Associated Papers
Sen1 architecture: RNA-DNA hybrid resolution, autoregulation, and insights into SETX inactivation in AOA2.
Appel CD et al.
Molecular Cell, 2023
Ataxia with oculomotor apraxia type 2 caused by a novel homozygous mutation in SETX gene, and literature review.
Chen S et al.
Frontiers in Molecular Neuroscience, 2022
Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein.
Mariani LL et al.
Scientific Reports, 2017
29127364 (PubMed )
Supplement: 41598_2017_15127_MOESM1_ESM.doc
Sen1 has unique structural features grafted on the architecture of the Upf1-like helicase family.
Leonaitė B et al.
The Embo Journal, 2017
28408439 (PubMed )
Supplement: EMBJ-36-1590-s001.pdf
Saccharomyces cerevisiae Sen1 as a model for the study of mutations in human Senataxin that elicit cerebellar ataxia.
Chen X et al.
Genetics, 2014
The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases.
Arning L et al.
Neurogenetics, 2013
Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.
Anheim M et al.
Brain : a Journal of Neurology, 2009
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