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A novel mutation in the cleavage site N291 of TDP-43 protein in a familial case of amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Aug 2020

Chami Anna A, Beltran Stéphane, Corcia Philippe, Andres Christian R, Laumonnier Frédéric, Blasco Hélène, Vourc'H Patrick

Abstract excerpt

Cytoplasmic aggregation of TAR-DNA binding protein (TDP-43) in Amyotrophic Lateral Sclerosis (ALS) and fronto-temporal lobar dementia (FTLD) is associated with post-translational modifications (PTM) and delocalization. Studies on postmortem brains of ALS and FTLD patients showed the existence of TDP-43 fragments that end at position N291. We report a new heterozygous mutation p.N291H in a familial case of ALS....

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Amyotrophic Lateral Sclerosis
Brain
DNA-Binding Proteins
Motor Neurons
Mutation

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PMID: 32301341
DOI: 10.1080/21678421.2020.1752243

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