TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation.

doi:10.1136/jnnp-2017-316174

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Article

TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation.

Journal of neurology, neurosurgery, and psychiatry - 1 Oct 2017

Pozzi Laura, Valenza Fabiola, Mosca Lorena, Dal Mas Andrea, Domi Teuta, Romano Alessandro, Tarlarini Claudia, Falzone Yuri Matteo, Tremolizzo Lucio, Sorarù Gianni, Cerri Federica, Ferraro Pilar M, Basaia Silvia, Agosta Federica, Fazio Raffaella, Comola Mauro, Comi Giancarlo, Ferrari Maurizio, Quattrini Angelo, Lunetta Christian, Penco Silvana, Bonanomi Dario, Carrera Paola, Riva Nilo

Abstract excerpt

BACKGROUND: TANK-binding kinase 1 (TBK1) gene has been recently identified as a causative gene of amyotrophic lateral sclerosis (ALS). METHODS: We sequenced the TBK1 gene in a cohort of 154 Italian patients with ALS with unclear genetic aetiology. We subsequently assessed the pathogenic potential of novel identified TBK1 variants using functional in vitro studies: expression, targeting and activity were evaluated...

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Identifiers

PMID: 28822984
DOI: 10.1136/jnnp-2017-316174
PMCID: PMC5629935

Genes

TBK1
TANK

Variants

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