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

International journal of molecular sciences - 6 Oct 2022

Zanini Giada, Selleri Valentina, Nasi Milena, De Gaetano Anna, Martinelli Ilaria, Gianferrari Giulia, Lofaro Francesco Demetrio, Boraldi Federica, Mandrioli Jessica, Pinti Marcello

Abstract excerpt

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 protein. Disease began with right hand muscles weakness, and equally involved upper and lower motor neuron with a...

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PMID: 36233180
DOI: 10.3390/ijms231911881
PMCID: PMC9570187

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