Research output per year
Research output per year
- 47 results
Search results
-
2025
A multimodal screening platform for endogenous dipeptide repeat proteins in C9orf72 patient iPSC neurons
Hölbling, B. V., Gupta, Y., Marchi, P. M., Atilano, M. L., Flower, M., Ureña, E., Goulden, R. A., Dobbs, H. K., Katona, E., Mikheenko, A., Giblin, A., Awan, A. R., Fisher-Ward, C. L., O'Brien, N., Vaizoglu, D., Kempthorne, L., Wilson, K. M., Gittings, L. M., Carcolé, M. & Ruepp, M.-D. & 9 others, , 27 May 2025, In: Cell Reports. 44, 5, p. 115695 115695.Research output: Contribution to journal › Article › peer-review
Open Access -
Cognition on the move: Examining the role of physical exercise and neurogenesis in counteracting cognitive aging
Farmand, S., Du Preez, A., Kim, C., de Lucia, C., Ruepp, M. D., Stubbs, B. & Thuret, S., 8 Apr 2025, In: AGEING RESEARCH REVIEWS. 107, 102725.Research output: Contribution to journal › Review article › peer-review
Open Access1 Citation (Scopus) -
Single-cell RNA-sequencing reveals early mitochondrial dysfunction unique to motor neurons shared across FUS- and TARDBP-ALS
Schweingruber, C., Nijssen, J., Mechtersheimer, J., Reber, S., Lebœuf, M., O’Brien, N. L., Mei, I., Hedges, E., Keuper, M., Benitez, J. A., Radoi, V., Jastroch, M., Ruepp, M.-D. & Hedlund, E., 19 May 2025, In: Nature communications. 16, 1, 4633.Research output: Contribution to journal › Article › peer-review
Open Access -
2024
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, M. D., Parent, R., Combet, C., Zoulim, F. & Testoni, B., 21 Mar 2024, In: Nucleic Acids Research. 52, 5, p. 2290-2305 16 p.Research output: Contribution to journal › Article › peer-review
Open Access13 Citations (Scopus) -
Mutations in FUS lead to synaptic dysregulation in ALS-iPSC derived neurons
Shum, C., Hedges, E. C., Allison, J., Lee, Y. B., Arias, N., Cocks, G., Chandran, S., Ruepp, M. D., Shaw, C. E. & Nishimura, A. L., 18 Jan 2024, In: Stem cell reports. 19, 2, p. 187-195 9 p.Research output: Contribution to journal › Article › peer-review
Open Access4 Citations (Scopus) -
2023
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, M. D., 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. & 2 others, , 25 Nov 2023, In: Cellular and Molecular Life Sciences. 80, 12, 373.Research output: Contribution to journal › Article › peer-review
Open Access10 Citations (Scopus) -
HNRNPH1 regulates the neuroprotective cold-shock protein RBM3 expression through poison exon exclusion
Lin*, J. Q., Khuperkar*, D., Pavlou, S., Makarchuk, S., Patikas, N., Lee, F. C., Zbiegly, J. M., Kang, J., Field, S. F., Bailey, D. M., Freeman, J. L., Ule, J., Metzakopian, E., Ruepp, M.-D. & Mallucci, G. R., 17 Jul 2023, In: The EMBO journal. 42, 14, p. e113168Research output: Contribution to journal › Article › peer-review
13 Citations (Scopus) -
Mimicking hypomethylation of FUS requires liquid–liquid phase separation to induce synaptic dysfunctions
Kim, S. C., Mitchell, S. J., Qamar, S., Whitcomb, D. J., Ruepp, M. D., St George-Hyslop, P. & Cho, K., 18 Dec 2023, In: Acta Neuropathologica Communications. 11, 1, 199.Research output: Contribution to journal › Article › peer-review
Open Access1 Citation (Scopus) -
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, M. D. & Allain, F. H. T., 4 Sept 2023, In: Nature Communications. 14, 1, 5366.Research output: Contribution to journal › Article › peer-review
Open Access16 Citations (Scopus) -
P2X7R influences tau aggregate burden in human tauopathies and shows distinct signalling in microglia and astrocytes
