Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. (Q34295566)

1 August 2017

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. (English)

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Paula Coutinho

Paula Coutinho

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Jorge Sequeiros

Jorge Sequeiros

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Giovanni Stevanin

Giovanni Stevanin

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Jörg B. Schulz

Jörg B Schulz

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Eimear Dunne

Eimear Dunne

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Clara Barbot

Clara Barbot

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Christine Tranchant

Christine Tranchant

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Alexandra Durr

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Alexandra Dürr

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Christopher E Shaw

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Jean Pouget

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Patrick Calvas

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Isabelle Le Ber

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Massimo Pandolfo

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Meriem Tazir

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Traki Benhassine

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Naïma Bouslam

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Michel Koenig

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Maria-Céu Moreira

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Sandra Klur

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Mitsunori Watanabe

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Andrea H Németh

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José-Carlos Moniz

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Patrick Aubourg

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Lüdger Schöls

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Masami Shizuka-Ikeda

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Mikio Shoji

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Makoto Tanaka

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Louise Izatt

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Abderrahim M'Zahem

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Pascale Bomont

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João Guimarães

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Pedro Mendonça

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Jean-Marie Warter

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language of work or name

English

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publication date

8 February 2004

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225-227

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3

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https://scigraph.springernature.com/pub.10.1038/ng1303

1 August 2017

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cites work

Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23.

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Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, gamma-globulin, and alpha-fetoprotein.

21 January 2018

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21 January 2018

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The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder

21 January 2018

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Helicases: amino acid sequence comparisons and structure-function relationships

21 January 2018

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The yeast SEN1 gene is required for the processing of diverse RNA classes

21 January 2018

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The putative nucleic acid helicase Sen1p is required for formation and stability of termini and for maximal rates of synthesis and levels of accumulation of small nucleolar RNAs in Saccharomyces cerevisiae

21 January 2018

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The sen1(+) gene of Schizosaccharomyces pombe, a homologue of budding yeast SEN1, encodes an RNA and DNA helicase

21 January 2018

1 reference

The role of Upf proteins in modulating the translation read-through of nonsense-containing transcripts

21 January 2018

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

21 January 2018

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Identification of the mouse neuromuscular degeneration gene and mapping of a second site suppressor allele.

21 January 2018

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Isolation of cDNA encoding a binding protein specific to 5'-phosphorylated single-stranded DNA with G-rich sequences

21 January 2018

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

21 January 2018

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Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1038/NG1303

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1 August 2017

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