Mitochondrial and Endoplasmic Reticulum Alterations in a Case of Amyotrophic Lateral Sclerosis Caused by TDP-43 A382T Mutation

Amyotrophic lateral sclerosis is the most common form of motor neuron disease. Mutations in TARDBP, the gene encoding the RNA-binding protein TDP-43, are responsible for about 5% of familial ALS. Here we report the clinical and biological features of an ALS patients with pA382T mutation in TPD-43 pr...

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Detalles Bibliográficos
Autores principales: Zanini, Giada, Selleri, Valentina, Nasi, Milena, De Gaetano, Anna, Martinelli, Ilaria, Gianferrari, Giulia, Lofaro, Francesco Demetrio, Boraldi, Federica, Mandrioli, Jessica, Pinti, Marcello
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9570187/
https://www.ncbi.nlm.nih.gov/pubmed/36233180
http://dx.doi.org/10.3390/ijms231911881

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