Beltran-Lobo, P., Hughes, M. M., Troakes, C., Croft, C. L., Rupawala, H., Jutzi, D., Ruepp, M. D., Jimenez-Sanchez, M., Perkinton, M. S., Kassiou, M., Golde, T. E., Hanger, D. P., Verkhratsky, A., Perez-Nievas, B. G. & Noble, W., Nov 2023, In: Brain, Behavior, and Immunity. 114, p. 414-429 16 p.Research output: Contribution to journal › Article › peer-review
Open Access7 Citations (Scopus) -
2022
Alternative Splicing in Human Biology and Disease
Jutzi, D. & Ruepp, M. D., 2022, Methods in Molecular Biology. Humana Press Inc, p. 1-19 19 p. (Methods in Molecular Biology; vol. 2537).Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review
1 Citation (Scopus) -
Heterozygous expression of the Alzheimer's disease-protective PLCγ2 P522R variant enhances Aβ clearance while preserving synapses
Solomon, S., Sampathkumar, N. K., Carre, I., Mondal, M., Chennell, G., Vernon, A. C., Ruepp, M.-D. & Mitchell, J. C., 27 Jul 2022, In: Cellular and molecular life sciences : CMLS. 79, 8, p. 453 453.Research output: Contribution to journal › Article › peer-review
Open AccessFile8 Citations (Scopus)170 Downloads (Pure) -
2021
ALS-linked FUS mutants affect the localization of U7 snRNP and replication-dependent histone gene expression in human cells
Gadgil, A., Walczak, A., Stępień, A., Mechtersheimer, J., Nishimura, A. L., Shaw, C. E., Ruepp, M. D. & Raczyńska, K. D., Dec 2021, In: Scientific Reports. 11, 1, 11868.Research output: Contribution to journal › Article › peer-review
Open Access5 Citations (Scopus) -
FUS-dependent liquid-liquid phase separation is important for DNA repair initiation
Levone, B. R., Lenzken, S. C., Antonaci, M., Maiser, A., Rapp, A., Conte, F., Reber, S., Mechtersheimer, J., Ronchi, A. E., Mühlemann, O., Leonhardt, H., Cardoso, M. C., Ruepp, M. D. & Barabino, S. M. L., 3 May 2021, In: The Journal of cell biology. 220, 5, e202008030.Research output: Contribution to journal › Article › peer-review
Open Access122 Citations (Scopus) -
Repurposing of glycine transport inhibitors for the treatment of erythropoietic protoporphyria
Halloy, F., Iyer, P. S., Ghidini, A., Lysenko, V., Barman-Aksözen, J., Grubenmann, C. P., Jucker, J., Wildner-Verhey van Wijk, N., Ruepp, M. D., Minder, E. I., Minder, A. E., Schneider-Yin, X., Theocharides, A. P. A., Schümperli, D. & Hall, J., 19 Aug 2021, In: Cell Chemical Biology. 28, 8, p. 1221-1234.e6Research output: Contribution to journal › Article › peer-review
16 Citations (Scopus) -
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, B. R., Domanski, M., Bentmann, E., Dormann, D., Mühlemann, O., Barabino, S. M. L. & Ruepp, M.-D., 21 Jul 2021, In: Nucleic Acids Research. 49, 13, p. 7713-7731 19 p.Research output: Contribution to journal › Article › peer-review
Open Access63 Citations (Scopus) -
2020
Aberrant interaction of FUS with the U1 snRNA provides a molecular mechanism of FUS induced amyotrophic lateral sclerosis
Jutzi, D., Campagne, S., Schmidt, R., Reber, S., Mechtersheimer, J., Gypas, F., Schweingruber, C., Colombo, M., von Schroetter, C., Loughlin, F. E., Devoy, A., Hedlund, E., Zavolan, M., Allain, F.H.-T. & Ruepp, M.-D., 11 Dec 2020, In: Nature Communications. 11, 1, p. 6341 6341.Research output: Contribution to journal › Article › peer-review
50 Citations (Scopus) -
Direct Measurement of Single-Molecule Ligand-Receptor Interactions
Lam, K. T., Taylor, E. L., Thompson, A. J., Ruepp, M. D., Lochner, M., Martinez, M. J. & Brozik, J. A., 10 Sept 2020, In: The journal of physical chemistry. B. 124, 36, p. 7791-7802 12 p.Research output: Contribution to journal › Article › peer-review
6 Citations (Scopus) -
FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention
