Epilepsy-linked kinase CDKL5 phosphorylates voltage-gated calcium channel Cav2.3, altering inactivation kinetics and neuronal excitability.
Journal
Nature communications
ISSN: 2041-1723
Titre abrégé: Nat Commun
Pays: England
ID NLM: 101528555
Informations de publication
Date de publication:
11 Dec 2023
11 Dec 2023
Historique:
received:
03
02
2023
accepted:
09
11
2023
medline:
12
12
2023
pubmed:
12
12
2023
entrez:
11
12
2023
Statut:
epublish
Résumé
Developmental and epileptic encephalopathies (DEEs) are a group of rare childhood disorders characterized by severe epilepsy and cognitive deficits. Numerous DEE genes have been discovered thanks to advances in genomic diagnosis, yet putative molecular links between these disorders are unknown. CDKL5 deficiency disorder (CDD, DEE2), one of the most common genetic epilepsies, is caused by loss-of-function mutations in the brain-enriched kinase CDKL5. To elucidate CDKL5 function, we looked for CDKL5 substrates using a SILAC-based phosphoproteomic screen. We identified the voltage-gated Ca
Identifiants
pubmed: 38081835
doi: 10.1038/s41467-023-43475-w
pii: 10.1038/s41467-023-43475-w
pmc: PMC10713615
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
7830Subventions
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : Arthritis Research UK
ID : CC2037
Pays : United Kingdom
Organisme : Wellcome Trust
ID : CC2037
Pays : United Kingdom
Informations de copyright
© 2023. The Author(s).
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