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Article

Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability.

Journal of human genetics - 1 Apr 2016

Moncini Silvia, Castronovo Paola, Murgia Alessandra, Russo Silvia, Bedeschi Maria Francesca, Lunghi Marta, Selicorni Angelo, Bonati Maria Teresa, Riva Paola, Venturin Marco

Abstract excerpt

Cyclin-dependent kinase 5 (CDK5) and cyclin-dependent kinase 5, regulatory subunit 1 (CDK5R1), encoding CDK5 activator p35, have a fundamental role in central nervous system (CNS) development and function, and are involved in the pathogenesis of several neurodegenerative disorders, thus constituting strong candidate genes for the onset of intellectual disability (ID). We carried out a mutation screening of CDK5...

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Identifiers

PMID: 26657932
DOI: 10.1038/jhg.2015.144

Genes

CDK5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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