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Year Number of Results
1988 1
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340 results

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Page 1
Polyglutamine (PolyQ) diseases: genetics to treatments.
Fan HC, Ho LI, Chi CS, Chen SJ, Peng GS, Chan TM, Lin SZ, Harn HJ. Fan HC, et al. Cell Transplant. 2014;23(4-5):441-58. doi: 10.3727/096368914X678454. Cell Transplant. 2014. PMID: 24816443 Free article. Review.
To date, a total of nine polyQ disorders have been described: six spinocerebellar ataxias (SCA) types 1, 2, 6, 7, 17; Machado-Joseph disease (MJD/SCA3); Huntington's disease (HD); dentatorubral pallidoluysian atrophy (DRPLA); and spinal and bulbar muscular atrophy, X-linke …
To date, a total of nine polyQ disorders have been described: six spinocerebellar ataxias (SCA) types 1, 2, 6, 7, 17; Machado-Joseph disease …
Spinocerebellar ataxias.
Soong BW, Morrison PJ. Soong BW, et al. Handb Clin Neurol. 2018;155:143-174. doi: 10.1016/B978-0-444-64189-2.00010-X. Handb Clin Neurol. 2018. PMID: 29891056 Review.
In this chapter we delineate the phenotypes of SCAs 1-44 and dentatorubral-pallidoluysian atrophy (DRPLA) and highlight the clinical and genetic features of the well characterised SCAs in detail in the main section of the chapter, along with their frequency and age at onse …
In this chapter we delineate the phenotypes of SCAs 1-44 and dentatorubral-pallidoluysian atrophy (DRPLA) and highlight the clinical …
Pathogenesis of SCA3 and implications for other polyglutamine diseases.
McLoughlin HS, Moore LR, Paulson HL. McLoughlin HS, et al. Neurobiol Dis. 2020 Feb;134:104635. doi: 10.1016/j.nbd.2019.104635. Epub 2019 Oct 24. Neurobiol Dis. 2020. PMID: 31669734 Free PMC article. Review.
The nine known polyQ disease include Huntington's disease (HD), dentatorubral-pallidoluysian atrophy (DRPLA), spinal bulbar muscular atrophy (SBMA), and six spinocerebellar ataxias (SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17). ...
The nine known polyQ disease include Huntington's disease (HD), dentatorubral-pallidoluysian atrophy (DRPLA), spinal bulbar muscular …
Atrophin-1 Function and Dysfunction in Dentatorubral-Pallidoluysian Atrophy.
Nowak B, Kozlowska E, Pawlik W, Fiszer A. Nowak B, et al. Mov Disord. 2023 Apr;38(4):526-536. doi: 10.1002/mds.29355. Epub 2023 Feb 21. Mov Disord. 2023. PMID: 36809552 Review.
It is characterized by cerebellar ataxia, myoclonus, epilepsy, dementia, and chorea. DRPLA is caused by dynamic mutation of CAG repeat expansion in ATN1 gene encoding the atrophin-1 protein. ...There is a great need to design efficient therapy that wou …
It is characterized by cerebellar ataxia, myoclonus, epilepsy, dementia, and chorea. DRPLA is caused by dynamic mutation of CAG repea …
Polyglutamine pathogenesis.
Ross CA, Wood JD, Schilling G, Peters MF, Nucifora FC Jr, Cooper JK, Sharp AH, Margolis RL, Borchelt DR. Ross CA, et al. Philos Trans R Soc Lond B Biol Sci. 1999 Jun 29;354(1386):1005-11. doi: 10.1098/rstb.1999.0452. Philos Trans R Soc Lond B Biol Sci. 1999. PMID: 10434299 Free PMC article. Review.
Further experiments with huntingtin constructs harbouring exogenous nuclear import and nuclear export signals have implicated the nucleus in direct cell toxicity. We have made mouse models of HD and DRPLA using an N-terminal truncation of huntingtin (N171) and full-length …
Further experiments with huntingtin constructs harbouring exogenous nuclear import and nuclear export signals have implicated the nucleus in …
Trinucleotide repeat disorders.
Den Dunnen WFA. Den Dunnen WFA. Handb Clin Neurol. 2017;145:383-391. doi: 10.1016/B978-0-12-802395-2.00027-4. Handb Clin Neurol. 2017. PMID: 28987184 Review.
Pathological accumulation of atrophin-1 in dentatorubralpallidoluysian atrophy.
Suzuki Y, Yazawa I. Suzuki Y, et al. Int J Clin Exp Pathol. 2011 Apr;4(4):378-84. Epub 2011 Apr 25. Int J Clin Exp Pathol. 2011. PMID: 21577324 Free PMC article. Review.
Dentatorubral-pallidoluysian atrophy (DRPLA) is caused by the expansion of polyglutamine (polyQ) in atrophin-1 (ATN1), also known as DRPLA protein. ...Recently, cleaved fragments of ATN1 were shown to accumulate in the disease models and …
Dentatorubral-pallidoluysian atrophy (DRPLA) is caused by the expansion of polyglutamine (polyQ) in atrophin-1 (ATN1 …
Studying polyglutamine diseases in Drosophila.
Xu Z, Tito AJ, Rui YN, Zhang S. Xu Z, et al. Exp Neurol. 2015 Dec;274(Pt A):25-41. doi: 10.1016/j.expneurol.2015.08.002. Epub 2015 Aug 6. Exp Neurol. 2015. PMID: 26257024 Free PMC article. Review.
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 …
Genetic cerebellar ataxias.
Storey E. Storey E. Semin Neurol. 2014 Jul;34(3):280-92. doi: 10.1055/s-0034-1386766. Epub 2014 Sep 5. Semin Neurol. 2014. PMID: 25192506 Review.
However, at least half of dominant ataxias (SCAs) are caused by (CAG)n repeat expansions resulting in expanded polyglutamine tracts (SCAs 1, 2, 3, 6, 7, 17, and DRPLA), although of the remainder only SCAs 8, 10, 12, 14, 15/16, and 31 are frequent enough that the described …
However, at least half of dominant ataxias (SCAs) are caused by (CAG)n repeat expansions resulting in expanded polyglutamine tracts (SCAs 1, …
340 results