Humphrey, J., Birsa, N., Milioto, C., McLaughlin, M., Ule, A. M., Robaldo, D., Eberle, A. B., Kräuchi, R., Bentham, M., Brown, A.-L., Jarvis, S., Bodo, C., Garone, M. G., Devoy, A., Soraru, G., Rosa, A., Bozzoni, I., Fisher, E. M. C., Mühlemann, O. & Schiavo, G. & 4 others, , 9 Jul 2020, In: Nucleic Acids Research. 48, 12, p. 6889-6905 17 p.Research output: Contribution to journal › Article › peer-review
70 Citations (Scopus) -
Human vtRNA1-1 levels modulate signaling pathways and regulate apoptosis in human cancer cells
Bracher, L., Ferro, I., Pulido-Quetglas, C., Ruepp, M. D., Johnson, R. & Polacek, N., Apr 2020, In: Biomolecules. 10, 4, 614.Research output: Contribution to journal › Article › peer-review
Open Access25 Citations (Scopus) -
2019
Muscleblind acts as a modifier of FUS toxicity by modulating stress granule dynamics and SMN localization
Casci, I., Krishnamurthy, K., Kour, S., Tripathy, V., Ramesh, N., Anderson, E. N., Marrone, L., Grant, R. A., Oliver, S., Gochenaur, L., Patel, K., Sterneckert, J., Gleixner, A. M., Donnelly, C. J., Ruepp, M. D., Sini, A. M., Zuccaro, E., Pennuto, M., Pasinelli, P. & Bhan Pandey, U., 1 Dec 2019, In: Nature Communications. 10, 1, 5583.Research output: Contribution to journal › Article › peer-review
Open Access24 Citations (Scopus) -
Targeting CD47 in anaplastic thyroid carcinoma enhances tumor phagocytosis by macrophages and is a promising therapeutic strategy
Schürch, C. M., Roelli, M. A., Forster, S., Wasmer, M.-H., Brühl, F., Maire, R., Di Pancrazio, S., Ruepp, M.-D., Giger, R., Perren, A., Schmitt, A., Krebs, P., Charles, R.-P. & Dettmer, M. S., 1 Jul 2019, In: Thyroid. 29, 7, p. 979-992 14 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile67 Citations (Scopus)220 Downloads (Pure) -
The Solution Structure of FUS Bound to RNA Reveals a Bipartite Mode of RNA Recognition with Both Sequence and Shape Specificity
Loughlin, F. E., Lukavsky, P. J., Kazeeva, T., Reber, S., Hock, E.-M., Colombo, M., Von Schroetter, C., Pauli, P., Cléry, A., Mühlemann, O., Polymenidou, M., Ruepp, M.-D. & Allain, F.H.-T., 7 Feb 2019, In: MOLECULAR CELL. 73, 3, p. 490-504.e6Research output: Contribution to journal › Article › peer-review
Open AccessFile142 Citations (Scopus)332 Downloads (Pure) -
2018
CRISPR-Trap: a clean approach for the generation of gene knockouts and gene replacements in human cells
Reber, S., Mechtersheimer, J., Nasif, S., Benitez, J. A., Colombo, M., Domanski, M., Jutzi, D., Hedlund, E. & Ruepp, M.-D., 23 Mar 2018, (E-pub ahead of print) In: Molecular Biology of the Cell. 29, 2, p. 75-83 9 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile28 Citations (Scopus)252 Downloads (Pure) -
Generation of Gene Knockout and Gene Replacement with Complete Removal of Full-length Endogenous Transcript Using CRISPR-Trap
Mechtersheimer, J., Reber, S. & Ruepp, M.-D., 20 Oct 2018, In: Bio-protocol LLC. 8, 20, e3052.Research output: Contribution to journal › Article › peer-review
Open AccessFile310 Downloads (Pure) -
Hypertonic Stress Causes Cytoplasmic Translocation of Neuronal, but Not Astrocytic, FUS due to Impaired Transportin Function
Hock, E.-M., Maniecka, Z., Hruska-Plochan, M., Reber, S., Laferrière, F., Sahadevan M K, S., Ederle, H., Gittings, L., Pelkmans, L., Dupuis, L., Lashley, T., Ruepp, M.-D., Dormann, D. & Polymenidou, M., 24 Jul 2018, (E-pub ahead of print) In: Cell Reports. 24, 4, p. 987-1000.e7Research output: Contribution to journal › Article › peer-review
Open AccessFile48 Citations (Scopus)253 Downloads (Pure) -
Mapping the Orthosteric Binding Site of the Human 5-HT Receptor Using Photo-crosslinking Antagonists
Jack, T., Leuenberger, M., Ruepp, M.-D., Vernekar, S. K. V., Thompson, A. J., Braga-Lagache, S., Heller, M. & Lochner, M., 27 Aug 2018, (E-pub ahead of print) In: Acs chemical neuroscience.Research output: Contribution to journal › Article › peer-review
