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Neuromuscular dysfunction in patient-derived FUS<sup>R244RR</sup>-ALS iPSC model via axonal downregulation of neuromuscular junction proteins.

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第一作者： Nicolai,von Kügelgen

第一单位： Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin Institute for Medical Systems Biology (BIMSB), Non-coding RNAs and mechanisms of cytoplasmic gene regulation, Berlin 10115, Germany.

作者： Nicolai,von Kügelgen ^[1] ; Katarzyna,Ludwik ^[1] ; Samantha,Mendonsa ^[1] ; Christine,Römer ^[1] ; Erik,Becher ^[1] ; Laura,Breimann ^[2] ; Mara,Strauch ^[1] ; Tommaso,Mari ^[3] ; Sandrine,Mongellaz ^[1] ; Binyamin,Zuckerman ^[4] ; Fatima,Efendic ^[1] ; Nina,Grexa ^[5] ; Anna,Oliveras-Martinez ^[6] ; Andrew,Woehler ^[6] ; Matthias,Selbach ^[3] ; Vincenzo,La Bella ^[7] ; Igor,Ulitsky ^[4] ; Marina,Chekulaeva ^[1]

作者单位： Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin Institute for Medical Systems Biology (BIMSB), Non-coding RNAs and mechanisms of cytoplasmic gene regulation, Berlin 10115, Germany. ^[1] Harvard Medical School, Department of Genetics, Boston02115, MA, United States. ^[2] Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Proteome Dynamics, Berlin 13125, Germany. ^[3] Weizmann Institute of Science, Department of Biological Regulation and Molecular Neuroscience, Rehovot7610001, Israel. ^[4] Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin Institute for Medical Systems Biology (BIMSB), Non-coding RNAs and mechanisms of cytoplasmic gene regulation, Berlin 10115, Germany.;Humboldt University of Berlin,10115, Germany. ^[5] Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin Institute for Medical Systems Biology (BIMSB), BIMSB Light Microscopy platform, Berlin 10115, Germany. ^[6] University of Palermo, Department of Experimental Biomedicine and Advanced Diagnostics, ALS Clinical Research Center, Laboratory of Neurochemistry, Palermo 90133, Italy. ^[7]

DOI 10.1093/narmme/ugaf005

PMID 41255704

发布时间 2025-11-21

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Neuromuscular dysfunction in patient-derived FUS<sup>R244RR</sup>-ALS iPSC model via axonal downregulation of neuromuscular junction proteins.

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Neuromuscular dysfunction in patient-derived FUS<sup>R244RR</sup>-ALS iPSC model via axonal downregulation of neuromuscular junction proteins.

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