Associated Papers
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
Senataxin and R-loops homeostasis: multifaced implications in carcinogenesis.
Gatti V et al.
Cell Death Discovery, 2023
ΔNp63-Senataxin circuit controls keratinocyte differentiation by promoting the transcriptional termination of epidermal genes.
Gatti V et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
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
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
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
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
Select a paper to view details