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Article

Functional Characterization of a Familial ALS-Associated Missense TBK1 (p-Arg573Gly) Mutation in Patient-Derived Lymphoblasts.

International journal of molecular sciences - 2 Feb 2023

Porras Gracia, Ruiz Silvana, Maestro Inés, Borrego-Hernández Daniel, Redondo Alberto G, Martínez Ana, Martín-Requero Ángeles

Abstract excerpt

The goal of this work was to elucidate the pathogenic mechanism of an ALS-associated missense mutation, p.Arg573Gly (R573G), in the TBK1 gene. In particular, we seek to analyze the influence of this variant on the cellular levels and the function of TBK1 in immortalized cells from an ALS patient. The patient (Code# E7) belonged to a Spanish family with autosomal dominant disease manifesting in the sixth decade as...

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Identifiers

PMID: 36769169
DOI: 10.3390/ijms24032847
PMCID: PMC9917786

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