ArticleRare diseases (Austin, Tex.)2016
Molecular mechanisms underlying Spinocerebellar Ataxia 17 (SCA17) pathogenesis.
Article in Rare diseases (Austin, Tex.), 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 33 citations in OpenAlex.
- Experimental Models to Study Polyglutamine Spinocerebellar Ataxias: From Mechanisms to Therapeutic Developments.Cerebellum (London, England) · 2026Review
- Suppression of Huntington's Disease Somatic Instability by Transcriptional Repression and Direct CAG Repeat Binding.Nature communications · 2025Article
- Molecular hallmarks of neurodegeneration in polyglutamine spinocerebellar ataxias.Cell death & disease · 2025Review
- Molecular Mechanisms of Spinocerebellar Ataxia Type 17.Molecular neurobiology · 2025Review
- Biallelic variants inBrain communications · 2025Article
- Review
- Spinocerebellar ataxias: from pathogenesis to recent therapeutic advances.Frontiers in neuroscience · 2024Review
- Functional implications of paralog genes in polyglutamine spinocerebellar ataxias.Human genetics · 2023Review
- Polyglutamine Ataxias: Our Current Molecular Understanding and What the Future Holds for Antisense Therapies.Biomedicines · 2021Review
- Frequency of spinocerebellar ataxia mutations in patients with multiple system atrophy.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2021Article
- Juvenile Huntington's Disease and Other PolyQ Diseases, Update on Neurodevelopmental Character and Comparative Bioinformatic Review of Transcriptomic and Proteomic Data.Frontiers in cell and developmental biology · 2021Review
- Chorea in children: etiology, diagnostic approach and management.Journal of neural transmission (Vienna, Austria : 1996) · 2020Review
- New Synthetic 3-Benzoyl-5-Hydroxy-2Oxidative medicine and cellular longevity · 2020Article
- Article
- Spinocerebellar ataxia: an update.Journal of neurology · 2019Review
- Ion channel dysfunction in cerebellar ataxia.Neuroscience letters · 2019Review
- Piperine ameliorates SCA17 neuropathology by reducing ER stress.Molecular neurodegeneration · 2018Article
- Polyglutamine spinocerebellar ataxias - from genes to potential treatments.Nature reviews. Neuroscience · 2017Review
- Synergistic Toxicity of Polyglutamine-Expanded TATA-Binding Protein in Glia and Neuronal Cells: Therapeutic Implications for Spinocerebellar Ataxia 17.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2017Article
- MANF regulates hypothalamic control of food intake and body weight.Nature communications · 2017Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 2 countries.
Funding
Abstract
Spinocerebellar ataxia 17 (SCA17) belongs to the family of 9 genetically inherited, late-onset neurodegenerative diseases, which are caused by polyglutamine (polyQ) expansion in different proteins. In SCA17, the polyQ expansion occurs in the TATA box binding protein (TBP), which functions as a general transcription factor. Patients with SCA17 suffer from a broad array of motor and non-motor defects, and their life expectancy is normally within 20 y after the initial appearance of symptoms. Currently there is no effective treatment, but remarkable efforts have been devoted to tackle this devastating disorder. In this review, we will summarize our current knowledge about the molecular mechanisms underlying the pathogenesis of SCA17, with a primary focus on transcriptional dysregulations. We believe that impaired transcriptional activities caused by mutant TBP with polyQ expansion is a major form of toxicity contributing to SCA17 pathogenesis, and rectifying the altered level of downstream transcripts represents a promising therapeutic approach for the treatment of SCA17.
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