Ruepp MD - Search Results

1

Mimicking hypomethylation of FUS requires liquid-liquid phase separation to induce synaptic dysfunctions.

Kim SC, Mitchell SJ, Qamar S, Whitcomb DJ, Ruepp MD, St George-Hyslop P, Cho K. Kim SC, et al. Among authors: ruepp md. Acta Neuropathol Commun. 2023 Dec 18;11(1):199. doi: 10.1186/s40478-023-01703-w. Acta Neuropathol Commun. 2023. PMID: 38105257 Free PMC article.

2

Mutations in FUS lead to synaptic dysregulation in ALS-iPSC derived neurons.

Shum C, Hedges EC, Allison J, Lee YB, Arias N, Cocks G, Chandran S, Ruepp MD, Shaw CE, Nishimura AL. Shum C, et al. Among authors: ruepp md. Stem Cell Reports. 2024 Feb 13;19(2):187-195. doi: 10.1016/j.stemcr.2023.12.007. Epub 2024 Jan 18. Stem Cell Reports. 2024. PMID: 38242131 Free PMC article.

3

Combined RNA interference and gene replacement therapy targeting MFN2 as proof of principle for the treatment of Charcot-Marie-Tooth type 2A.

Rizzo F, Bono S, Ruepp MD, Salani S, Ottoboni L, Abati E, Melzi V, Cordiglieri C, Pagliarani S, De Gioia R, Anastasia A, Taiana M, Garbellini M, Lodato S, Kunderfranco P, Cazzato D, Cartelli D, Lonati C, Bresolin N, Comi G, Nizzardo M, Corti S. Rizzo F, et al. Among authors: ruepp md. Cell Mol Life Sci. 2023 Nov 25;80(12):373. doi: 10.1007/s00018-023-05018-w. Cell Mol Life Sci. 2023. PMID: 38007410 Free PMC article.

4

G-quadruplexes control hepatitis B virus replication by promoting cccDNA transcription and phase separation in hepatocytes.

Giraud G, Rodà M, Huchon P, Michelet M, Maadadi S, Jutzi D, Montserret R, Ruepp MD, Parent R, Combet C, Zoulim F, Testoni B. Giraud G, et al. Among authors: ruepp md. Nucleic Acids Res. 2024 Mar 21;52(5):2290-2305. doi: 10.1093/nar/gkad1200. Nucleic Acids Res. 2024. PMID: 38113270 Free PMC article.

5

P2X₇R influences tau aggregate burden in human tauopathies and shows distinct signalling in microglia and astrocytes.

Beltran-Lobo P, Hughes MM, Troakes C, Croft CL, Rupawala H, Jutzi D, Ruepp MD, Jimenez-Sanchez M, Perkinton MS, Kassiou M, Golde TE, Hanger DP, Verkhratsky A, Perez-Nievas BG, Noble W. Beltran-Lobo P, et al. Among authors: ruepp md. Brain Behav Immun. 2023 Nov;114:414-429. doi: 10.1016/j.bbi.2023.09.011. Epub 2023 Sep 15. Brain Behav Immun. 2023. PMID: 37716378 Free PMC article.

6

Molecular basis of RNA-binding and autoregulation by the cancer-associated splicing factor RBM39.

Campagne S, Jutzi D, Malard F, Matoga M, Romane K, Feldmuller M, Colombo M, Ruepp MD, Allain FH. Campagne S, et al. Among authors: ruepp md. Nat Commun. 2023 Sep 4;14(1):5366. doi: 10.1038/s41467-023-40254-5. Nat Commun. 2023. PMID: 37666821 Free PMC article.

7

HNRNPH1 regulates the neuroprotective cold-shock protein RBM3 expression through poison exon exclusion.

Lin JQ, Khuperkar D, Pavlou S, Makarchuk S, Patikas N, Lee FC, Zbiegly JM, Kang J, Field SF, Bailey DM, Freeman JL, Ule J, Metzakopian E, Ruepp MD, Mallucci GR. Lin JQ, et al. Among authors: ruepp md. EMBO J. 2023 Jul 17;42(14):e113168. doi: 10.15252/embj.2022113168. Epub 2023 May 30. EMBO J. 2023. PMID: 37248947 Free PMC article.

8

Alternative Splicing in Human Biology and Disease.

Jutzi D, Ruepp MD. Jutzi D, et al. Among authors: ruepp md. Methods Mol Biol. 2022;2537:1-19. doi: 10.1007/978-1-0716-2521-7_1. Methods Mol Biol. 2022. PMID: 35895255

9

Heterozygous expression of the Alzheimer's disease-protective PLCγ2 P522R variant enhances Aβ clearance while preserving synapses.

Solomon S, Sampathkumar NK, Carre I, Mondal M, Chennell G, Vernon AC, Ruepp MD, Mitchell JC. Solomon S, et al. Among authors: ruepp md. Cell Mol Life Sci. 2022 Jul 27;79(8):453. doi: 10.1007/s00018-022-04473-1. Cell Mol Life Sci. 2022. PMID: 35895133 Free PMC article.

10

The phase separation-dependent FUS interactome reveals nuclear and cytoplasmic function of liquid-liquid phase separation.

Reber S, Jutzi D, Lindsay H, Devoy A, Mechtersheimer J, Levone BR, Domanski M, Bentmann E, Dormann D, Mühlemann O, Barabino SML, Ruepp MD. Reber S, et al. Among authors: ruepp md. Nucleic Acids Res. 2021 Jul 21;49(13):7713-7731. doi: 10.1093/nar/gkab582. Nucleic Acids Res. 2021. PMID: 34233002 Free PMC article.

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