Associated Papers
Senataxin: A key actor in RNA metabolism, genome integrity and neurodegeneration.
Giannini M et al.
Biochimie, 2024
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
SUMOylated Senataxin functions in genome stability, RNA degradation, and stress granule disassembly, and is linked with inherited ataxia and motor neuron disease.
Bennett CL et al.
Molecular Genetics & Genomic Medicine, 2021
Nuclear mRNA Surveillance Mechanisms: Function and Links to Human Disease.
Singh P et al.
Journal of Molecular Biology, 2018
Senataxin, A Novel Helicase at the Interface of RNA Transcriptome Regulation and Neurobiology: From Normal Function to Pathological Roles in Motor Neuron Disease and Cerebellar Degeneration.
Bennett CL et al.
Advances in Neurobiology, 2018
SETX sumoylation: A link between DNA damage and RNA surveillance disrupted in AOA2.
Richard P et al.
Rare Diseases (austin, Tex.), 2014
The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases.
Arning L et al.
Neurogenetics, 2013
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.
Bennett CL et al.
Plos One, 2013
Clinical and molecular findings of ataxia with oculomotor apraxia type 2 (AOA2) in 5 Tunisian families.
Hammer MB et al.
Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B, 2012
Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin.
Airoldi G et al.
Neurogenetics, 2010
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
Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients.
Tazir M et al.
Journal of the Neurological Sciences, 2009
In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome.
Bassuk AG et al.
Neurogenetics, 2007
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
Moreira MC et al.
Nature Genetics, 2004
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