ArticleNeurogenetics2007
In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome.
Article in Neurogenetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
28 citing papers in PubMed, 51 citations in OpenAlex.
- Role of senataxin in R-loop-mediated neurodegeneration.Brain communications · 2024Review
- Yeast Models of Amyotrophic Lateral Sclerosis Type 8 Mimic Phenotypes Seen in Mammalian Cells Expressing Mutant VAPBBiomolecules · 2023Article
- The Intersection Between Cerebellar Ataxia and Neuropathy: a Proposed Classification and a Diagnostic Approach.Cerebellum (London, England) · 2022Review
- A Novel SETX Mutation in a Taiwanese Patient with Autosomal Recessive Cerebellar Ataxia Detected by Targeted Next-Generation Sequencing, and a Literature Review.Brain sciences · 2022Article
- Integrated genome and transcriptome analyses reveal the mechanism of genome instability in ataxia with oculomotor apraxia 2.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Biallelic Mutation ofJournal of pediatric genetics · 2021Article
- Clinical and Molecular Aspects of Senataxin Mutations in Amyotrophic Lateral Sclerosis 4.Annals of neurology · 2020Article
- R-Loops in Motor Neuron Diseases.Molecular neurobiology · 2019Review
- Progressive Ataxia with Elevated Alpha-Fetoprotein: Diagnostic Issues and Review of the Literature.Tremor and other hyperkinetic movements (New York, N.Y.) · 2019Review
- A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2.Journal of clinical neurology (Seoul, Korea) · 2018Article
- Using variant databases for variant prioritization and to detect erroneous genotype-phenotype associations.BMC bioinformatics · 2017Article
- R Loops and Links to Human Disease.Journal of molecular biology · 2017Review
- Ataxia.Neurologic clinics · 2015Review
- Pseudodominant AOA2.Cerebellum & ataxias · 2015Article
- Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2.Human molecular genetics · 2014Article
- Article
- SETX sumoylation: A link between DNA damage and RNA surveillance disrupted in AOA2.Rare diseases (Austin, Tex.) · 2014Article
- SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.Orphanet journal of rare diseases · 2013Article
- The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases.Neurogenetics · 2013Article
- Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
Senataxin mutations are the molecular basis of two distinct syndromes: (1) ataxia oculomotor apraxia type 2 (AOA2) and (2) juvenile amyotrophic lateral sclerosis 4 (ALS4). The authors describe clinical and molecular genetic studies of mother and daughter who display symptoms of cerebellar ataxia/atrophy, oculomotor defects, and tremor. Both patients share Senataxin mutations N603D and Q653K in cis (N603D-Q653K), adjacent to an N-terminal domain thought to function in protein-protein interaction. The N-terminal and helicase domains appear to harbor missense mutation clusters associated with AOA2 and ALS4. Working synergistically, the N603D-Q653K mutations may confer a partial dominant negative effect, acting on the senataxin N-terminal, further expanding the phenotypic spectrum associated with Senataxin mutations.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.