Associated Papers
Genetic commonalities between rare subtypes of ALS and CMT: insights into molecular mechanisms of neurodegeneration.
Aynaashe A et al.
Amino Acids, 2026
Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.
Yuan L et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
Senataxin: A key actor in RNA metabolism, genome integrity and neurodegeneration.
Giannini M et al.
Biochimie, 2024
Role of Senataxin in Amyotrophic Lateral Sclerosis.
Tsui A et al.
Journal of Molecular Neuroscience : Mn, 2023
Sen1 architecture: RNA-DNA hybrid resolution, autoregulation, and insights into SETX inactivation in AOA2.
Appel CD et al.
Molecular Cell, 2023
Senataxin helicase, the causal gene defect in ALS4, is a significant modifier of C9orf72 ALS G4C2 and arginine-containing dipeptide repeat toxicity.
Bennett CL et al.
Acta Neuropathologica Communications, 2023
An autopsy case of sporadic, adult-onset amyotrophic lateral sclerosis with heterozygous p.N1935S SETX gene variant.
Nakamura M et al.
Journal of Neuropathology and Experimental Neurology, 2023
Human senataxin is a bona fide R-loop resolving enzyme and transcription termination factor.
Hasanova Z et al.
Nucleic Acids Research, 2023
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.
McCann EP et al.
Journal of Neuromuscular Diseases, 2023
Unraveling the impact of disrupted nucleocytoplasmic transport systems in C9orf72-associated ALS.
McGoldrick P et al.
Frontiers in Cellular Neuroscience, 2023
Modelling amyotrophic lateral sclerosis in rodents.
Todd TW et al.
Nature Reviews. Neuroscience, 2022
R-loop Mediated DNA Damage and Impaired DNA Repair in Spinal Muscular Atrophy.
Cuartas J et al.
Frontiers in Cellular Neuroscience, 2022
Biological networks and complexity in early-onset motor neuron diseases.
Butchbach MER et al.
Frontiers in Neurology, 2022
De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy.
Hadjinicolaou A et al.
Acta Neuropathologica Communications, 2021
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
Nearly 30 Years of Animal Models to Study Amyotrophic Lateral Sclerosis: A Historical Overview and Future Perspectives.
Bonifacino T et al.
International Journal of Molecular Sciences, 2021
Unusual electrophysiological findings in a Chinese ALS 4 family with SETX-L389S mutation: a three-year follow-up.
Lei L et al.
Journal of Neurology, 2021
Destination Amyotrophic Lateral Sclerosis.
Keon M et al.
Frontiers in Neurology, 2021
Molecular and Cellular Mechanisms Affected in ALS.
Le Gall L et al.
Journal of Personalized Medicine, 2020
[A case of motor and sensory polyneuropathy and respiratory failure with novel heterozygous mutation of the senataxin gene].
Kitao R et al.
Rinsho Shinkeigaku = Clinical Neurology, 2020
Clinical and Molecular Aspects of Senataxin Mutations in Amyotrophic Lateral Sclerosis 4.
Grunseich C et al.
Annals of Neurology, 2020
Gene expression analysis reveals early dysregulation of disease pathways and links Chmp7 to pathogenesis of spinal and bulbar muscular atrophy.
Malik B et al.
Scientific Reports, 2019
Combined deficiency of Senataxin and DNA-PKcs causes DNA damage accumulation and neurodegeneration in spinal muscular atrophy.
Kannan A et al.
Nucleic Acids Research, 2018
Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients.
Bennett CL et al.
Acta Neuropathologica, 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
Senataxin: Genome Guardian at the Interface of Transcription and Neurodegeneration.
Groh M et al.
Journal of Molecular Biology, 2017
High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis.
Tripolszki K et al.
Brain and Behavior, 2017
Human Senataxin Modulates Structural Plasticity of the Neuromuscular Junction in Drosophila through a Neuronally Conserved TGFβ Signalling Pathway.
Mushtaq Z et al.
Neuro-degenerative Diseases, 2016
Mutation analysis of patients with neurodegenerative disorders using NeuroX array.
Ghani M et al.
Neurobiology of Aging, 2015
Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.
Yamashita S et al.
Translational Neurodegeneration, 2015
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
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
Inflammatory radiculoneuropathy in an ALS4 patient with a novel SETX mutation.
Saiga T et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2012
SETX gene mutation in a family diagnosed autosomal dominant proximal spinal muscular atrophy.
Rudnik-Schöneborn S et al.
Neuromuscular Disorders : Nmd, 2012
Senataxin modulates neurite growth through fibroblast growth factor 8 signalling.
Vantaggiato C et al.
Brain : a Journal of Neurology, 2011
Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression.
Avemaria F et al.
Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 2011
RNA processing defects associated with diseases of the motor neuron.
Kolb SJ et al.
Muscle & Nerve, 2010
Aberrant splicing of the senataxin gene in a patient with ataxia with oculomotor apraxia type 2.
Fogel BL et al.
Cerebellum (london, England), 2009
A novel mutation in the senataxin gene identified in a Chinese patient with sporadic amyotrophic lateral sclerosis.
Zhao ZH et al.
Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 2009
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.
Dierick I et al.
Brain : a Journal of Neurology, 2008
In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome.
Bassuk AG et al.
Neurogenetics, 2007
New autosomal recessive cerebellar ataxias with oculomotor apraxia.
Le Ber I et al.
Current Neurology and Neuroscience Reports, 2005
Molecular and cellular pathways of neurodegeneration in motor neurone disease.
Shaw PJ
Journal of Neurology, Neurosurgery, and Psychiatry, 2005
Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy.
Duquette A et al.
Annals of Neurology, 2005
Complex genetics of amyotrophic lateral sclerosis.
Kunst CB
American Journal of Human Genetics, 2004
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).
Chen YZ et al.
American Journal of Human Genetics, 2004