Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2 - Archive ouverte HAL Access content directly
Journal Articles Nature Genetics Year : 2004

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

Abderrahim M'Zahem
  • Function : Author

Abstract

Ataxia-ocular apraxia 2 (AOA2) was recently identified as a new autosomal recessive ataxia. We have now identified causative mutations in 15 families, which allows us to clinically define this entity by onset between 10 and 22 years, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia and elevated alpha-fetoprotein (AFP). Ten of the fifteen mutations cause premature termination of a large DEAxQ-box helicase, the human ortholog of yeast Sen1p, involved in RNA maturation and termination.

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Genetics

Dates and versions

hal-04138405 , version 1 (22-06-2023)

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Maria-Céu Moreira, Sandra Klur, Mitsunori Watanabe, Andrea H. Németh, Isabelle Le Ber, et al.. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nature Genetics, 2004, 36 (3), pp.225-227. ⟨10.1038/ng1303⟩. ⟨hal-04138405⟩
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