Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients

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Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients

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im September 2018 veröffentlichter wissenschaftlicher Artikel

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scientific article published on 03 May 2018

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wetenschappelijk artikel

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наукова стаття, опублікована у вересні 2018

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Senataxin mutations elicit mot ...... n ALS4 mice and human patients

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Senataxin mutations elicit mot ...... n ALS4 mice and human patients

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Senataxin mutations elicit mot ...... n ALS4 mice and human patients

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Senataxin mutations elicit mot ...... n ALS4 mice and human patients

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Senataxin mutations elicit mot ...... n ALS4 mice and human patients

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Senataxin mutations elicit mot ...... n ALS4 mice and human patients

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P1476

Senataxin mutations elicit mot ...... n ALS4 mice and human patients

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Albert R La Spada

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Bilal Malik

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Bryce L Sopher

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Changwoo Lee

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Christopher Grunseich

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Craig L Bennett

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Derek B Miller

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Linda Greensmith

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Mandheer Wadhwa

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Matthew B Mitchell

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P2860

The heritability of amyotrophic lateral sclerosis in a clinically ascertained United States research registry

Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping

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

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

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

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

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

P2888

s00401-018-1852-9

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425-443

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scholarly article

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10.1007/S00401-018-1852-9

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English

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136

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Don W Cleveland

M A van Es

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2018-05-03T00:00:00Z

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29725819

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6098723

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