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Page 1
Showing results for htt ep
Search for Htut EP instead (3 results)
Huntington disease.
Bates GP, Dorsey R, Gusella JF, Hayden MR, Kay C, Leavitt BR, Nance M, Ross CA, Scahill RI, Wetzel R, Wild EJ, Tabrizi SJ. Bates GP, et al. Nat Rev Dis Primers. 2015 Apr 23;1:15005. doi: 10.1038/nrdp.2015.5. Nat Rev Dis Primers. 2015. PMID: 27188817 Review.
The disease is caused by an expanded CAG trinucleotide repeat (of variable length) in HTT, the gene that encodes the protein huntingtin. In mutation carriers, huntingtin is produced with abnormally long polyglutamine sequences that confer toxic gains of function and predis …
The disease is caused by an expanded CAG trinucleotide repeat (of variable length) in HTT, the gene that encodes the protein huntingt …
Clinical Features of Huntington's Disease.
Ghosh R, Tabrizi SJ. Ghosh R, et al. Adv Exp Med Biol. 2018;1049:1-28. doi: 10.1007/978-3-319-71779-1_1. Adv Exp Med Biol. 2018. PMID: 29427096 Review.
Since the discovery of the gene over 20 years ago much progress has been made in HD research, and although there are currently no disease-modifying treatments available, there are a number of exciting potential therapeutic developments in the pipeline. In this chapter we discuss …
Since the discovery of the gene over 20 years ago much progress has been made in HD research, and although there are currently no disease-mo …
Four-Month Rifapentine Regimens with or without Moxifloxacin for Tuberculosis.
Dorman SE, Nahid P, Kurbatova EV, Phillips PPJ, Bryant K, Dooley KE, Engle M, Goldberg SV, Phan HTT, Hakim J, Johnson JL, Lourens M, Martinson NA, Muzanyi G, Narunsky K, Nerette S, Nguyen NV, Pham TH, Pierre S, Purfield AE, Samaneka W, Savic RM, Sanne I, Scott NA, Shenje J, Sizemore E, Vernon A, Waja Z, Weiner M, Swindells S, Chaisson RE; AIDS Clinical Trials Group; Tuberculosis Trials Consortium. Dorman SE, et al. N Engl J Med. 2021 May 6;384(18):1705-1718. doi: 10.1056/NEJMoa2033400. N Engl J Med. 2021. PMID: 33951360 Free PMC article. Clinical Trial.
Huntington's Disease Pathogenesis: Two Sequential Components.
Hong EP, MacDonald ME, Wheeler VC, Jones L, Holmans P, Orth M, Monckton DG, Long JD, Kwak S, Gusella JF, Lee JM. Hong EP, et al. J Huntingtons Dis. 2021;10(1):35-51. doi: 10.3233/JHD-200427. J Huntingtons Dis. 2021. PMID: 33579862 Free PMC article. Review.
This discovery set off a multitude of similar studies in other diseases, while the HD gene, later renamed HTT, and its vicinity in chromosome 4p16.3 then acted as a proving ground for development of technologies to clone and sequence genes based upon their genomic location …
This discovery set off a multitude of similar studies in other diseases, while the HD gene, later renamed HTT, and its vicinity in ch …
Targeting Huntingtin Expression in Patients with Huntington's Disease.
Tabrizi SJ, Leavitt BR, Landwehrmeyer GB, Wild EJ, Saft C, Barker RA, Blair NF, Craufurd D, Priller J, Rickards H, Rosser A, Kordasiewicz HB, Czech C, Swayze EE, Norris DA, Baumann T, Gerlach I, Schobel SA, Paz E, Smith AV, Bennett CF, Lane RM; Phase 1–2a IONIS-HTTRx Study Site Teams. Tabrizi SJ, et al. N Engl J Med. 2019 Jun 13;380(24):2307-2316. doi: 10.1056/NEJMoa1900907. Epub 2019 May 6. N Engl J Med. 2019. PMID: 31059641 Clinical Trial.
BACKGROUND: Huntington's disease is an autosomal-dominant neurodegenerative disease caused by CAG trinucleotide repeat expansion in HTT, resulting in a mutant huntingtin protein. IONIS-HTT(Rx) (hereafter, HTT(Rx)) is an antisense oligonucleotide designed to i …
BACKGROUND: Huntington's disease is an autosomal-dominant neurodegenerative disease caused by CAG trinucleotide repeat expansion in HTT …
Exon 1-targeting miRNA reduces the pathogenic exon 1 HTT protein in Huntington's disease models.
