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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: reidling jc. bioRxiv [Preprint]. 2023 Nov 2:2023.10.31.565004. doi: 10.1101/2023.10.31.565004. bioRxiv. 2023. Update in: Nat Neurosci. 2025 Jan 6. doi: 10.1038/s41593-024-01850-w PMID: 37961595 Free PMC article. Updated. Preprint.
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: reidling jc. 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.
Aberrant splicing in Huntington's disease accompanies disrupted TDP-43 activity and altered m6A RNA modification.
Nguyen TB, Miramontes R, Chillon-Marinas C, Maimon R, Vazquez-Sanchez S, Lau AL, McClure NR, Wu Z, Wang KQ, England WE, Singha M, Stocksdale JT, Heath M, Jang KH, Jung S, Ling K, Jafar-Nejad P, McKnight JI, Ho LN, Dalahmah OA, 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: reidling jc. Nat Neurosci. 2025 Jan 6. doi: 10.1038/s41593-024-01850-w. Online ahead of print. Nat Neurosci. 2025. PMID: 39762660
Transplanted human neural stem cells rescue phenotypes in zQ175 Huntington's disease mice and innervate the striatum.
Holley SM, Reidling JC, Cepeda C, Wu J, Lim RG, Lau A, Moore C, Miramontes R, Fury B, Orellana I, Neel M, Coleal-Bergum D, Monuki ES, Bauer G, Meshul CK, Levine MS, Thompson LM. Holley SM, et al. Among authors: reidling jc. Mol Ther. 2023 Dec 6;31(12):3545-3563. doi: 10.1016/j.ymthe.2023.10.003. Epub 2023 Oct 7. Mol Ther. 2023. PMID: 37807512 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. Among authors: reidling jc. 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.
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. Among authors: reidling jc. Nat Commun. 2022 Dec 21;13(1):7791. doi: 10.1038/s41467-022-35388-x. Nat Commun. 2022. PMID: 36543778 Free PMC article.
Huntington's disease mice and human brain tissue exhibit increased G3BP1 granules and TDP43 mislocalization.
Sanchez II, Nguyen TB, England WE, Lim RG, Vu AQ, Miramontes R, Byrne LM, Markmiller S, Lau AL, Orellana I, Curtis MA, Faull RLM, Yeo GW, Fowler CD, Reidling JC, Wild EJ, Spitale RC, Thompson LM. Sanchez II, et al. Among authors: reidling jc. J Clin Invest. 2021 Jun 15;131(12):e140723. doi: 10.1172/JCI140723. J Clin Invest. 2021. PMID: 33945510 Free PMC article.
34 results