5 Citations (Scopus) -
Phase Separation of FUS Is Suppressed by Its Nuclear Import Receptor and Arginine Methylation
Hofweber, M., Hutten, S., Bourgeois, B., Spreitzer, E., Niedner-Boblenz, A., Schifferer, M., Ruepp, M.-D., Simons, M., Niessing, D., Madl, T. & Dormann, D., 19 Apr 2018, (E-pub ahead of print) In: Cell. 173, 3, p. 706-719.e13 14 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile504 Citations (Scopus)642 Downloads (Pure) -
The emerging role of minor intron splicing in neurological disorders
Jutzi, D., Akinyi, M. V., Mechtersheimer, J., Frilander, M. J. & Ruepp, M.-D., 22 Feb 2018, In: Cell Stress. 2, 3, p. 40-54Research output: Contribution to journal › Review article › peer-review
Open AccessFile24 Citations (Scopus)178 Downloads (Pure) -
2017
The binding orientation of epibatidine at α7 nACh receptors
Thompson, A. J., Metzger, S., Lochner, M. & Ruepp, M. D., 1 Apr 2017, In: Neuropharmacology. 116, p. 421-428 8 p.Research output: Contribution to journal › Article › peer-review
12 Citations (Scopus) -
The binding orientations of structurally-related ligands can differ; A cautionary note
Ruepp, M.-D., Wei, H., Leuenberger, M., Lochner, M. & Thompson, A. J., Jun 2017, In: Neuropharmacology. 119, p. 48-61 14 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile14 Citations (Scopus)205 Downloads (Pure) -
2016
Identification of Interactions in the NMD Complex Using Proximity-Dependent Biotinylation (BioID)
Schweingruber, C., Soffientini, P., Ruepp, M. D., Bachi, A. & Muhlemann, O., 2 Mar 2016, In: PloS one. 11, 3, e0150239.Research output: Contribution to journal › Article › peer-review
Open Access31 Citations (Scopus) -
Minor intron splicing is regulated by FUS and affected by ALS‐associated FUS mutants
Reber, S., Stettler, J., Filosa, G., Colombo, M., Jutzi, D., Lenzken, S. C., Schweingruber, C., Bruggmann, R., Bachi, A., Barabino, S. M., Mühlemann, O. & Ruepp, M., 15 Jul 2016, In: The EMBO journal. 35, 14, p. 1504-1521 18 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile88 Citations (Scopus)119 Downloads (Pure) -
Monomethylated and unmethylated FUS exhibit increased binding to Transportin and distinguish FTLD-FUS from ALS-FUS
Suarez-Calvet, M., Neumann, M., Arzberger, T., Abou-Ajram, C., Funk, E., Hartmann, H., Edbauer, D., Kremmer, E., Gobl, C., Resch, M., Bourgeois, B., Madl, T., Reber, S., Jutzi, D., Ruepp, M. D., Mackenzie, I. R., Ansorge, O., Dormann, D. & Haass, C., 1 Apr 2016, In: Acta Neuropathol.. 131, 4, p. 587-604 18 p.Research output: Contribution to journal › Article › peer-review
74 Citations (Scopus) -
2015
A fluorescent approach for identifying P2X1 ligands
Ruepp, M.-D., Brozik, J. A., de Esch, I. J., Farndale, R. W., Murrell-Lagnado, R. D. & Thompson, A. J., 1 Nov 2015, In: Neuropharmacology. 98, Special Issue entitled ‘Fluorescent Tools in Neuropharmacology’, p. 13-21 9 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile10 Citations (Scopus)144 Downloads (Pure) -
Characterizing new fluorescent tools for studying 5-HT3 receptor pharmacology
Jack, T., Simonin, J., Ruepp, M. D., Thompson, A. J., Gertsch, J. & Lochner, M., 1 Mar 2015, In: Neuropharmacology. 90, p. 63-73 11 p.Research output: Contribution to journal › Article › peer-review
16 Citations (Scopus) -
FUS/TLS contributes to replication-dependent histone gene expression by interaction with U7 snRNPs and histone-specific transcription factors
Raczynska, K. D., Ruepp, M. D., Brzek, A., Reber, S., Romeo, V., Rindlisbacher, B., Heller, M., Szweykowska-Kulinska, Z., Jarmolowski, A. & Schumperli, D., 1 Nov 2015, In: Nucleic Acids Research. 43, 20, p. 9711-9728 18 p.Research output: Contribution to journal › Article › peer-review