Sogorb-Gonzalez M, Landles C, Caron NS, Stam A, Osborne G, Hayden MR, Howland D, van Deventer S, Bates GP, Vallès A, Evers M. Sogorb-Gonzalez M, et al. Brain. 2024 Dec 3;147(12):4043-4055. doi: 10.1093/brain/awae266. Brain. 2024. PMID: 39155061 Free PMC article.
This finding suggests that reducing the expression of HTT1a might achieve a greater therapeutic benefit than targeting only FL mutant HTT. Conversely, strategies that exclusively target FL HTT might not completely prevent the pathogenesis of HD. ...These results dem …
This finding suggests that reducing the expression of HTT1a might achieve a greater therapeutic benefit than targeting only FL mutant HTT …
Machine learning applications in cancer prognosis and prediction.
Kourou K, Exarchos TP, Exarchos KP, Karamouzis MV, Fotiadis DI. Kourou K, et al. Comput Struct Biotechnol J. 2014 Nov 15;13:8-17. doi: 10.1016/j.csbj.2014.11.005. eCollection 2015. Comput Struct Biotechnol J. 2014. PMID: 25750696 Free PMC article. Review.
A Huntingtin Knockin Pig Model Recapitulates Features of Selective Neurodegeneration in Huntington's Disease.
Yan S, Tu Z, Liu Z, Fan N, Yang H, Yang S, Yang W, Zhao Y, Ouyang Z, Lai C, Yang H, Li L, Liu Q, Shi H, Xu G, Zhao H, Wei H, Pei Z, Li S, Lai L, Li XJ. Yan S, et al. Cell. 2018 May 3;173(4):989-1002.e13. doi: 10.1016/j.cell.2018.03.005. Epub 2018 Mar 29. Cell. 2018. PMID: 29606351 Free PMC article.
Using CRISPR/Cas9 and somatic nuclear transfer technology, we established a knockin (KI) pig model of HD that endogenously expresses full-length mutant huntingtin (HTT). By breeding this HD pig model, we have successfully obtained F1 and F2 generation KI pigs. ...
Using CRISPR/Cas9 and somatic nuclear transfer technology, we established a knockin (KI) pig model of HD that endogenously expresses full-le …
Left Atrial Appendage Occlusion during Cardiac Surgery to Prevent Stroke.
Whitlock RP, Belley-Cote EP, Paparella D, Healey JS, Brady K, Sharma M, Reents W, Budera P, Baddour AJ, Fila P, Devereaux PJ, Bogachev-Prokophiev A, Boening A, Teoh KHT, Tagarakis GI, Slaughter MS, Royse AG, McGuinness S, Alings M, Punjabi PP, Mazer CD, Folkeringa RJ, Colli A, Avezum Á, Nakamya J, Balasubramanian K, Vincent J, Voisine P, Lamy A, Yusuf S, Connolly SJ; LAAOS III Investigators. Whitlock RP, et al. N Engl J Med. 2021 Jun 3;384(22):2081-2091. doi: 10.1056/NEJMoa2101897. Epub 2021 May 15. N Engl J Med. 2021. PMID: 33999547 Clinical Trial.
Preclinical evaluation of stereopure antisense oligonucleotides for allele-selective lowering of mutant HTT.
Iwamoto N, Liu Y, Frank-Kamenetsky M, Maguire A, Tseng WC, Taborn K, Kothari N, Akhtar A, Bowman K, Shelke JD, Lamattina A, Hu XS, Jang HG, Kandasamy P, Liu F, Longo K, Looby R, Meena, Metterville J, Pan Q, Purcell-Estabrook E, Shimizu M, Prakasha PS, Standley S, Upadhyay H, Yang H, Yin Y, Zhao A, Francis C, Byrne M, Dale E, Verdine GL, Vargeese C. Iwamoto N, et al. Mol Ther Nucleic Acids. 2024 Jun 11;35(3):102246. doi: 10.1016/j.omtn.2024.102246. eCollection 2024 Sep 10. Mol Ther Nucleic Acids. 2024. PMID: 39027419 Free PMC article.
Huntington's disease (HD) is an autosomal dominant disease caused by the expansion of cytosine-adenine-guanine (CAG) repeats in one copy of the HTT gene (mutant HTT, mHTT). The unaffected HTT gene encodes wild-type HTT (wtHTT) protein, which supports p …
Huntington's disease (HD) is an autosomal dominant disease caused by the expansion of cytosine-adenine-guanine (CAG) repeats in one copy of …
310 results