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Page 1
Aberrant splicing in Huntington's disease via disrupted TDP-43 activity accompanied by altered m6A RNA modification.
Nguyen TB, Miramontes R, Chillon-Marinas C, Maimon R, Vazquez-Sanchez S, Lau AL, McClure NR, England WE, Singha M, Stocksdale JT, Jang KH, Jung S, McKnight JI, Ho LN, Faull RLM, Steffan JS, Reidling JC, Jang C, Lee G, Cleveland DW, Lagier-Tourenne C, Spitale RC, Thompson LM. Nguyen TB, et al. Among authors: mcclure nr. bioRxiv [Preprint]. 2023 Nov 2:2023.10.31.565004. doi: 10.1101/2023.10.31.565004. bioRxiv. 2023. PMID: 37961595 Free PMC article. Preprint.
Huntington disease oligodendrocyte maturation deficits revealed by single-nucleus RNAseq are rescued by thiamine-biotin supplementation.
Lim RG, Al-Dalahmah O, Wu J, Gold MP, Reidling JC, Tang G, Adam M, Dansu DK, Park HJ, Casaccia P, Miramontes R, Reyes-Ortiz AM, Lau A, Hickman RA, Khan F, Paryani F, Tang A, Ofori K, Miyoshi E, Michael N, McClure N, Flowers XE, Vonsattel JP, Davidson S, Menon V, Swarup V, Fraenkel E, Goldman JE, Thompson LM. Lim RG, et al. Nat Commun. 2022 Dec 21;13(1):7791. doi: 10.1038/s41467-022-35388-x. Nat Commun. 2022. PMID: 36543778 Free PMC article.
Single-nuclei transcriptome analysis of Huntington disease iPSC and mouse astrocytes implicates maturation and functional deficits.
Reyes-Ortiz AM, Abud EM, Burns MS, Wu J, Hernandez SJ, McClure N, Wang KQ, Schulz CJ, Miramontes R, Lau A, Michael N, Miyoshi E, Van Vactor D, Reidling JC, Blurton-Jones M, Swarup V, Poon WW, Lim RG, Thompson LM. Reyes-Ortiz AM, et al. iScience. 2022 Dec 6;26(1):105732. doi: 10.1016/j.isci.2022.105732. eCollection 2023 Jan 20. iScience. 2022. PMID: 36590162 Free PMC article.
Huntingtin contains an ubiquitin-binding domain and regulates lysosomal targeting of mitochondrial and RNA-binding proteins.
Fote GM, Eapen VV, Lim RG, Yu C, Salazar L, McClure NR, McKnight J, Nguyen TB, Heath MC, Lau AL, Villamil MA, Miramontes R, Kratter IH, Finkbeiner S, Reidling JC, Paulo JA, Kaiser P, Huang L, Housman DE, Thompson LM, Steffan JS. Fote GM, et al. Among authors: mcclure nr. Proc Natl Acad Sci U S A. 2024 Aug 6;121(32):e2319091121. doi: 10.1073/pnas.2319091121. Epub 2024 Jul 29. Proc Natl Acad Sci U S A. 2024. PMID: 39074279 Free PMC article.