Article
Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis.
Human molecular genetics - 25 Mar 2021
Lattante Serena, Doronzio Paolo Niccolò, Conte Amelia, Marangi Giuseppe, Martello Francesco, Bisogni Giulia, Meleo Emiliana, Colavito Davide, Del Giudice Elda, Patanella Agata Katia, Bernardo Daniela, Romano Angela, Zollino Marcella, Sabatelli Mario
Abstract excerpt
In the last few years, NEK1 has been identified as a new gene related to amyotrophic lateral sclerosis (ALS). Loss-of-function variants have been mostly described, although several missense variants exist, which pathogenic relevance remains to be established. We attempted to determine the contribution of NEK1 gene in an Italian cohort of 531 sporadic and familial amyotrophic lateral sclerosis (ALS) patients...
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