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Molecular Mechanisms of Spinocerebellar Ataxia Type 17.
Davidenko A, Bogomazova A, Illarioshkin S, Lagarkova M. Davidenko A, et al. Mol Neurobiol. 2025 May;62(5):5720-5729. doi: 10.1007/s12035-024-04645-z. Epub 2024 Nov 30. Mol Neurobiol. 2025. PMID: 39614971 Review.
At present, there is no effective treatment for SCA17, and existing therapies provide only symptomatic relief. While the exact pathogenic mechanisms of SCA17 remain unclear, the TBP mutation affects a well-characterized transcription factor, making it an ideal model …
At present, there is no effective treatment for SCA17, and existing therapies provide only symptomatic relief. While the exact pathog …
A Review of Spinocerebellar Ataxias in Taiwan.
Lee CJ, Liu CS; Society for Neurological Rare Disorders-Taiwan. Lee CJ, et al. Acta Neurol Taiwan. 2025 Apr 1;34(2):55-63. doi: 10.4103/ANT.ANT_113_0057. Epub 2025 Jun 5. Acta Neurol Taiwan. 2025. PMID: 40471914 Review.
Among the SCAs caused by tandem repeats, polyglutamine SCAs, including SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17, are prevalent in Taiwan and worldwide. Other SCAs caused by non-CAG tandem repeats that have been investigated in Taiwan include SCA8, SCA12, SCA31, and SCA36. . …
Among the SCAs caused by tandem repeats, polyglutamine SCAs, including SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17, are prevalent in Taiw …
Isolated Generalized Chorea in a Patient with Small-Expanded Allele Spinocerebellar Ataxia 17.
Paparella G, De Riggi M, Aloisio S, Martini A, Angelini L, Birreci D, Costa D, Cannavacciuolo A, Griguoli AM, Gambardella S, Bologna M. Paparella G, et al. Cerebellum. 2025 Jun 6;24(4):110. doi: 10.1007/s12311-025-01868-1. Cerebellum. 2025. PMID: 40478462
BACKGROUND: Spinocerebellar ataxia type 17 (SCA17) is an autosomal dominant disease caused by a polyglutamine-encoding CAG/CAA repeat expansion within the TATA box-binding protein (TBP) gene. ...CONCLUSION: The present case report provides further insight into the small-ex …
BACKGROUND: Spinocerebellar ataxia type 17 (SCA17) is an autosomal dominant disease caused by a polyglutamine-encoding CAG/CAA repeat …
RNA-seq analysis of wild-type and mutated TBPL1 gene in breast cancer cells lines through CRISPR/Cas9 approach reveals novel molecular signatures.
Mishal R, Meléndez-Zajgla J, Rueda-Zarazúa B, Labra-Barrios ML, Castañón-Sánchez CA, Uribe Carvajal S, Padierna-Mota L, Hernández-Hernández JM, Leon-Avila G, Pérez Rangel A, Hernández-Martínez E, Angeles-Morales EB, Albalawi IK, Luna-Arias JP. Mishal R, et al. Sci Rep. 2025 Oct 28;15(1):37578. doi: 10.1038/s41598-025-11634-2. Sci Rep. 2025. PMID: 41152284 Free PMC article.