Article
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis.
Journal of medical genetics - 1 Feb 2022
Pavinato Lisa, Villamor-Payà Marina, Sanchiz-Calvo Maria, Andreoli Cristina, Gay Marina, Vilaseca Marta, Arauz-Garofalo Gianluca, Ciolfi Andrea, Bruselles Alessandro, Pippucci Tommaso, Prota Valentina, Carli Diana, Giorgio Elisa, Radio Francesca Clementina, Antona Vincenzo, Giuffrè Mario, Ranguin Kara, Colson Cindy, De Rubeis Silvia, Dimartino Paola, Buxbaum Joseph D, Ferrero Giovanni Battista, Tartaglia Marco, Martinelli Simone, Stracker Travis H, Brusco Alfredo
Abstract excerpt
INTRODUCTION: The Tousled-like kinases 1 and 2 (TLK1 and TLK2) are involved in many fundamental processes, including DNA replication, cell cycle checkpoint recovery and chromatin remodelling. Mutations in TLK2 were recently associated with 'Mental Retardation Autosomal Dominant 57' (MRD57, MIM# 618050), a neurodevelopmental disorder characterised by a highly variable phenotype, including mild-to-moderate...
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