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Page 1
Antagonistic roles of canonical and Alternative-RPA in disease-associated tandem CAG repeat instability.
Gall-Duncan T, Luo J, Jurkovic CM, Fischer LA, Fujita K, Deshmukh AL, Harding RJ, Tran S, Mehkary M, Li V, Leib DE, Chen R, Tanaka H, Mason AG, Lévesque D, Khan M, Razzaghi M, Prasolava T, Lanni S, Sato N, Caron MC, Panigrahi GB, Wang P, Lau R, Castel AL, Masson JY, Tippett L, Turner C, Spies M, La Spada AR, Campos EI, Curtis MA, Boisvert FM, Faull RLM, Davidson BL, Nakamori M, Okazawa H, Wold MS, Pearson CE. Gall-Duncan T, et al. Cell. 2023 Oct 26;186(22):4898-4919.e25. doi: 10.1016/j.cell.2023.09.008. Epub 2023 Oct 11. Cell. 2023. PMID: 37827155 Free PMC article.
RPA overexpression in SCA1 mouse brains ablates expansions, coincident with decreased ATXN1 aggregation, reduced brain DNA damage, improved neuron morphology, and rescued motor phenotypes. ...
RPA overexpression in SCA1 mouse brains ablates expansions, coincident with decreased ATXN1 aggregation, reduced brain DNA damage, im …
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.
Ibañez K, Polke J, Hagelstrom RT, Dolzhenko E, Pasko D, Thomas ERA, Daugherty LC, Kasperaviciute D, Smith KR; WGS for Neurological Diseases Group; Deans ZC, Hill S, Fowler T, Scott RH, Hardy J, Chinnery PF, Houlden H, Rendon A, Caulfield MJ, Eberle MA, Taft RJ, Tucci A; Genomics England Research Consortium. Ibañez K, et al. Lancet Neurol. 2022 Mar;21(3):234-245. doi: 10.1016/S1474-4422(21)00462-2. Lancet Neurol. 2022. PMID: 35182509 Free PMC article.
METHODS: We retrospectively assessed the diagnostic accuracy of whole genome sequencing to detect the most common repeat expansion loci associated with neurological outcomes (AR, ATN1, ATXN1, ATXN2, ATXN3, ATXN7, C9orf72, CACNA1A, DMPK, FMR1, FXN, HTT, and TBP) using sampl …
METHODS: We retrospectively assessed the diagnostic accuracy of whole genome sequencing to detect the most common repeat expansion loci asso …
Evaluating the expression pattern of ATXN1 and CDC42EP1 genes and related long noncoding RNAs in oral squamous cell carcinoma.
Hajisadeghi S, Rafiei M, Tahmasebi E, Khafaei M. Hajisadeghi S, et al. Mol Biol Rep. 2024 Jul 13;51(1):796. doi: 10.1007/s11033-024-09719-8. Mol Biol Rep. 2024. PMID: 39002033
The present study evaluated the expression level of ATXN1 CDC42EP1 genes and the lncRNAs related to these genes (lnc-ATXN1L, lnc-ATXN1, lnc-ATXN10, and lnc-CDC42EP1) in paraffin blocks of oral and pharyngeal squamous cell carcinoma (SCC) samples from patients referr …
The present study evaluated the expression level of ATXN1 CDC42EP1 genes and the lncRNAs related to these genes (lnc-ATXN1L, lnc-A …
Expanded ATXN1 alters transcription and calcium signaling in SCA1 human motor neurons differentiated from induced pluripotent stem cells.
Sheeler C, Labrada E, Duvick L, Thompson LM, Zhang Y, Orr HT, Cvetanovic M. Sheeler C, et al. Neurobiol Dis. 2024 Oct 15;201:106673. doi: 10.1016/j.nbd.2024.106673. Epub 2024 Sep 20. Neurobiol Dis. 2024. PMID: 39307401 Free PMC article.
Spinocerebellar ataxia type 1 (SCA1) is a dominantly inherited and lethal neurodegenerative disease caused by the abnormal expansion of CAG repeats in the ATAXIN-1 (ATXN1) gene. Pathological studies identified dysfunction and loss of motor neurons (MNs) in th …
Spinocerebellar ataxia type 1 (SCA1) is a dominantly inherited and lethal neurodegenerative disease caused by the abnormal expansion of CAG …
Generation of induced pluripotent stem cell(iPSC)line CJUHi001-A derived peripheral blood mononuclear cells of spinocerebellar ataxia type 1(SCA1) the CAG repeat mutation in ATXN1 gene.
Jin Y, Nan G. Jin Y, et al. Stem Cell Res. 2023 Feb;66:102975. doi: 10.1016/j.scr.2022.102975. Epub 2022 Nov 14. Stem Cell Res. 2023. PMID: 36459834 Free article.
