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Selective neuronal degeneration in MATR3 S85C knock-in mouse model of early-stage ALS

A missense mutation, S85C, in the MATR3 gene is a genetic cause for amyotrophic lateral sclerosis (ALS). It is unclear how the S85C mutation affects MATR3 function and contributes to disease. Here, we develop a mouse model that harbors the S85C mutation in the endogenous Matr3 locus using the CRISPR...

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Detalles Bibliográficos
Autores principales: Kao, Ching Serena, van Bruggen, Rebekah, Kim, Jihye Rachel, Chen, Xiao Xiao Lily, Chan, Cadia, Lee, Jooyun, Cho, Woo In, Zhao, Melody, Arndt, Claudia, Maksimovic, Katarina, Khan, Mashiat, Tan, Qiumin, Wilson, Michael D., Park, Jeehye
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7576598/
https://www.ncbi.nlm.nih.gov/pubmed/33082323
http://dx.doi.org/10.1038/s41467-020-18949-w