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
Allele-specific silencing of a dominant SETX mutation in familial amyotrophic lateral sclerosis type 4.
Winkelsas A et al.
Hgg Advances, 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
Rare Diseases, Spotlighting Amyotrophic Lateral Sclerosis, Huntington's Disease, and Myasthenia Gravis: Insights from Landscape Analysis of Current Research.
Iyer KA et al.
Biochemistry, 2025
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
Th17 and effector CD8 T cells relate to disease progression in amyotrophic lateral sclerosis: a case control study.
Itou T et al.
Journal of Neuroinflammation, 2024
Allele-specific silencing of a dominant SETX mutation in familial amyotrophic lateral sclerosis type 4.
Winkelsas A et al.
Biorxiv : the Preprint Server for Biology, 2024
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 2024
Senataxin: A key actor in RNA metabolism, genome integrity and neurodegeneration.
Giannini M et al.
Biochimie, 2024
Role of senataxin in R-loop-mediated neurodegeneration.
Kannan A et al.
Brain Communications, 2024
Role of Senataxin in Amyotrophic Lateral Sclerosis.
Tsui A et al.
Journal of Molecular Neuroscience : Mn, 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
Senataxin and R-loops homeostasis: multifaced implications in carcinogenesis.
Gatti V et al.
Cell Death Discovery, 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
Altered SYNJ2BP-mediated mitochondrial-ER contacts in motor neuron disease.
Pourshafie N et al.
Neurobiology of Disease, 2022
Mutation in senataxin alters the mechanism of R-loop resolution in amyotrophic lateral sclerosis 4.
Kannan A et al.
Brain : a Journal of Neurology, 2022
Clonally expanded CD8 T cells characterize amyotrophic lateral sclerosis-4.
Campisi L et al.
Nature, 2022
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
The expanding genetic landscape of hereditary motor neuropathies.
Beijer D et al.
Brain : a Journal of Neurology, 2020
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
Tight expression regulation of senataxin, linked to motor neuron disease and ataxia, is required to avert cell-cycle block and nucleolus disassembly.
Bennett CL et al.
Heliyon, 2020
Clinical and Molecular Aspects of Senataxin Mutations in Amyotrophic Lateral Sclerosis 4.
Grunseich C et al.
Annals of Neurology, 2020
Splicing and neurodegeneration: Insights and mechanisms.
Nik S et al.
Wiley Interdisciplinary Reviews. Rna, 2019
Genetic analysis of neurodegenerative diseases in a pathology cohort.
Blauwendraat C et al.
Neurobiology of Aging, 2019
A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2.
Tariq H et al.
Journal of Clinical Neurology (seoul, Korea), 2018
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 Mutation Reveals How R-Loops Promote Transcription by Blocking DNA Methylation at Gene Promoters.
Grunseich C et al.
Molecular Cell, 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
High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis.
Tripolszki K et al.
Brain and Behavior, 2017
Mutation analysis of patients with neurodegenerative disorders using NeuroX array.
Ghani M et al.
Neurobiology of Aging, 2015