Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

DExD/H box RNA helicases: from generic motors to specific dissociation functions

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1128-35

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scholarly article

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1706258

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10.1086/421054

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6

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74

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Michaela Auer-Grumbach

Peter De Jonghe

Vincent Timmerman

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2004-06-01T00:00:00Z

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8599131

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amyotrophic lateral sclerosis

juvenile amyotrophic lateral sclerosis

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1182077

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