Article
MATR3 P154S knock-in mice do not exhibit motor, muscle or neuropathologic features of ALS.
Biochemical and biophysical research communications - 19 Feb 2023
Dominick Marissa, Houchins Nicole, Venugopal Vinisha, Zuberi Aamir R, Lutz Cathleen M, Meechooveet Bessie, Van Keuren-Jensen Kendall, Bowser Robert, Medina David X
Abstract excerpt
Matrin 3 is a nuclear matrix protein that has many roles in RNA processing including splicing and transport of mRNA. Many missense mutations in the Matrin 3 gene (MATR3) have been linked to familial forms of amyotrophic lateral sclerosis (ALS) and distal myopathy. However, the exact role of MATR3 mutations in ALS and myopathy pathogenesis is not understood. To demonstrate a role of MATR3 mutations in vivo, we...
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