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2019 9
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Page 1
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 …
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
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 …
Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia.
Henden L, Fearnley LG, Grima N, McCann EP, Dobson-Stone C, Fitzpatrick L, Friend K, Hobson L, Chan Moi Fat S, Rowe DB, D'Silva S, Kwok JB, Halliday GM, Kiernan MC, Mazumder S, Timmins HC, Zoing M, Pamphlett R, Adams L, Bahlo M, Blair IP, Williams KL. Henden L, et al. Sci Adv. 2023 May 5;9(18):eade2044. doi: 10.1126/sciadv.ade2044. Epub 2023 May 5. Sci Adv. 2023. PMID: 37146135 Free PMC article.
We identified and validated 162 disease-relevant STR expansions in C9orf72 (ALS/FTD), ATXN1 [spinal cerebellar ataxia type 1 (SCA1)], ATXN2 (SCA2), ATXN8 (SCA8), TBP (SCA17), HTT (Huntington's disease), DMPK [myotonic dystrophy type 1 (DM1)], CNBP (DM2), and FMR1 (fragile- …
We identified and validated 162 disease-relevant STR expansions in C9orf72 (ALS/FTD), ATXN1 [spinal cerebellar ataxia type 1 (SCA1)], …
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 …
HD and SCA1: Tales from two 30-year journeys since gene discovery.
Thompson LM, Orr HT. Thompson LM, et al. Neuron. 2023 Nov 15;111(22):3517-3530. doi: 10.1016/j.neuron.2023.09.036. Epub 2023 Oct 19. Neuron. 2023. PMID: 37863037 Review.
Importantly, the respective affected proteins, Huntingtin (HTT, HD) and Ataxin 1 (ATXN1, SCA1), have unique functions and biological properties. ...
Importantly, the respective affected proteins, Huntingtin (HTT, HD) and Ataxin 1 (ATXN1, SCA1), have unique functions a …
UTteR control through miRs: fine-tuning ATXN1 levels to prevent ataxia.
Xie M, Swanson MS. Xie M, et al. Genes Dev. 2020 Sep 1;34(17-18):1107-1109. doi: 10.1101/gad.343020.120. Genes Dev. 2020. PMID: 32873576 Free PMC article. Review.
Another striking example of this mutant and WT duality is spinocerebellar ataxia type 1 (SCA1) caused by an ATXN1 polyglutamine protein, although subtle variations in WT AXTN1 levels also lead to ataxia. In this issue of Genes & Development, Nitschke and colleagues (pp …
Another striking example of this mutant and WT duality is spinocerebellar ataxia type 1 (SCA1) caused by an ATXN1 polyglutamine prote …
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 …
SRSF10 inhibits biogenesis of circ-ATXN1 to regulate glioma angiogenesis via miR-526b-3p/MMP2 pathway.
Liu X, Shen S, Zhu L, Su R, Zheng J, Ruan X, Shao L, Wang D, Yang C, Liu Y. Liu X, et al. J Exp Clin Cancer Res. 2020 Jun 29;39(1):121. doi: 10.1186/s13046-020-01625-8. J Exp Clin Cancer Res. 2020. PMID: 32600379 Free PMC article.
Knockdown of SRSF10 or circ-ATXN1 significantly inhibited cell viability, migration and tube formation of GECs where knockdown of SRSF10 exerted its function by inhibiting the formation of circ-ATXN1. Moreover, the combined knockdown of SRSF10 and circ-ATXN1 …
Knockdown of SRSF10 or circ-ATXN1 significantly inhibited cell viability, migration and tube formation of GECs where knockdown of SRS …
miR760 regulates ATXN1 levels via interaction with its 5' untranslated region.
Nitschke L, Tewari A, Coffin SL, Xhako E, Pang K, Gennarino VA, Johnson JL, Blanco FA, Liu Z, Zoghbi HY. Nitschke L, et al. Genes Dev. 2020 Sep 1;34(17-18):1147-1160. doi: 10.1101/gad.339317.120. Epub 2020 Aug 6. Genes Dev. 2020. PMID: 32763910 Free PMC article.
Identifying modifiers of dosage-sensitive genes involved in neurodegenerative disorders is imperative to discover novel genetic risk factors and potential therapeutic entry points. In this study, we focus on Ataxin-1 (ATXN1), a dosage-sensitive gene involved …
Identifying modifiers of dosage-sensitive genes involved in neurodegenerative disorders is imperative to discover novel genetic risk factors …
Autistic-like behavior and cerebellar dysfunction in Bmal1 mutant mice ameliorated by mTORC1 inhibition.
Liu D, Nanclares C, Simbriger K, Fang K, Lorsung E, Le N, Amorim IS, Chalkiadaki K, Pathak SS, Li J, Gewirtz JC, Jin VX, Kofuji P, Araque A, Orr HT, Gkogkas CG, Cao R. Liu D, et al. Mol Psychiatry. 2023 Sep;28(9):3727-3738. doi: 10.1038/s41380-022-01499-6. Epub 2022 Mar 17. Mol Psychiatry. 2023. PMID: 35301425 Free PMC article.
Differential expression of ASD- and ataxia-associated genes (Ntng2, Mfrp, Nr4a2, Thbs1, Atxn1, and Atxn3) and dysregulated pathways of translational control, including hyperactivated mammalian target of rapamycin complex 1 (mTORC1) signaling, were identified in the cerebel …
Differential expression of ASD- and ataxia-associated genes (Ntng2, Mfrp, Nr4a2, Thbs1, Atxn1, and Atxn3) and dysregulated pathways o …
52 results