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Heterozygous knockout of Synaptotagmin13 phenocopies ALS features and TP53 activation in human motor neurons

Abstract Spinal motor neurons (MNs) represent a highly vulnerable cellular population, which is affected in fatal neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA). In this study, we show that the heterozygous loss of SYT13 is sufficient to trig...

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Detalhes bibliográficos
Principais autores: Johannes Lehmann, Amr Aly, Christina Steffke, Luca Fabbio, Valentin Mayer, Natalie Dikwella, Kareen Halablab, Francesco Roselli, Simone Seiffert, Tobias M. Boeckers, David Brenner, Edor Kabashi, Medhanie Mulaw, Ritchie Ho, Alberto Catanese
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2024-08-01
coleção:Cell Death and Disease
Acesso em linha:https://doi.org/10.1038/s41419-024-06957-3
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