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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: miramontes r. Nat Neurosci. 2025 Jan 6. doi: 10.1038/s41593-024-01850-w. Online ahead of print. Nat Neurosci. 2025. PMID: 39762660
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: miramontes r. 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.
The Neurolipid Atlas: a lipidomics resource for neurodegenerative diseases uncovers cholesterol as a regulator of astrocyte reactivity impaired by ApoE4.
Feringa FM, Hertog SJK, Wang L, Derks RJE, Kruijff I, Erlebach L, Heijneman J, Miramontes R, Pömpner N, Blomberg N, Olivier-Jimenez D, Johansen LE, Cammack AJ, Giblin A, Toomey CE, Rose IVL, Yuan H, Ward M, Isaacs AM, Kampmann M, Kronenberg-Versteeg D, Lashley T, Thompson LM, Ori A, Mohammed Y, Giera M, van der Kant R. Feringa FM, et al. Among authors: miramontes r. bioRxiv [Preprint]. 2024 Jul 3:2024.07.01.601474. doi: 10.1101/2024.07.01.601474. bioRxiv. 2024. PMID: 39005258 Free PMC article. Preprint.
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: miramontes r. bioRxiv [Preprint]. 2023 Nov 2:2023.10.31.565004. doi: 10.1101/2023.10.31.565004. bioRxiv. 2023. PMID: 37961595 Free PMC article. Preprint.
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: miramontes r. 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.
CryoET reveals organelle phenotypes in huntington disease patient iPSC-derived and mouse primary neurons.
Wu GH, Smith-Geater C, Galaz-Montoya JG, Gu Y, Gupte SR, Aviner R, Mitchell PG, Hsu J, Miramontes R, Wang KQ, Geller NR, Hou C, Danita C, Joubert LM, Schmid MF, Yeung S, Frydman J, Mobley W, Wu C, Thompson LM, Chiu W. Wu GH, et al. Among authors: miramontes r. Nat Commun. 2023 Feb 8;14(1):692. doi: 10.1038/s41467-023-36096-w. Nat Commun. 2023. PMID: 36754966 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: miramontes r. 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.
58 results