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by CAG repeat mutations in the ATXN1 gene. In this study, we generated an induced pluripotent stem cell line (iPSC) by using non-integrating Sendai virus (SeV) from peripheral b …
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by CAG repeat mutations in the ATXN1 …
Novel ATXN1/ATXN1L::NUTM2A fusions identified in aggressive infant sarcomas with gene expression and methylation patterns similar to CIC-rearranged sarcoma.
Xu F, Viaene AN, Ruiz J, Schubert J, Wu J, Chen J, Cao K, Fu W, Bagatell R, Fan Z, Long A, Pagliaroli L, Zhong Y, Luo M, Kreiger PA, Surrey LF, Wertheim GB, Cole KA, Li MM, Santi M, Storm PB. Xu F, et al. Acta Neuropathol Commun. 2022 Jul 14;10(1):102. doi: 10.1186/s40478-022-01401-z. Acta Neuropathol Commun. 2022. PMID: 35836290 Free PMC article.
Retrospective IHC staining on case 2 demonstrated ETV4 and WT1 overexpression. ATXN1 and ATXN1L interact with CIC forming a transcription repressor complex. We propose that ATXN1/ATXN1L-associated fusions disrupt their interaction with CIC and decrease the transcrip …
Retrospective IHC staining on case 2 demonstrated ETV4 and WT1 overexpression. ATXN1 and ATXN1L interact with CIC forming a transcrip …
Epigenetic control of ataxin-1 in multiple sclerosis.
Ma Q, Oksenberg JR, Didonna A. Ma Q, et al. Ann Clin Transl Neurol. 2022 Aug;9(8):1186-1194. doi: 10.1002/acn3.51618. Epub 2022 Jul 28. Ann Clin Transl Neurol. 2022. PMID: 35903875 Free PMC article.
OBJECTIVE: ATXN1 encodes the polyglutamine protein ataxin-1, which we have demonstrated exerting an immunomodulatory function in the context of central nervous system (CNS) autoimmunity, in addition to its classical role in the neurodegenerative disorder spin …
OBJECTIVE: ATXN1 encodes the polyglutamine protein ataxin-1, which we have demonstrated exerting an immunomodulatory fu …
Genetic variability in sporadic amyotrophic lateral sclerosis.
Van Daele SH, Moisse M, van Vugt JJFA, Zwamborn RAJ, van der Spek R, van Rheenen W, Van Eijk K, Kenna K, Corcia P, Vourc'h P, Couratier P, Hardiman O, McLaughin R, Gotkine M, Drory V, Ticozzi N, Silani V, Ratti A, de Carvalho M, Mora Pardina JS, Povedano M, Andersen PM, Weber M, Başak NA, Shaw C, Shaw PJ, Morrison KE, Landers JE, Glass JD, van Es MA, van den Berg LH, Al-Chalabi A, Veldink J, Van Damme P. Van Daele SH, et al. Brain. 2023 Sep 1;146(9):3760-3769. doi: 10.1093/brain/awad120. Brain. 2023. PMID: 37043475 Free PMC article.
In addition, we determined the length of repeat expansions in C9orf72, ATXN1, ATXN2 and NIPA1 using the ExpansionHunter tool. We found C9orf72 repeat expansions in 5.21% of sALS patients. ...Significantly more cases carried at least one pathogenic or likely pathogenic vari …
In addition, we determined the length of repeat expansions in C9orf72, ATXN1, ATXN2 and NIPA1 using the ExpansionHunter tool. We foun …
Identification of Splicing Regulatory Activity of ATXN1 and Its Associated Domains.
Ohki A, Kato M, Aoki Y, Kubokawa A, Yanaizu M, Kino Y. Ohki A, et al. Biomolecules. 2025 May 28;15(6):782. doi: 10.3390/biom15060782. Biomolecules. 2025. PMID: 40563422 Free PMC article.
The expansion of the polyglutamine tract in ATXN1 contributes to the pathogenesis of SCA1. ATXN1 functions as a transcriptional regulator that interacts with multiple transcription factors, and transcriptional dysregulation has been observed in SCA1. ...Here, we dem …
The expansion of the polyglutamine tract in ATXN1 contributes to the pathogenesis of SCA1. ATXN1 functions as a transcriptiona …
Amyotrophic lateral sclerosis and cerebellum.
Kabiljo R, Iacoangeli A, Al-Chalabi A, Rosenzweig I. Kabiljo R, et al. Sci Rep. 2022 Jul 22;12(1):12586. doi: 10.1038/s41598-022-16772-5. Sci Rep. 2022. PMID: 35869263 Free PMC article.
Recently, repeat expansions in several genes in which variants appreciably contribute to cerebellar pathology, including C9orf72, NIPA1, ATXN2 and ATXN1, have been found to confer a significant risk for ALS. To better define this relationship, we performed MAGMA gene-based …
Recently, repeat expansions in several genes in which variants appreciably contribute to cerebellar pathology, including C9orf72, NIPA1, ATX …
55 results