Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Developing a disease-specific accessible transcriptional signature as a biomarker for ataxia with oculomotor apraxia type 2.
Ngo KJ et al.
Molecular Medicine (cambridge, Mass.), 2025
Senataxin deficiency disrupts proteostasis through nucleolar ncRNA-driven protein aggregation.
Wen X et al.
The Journal of Cell Biology, 2024
Senataxin: A key actor in RNA metabolism, genome integrity and neurodegeneration.
Giannini M et al.
Biochimie, 2024
Sen1 architecture: RNA-DNA hybrid resolution, autoregulation, and insights into SETX inactivation in AOA2.
Appel CD et al.
Molecular Cell, 2023
Human senataxin is a bona fide R-loop resolving enzyme and transcription termination factor.
Hasanova Z et al.
Nucleic Acids Research, 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
Genetic and Epidemiological Study of Adult Ataxia and Spastic Paraplegia in Eastern Quebec.
Haj Salem I et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2021
Senataxin: Genome Guardian at the Interface of Transcription and Neurodegeneration.
Groh M et al.
Journal of Molecular Biology, 2017
Sen1 has unique structural features grafted on the architecture of the Upf1-like helicase family.
Leonaitė B et al.
The Embo Journal, 2017
Saccharomyces cerevisiae Sen1 as a model for the study of mutations in human Senataxin that elicit cerebellar ataxia.
Chen X et al.
Genetics, 2014
Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2.
Fogel BL et al.
Human Molecular Genetics, 2014
A new SETX mutation producing AOA2 in two siblings.
Datta N et al.
The International Journal of Neuroscience, 2013
The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases.
Arning L et al.
Neurogenetics, 2013
Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin.
Airoldi G et al.
Neurogenetics, 2010
RNA processing defects associated with diseases of the motor neuron.
Kolb SJ et al.
Muscle & Nerve, 2010
Ataxia-oculomotor apraxia 2 patients show no increased sensitivity to ionizing radiation.
Nahas SA et al.
Neuromuscular Disorders : Nmd, 2007
In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome.
Bassuk AG et al.
Neurogenetics, 2007
Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population.
Dupré N et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2006
Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy.
Duquette A et al.
Annals of Neurology, 2005