Open Access31 Citations (Scopus) -
Tracking individual membrane proteins and their biochemistry: The power of direct observation
Barden, A. O., Goler, A. S., Humphreys, S. C., Tabatabaei, S., Lochner, M., Ruepp, M. D., Jack, T., Simonin, J., Thompson, A. J., Jones, J. P. & Brozik, J. A., 1 Nov 2015, In: Neuropharmacology. 98, p. 22-30 9 p.Research output: Contribution to journal › Review article › peer-review
15 Citations (Scopus) -
2014
Effect of combined systemic and local morpholino treatment on the spinal muscular atrophy Δ7 mouse model phenotype
Nizzardo, M., Simone, C., Salani, S., Ruepp, M. D., Rizzo, F., Ruggieri, M., Zanetta, C., Brajkovic, S., Moulton, H. M., Muehlemann, O., Bresolin, N., Comi, G. P. & Corti, S., 1 Mar 2014, In: Clinical Therapeutics. 36, 3, p. 340-356.e5 17 p.Research output: Contribution to journal › Article › peer-review
47 Citations (Scopus) -
Synthesis and characterization of photoaffinity probes that target the 5-HT3 receptor
Jack, T., Ruepp, M. D., Thompson, A. J., Muhlemann, O. & Lochner, M., 2014, In: Chimia (Aarau). 68, 4, p. 239-242 4 p.Research output: Contribution to journal › Article
6 Citations (Scopus) -
2013
Comparison of EJC-enhanced and EJC-independent NMD in human cells reveals two partially redundant degradation pathways
Metze, S., Herzog, V. A., Ruepp, M. D. & Muhlemann, O., 1 Oct 2013, In: Rna. 19, 10, p. 1432-1448 17 p.Research output: Contribution to journal › Article › peer-review
96 Citations (Scopus) -
Paraquat modulates alternative pre-mRNA splicing by modifying the intracellular distribution of SRPK2
Vivarelli, S., Lenzken, S. C., Ruepp, M. D., Ranzini, F., Maffioletti, A., Alvarez, R., Muhlemann, O. & Barabino, S. M., 2013, In: PLOS One. 8, 4, p. e61980Research output: Contribution to journal › Article › peer-review
24 Citations (Scopus) -
2011
Interactions of CstF-64, CstF-77, and symplekin: implications on localisation and function
Ruepp, M. D., Schweingruber, C., Kleinschmidt, N. & Schumperli, D., 1 Jan 2011, In: Molecular biology of the cell. 22, 1, p. 91-104 14 p.Research output: Contribution to journal › Article › peer-review
48 Citations (Scopus) -
mRNA 3' end processing and more-multiple functions of mammalian cleavage factor I-68
Ruepp, M.-D., Schumperli, D. & Barabino, S. M., 2011, In: Wiley Interdisciplinary Reviews: RNA. p. 79-91Research output: Contribution to journal › Review article › peer-review
11 Citations (Scopus) -
2010
The 68 kDa subunit of mammalian cleavage factor I interacts with the U7 small nuclear ribonucleoprotein and participates in 3'-end processing of animal histone mRNAs
Ruepp, M. D., Vivarelli, S., Pillai, R. S., Kleinschmidt, N., Azzouz, T. N., Barabino, S. M. & Schumperli, D., 1 Nov 2010, In: Nucleic Acids Research. 38, 21, p. 7637-7650 14 p.Research output: Contribution to journal › Article › peer-review
20 Citations (Scopus) -
2009
Mammalian pre-mRNA 3' end processing factor CF I m 68 functions in mRNA export
Ruepp, M. D., Aringhieri, C., Vivarelli, S., Cardinale, S., Paro, S., Schumperli, D. & Barabino, S. M., 1 Dec 2009, In: Molecular biology of the cell. 20, 24, p. 5211-5223 13 p.Research output: Contribution to journal › Article › peer-review
49 Citations (Scopus) -
Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation
Meyer, K., Marquis, J., Trub, J., Nlend Nlend, R., Verp, S., Ruepp, M.-D., Imboden, H., Barde, I., Trono, D. & Schumperli, D., 1 Feb 2009, In: Human Molecular Genetics. 18, 3, p. 546-555 10 p.Research output: Contribution to journal › Article › peer-review
88 Citations (Scopus)