Missense variant in TTBK2 kinase domain causes loss of function and impaired protein phosphorylation

Abstract Tau tubulin kinase 2 (TTBK2) is a ubiquitous serine-threonine protein kinase implicated in diverse cellular processes, including microtubule regulation, ciliogenesis, synaptic signaling, and the phosphorylation of key proteins like TDP-43. Despite its relevance, many aspects of TTBK2 functi...

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Bibliografiske detaljer

Principais autores:	Daniela Felício, Hugo Osório, Conceição Pereira, Ana Filipa Brandão, João Parente Freixo, Inês Carvalho, Ana Paula Sousa, Margarida Castro-Caldas, Jorge Sequeiros, Carolina Lemos, Mariana Santos
Format:	Artigo
Sprog:	Inglês
Udgivet:	Nature Portfolio 2025-12-01
Serier:	Scientific Reports
Fag:	Tau-tubulin kinase 2 (TTBK2) Spinocerebellar ataxia type 11 (SCA11) CRISPR/Cas9 Kinase activity Phosphoproteomics Cytoskeleton.
Online adgang:	https://doi.org/10.1038/s41598-025-32288-0
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