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ProteomicsAbnormalities of mitochondrial dynamics and bioenergetics in neuronal cells from CDKL5 deficiency disorder
CDKL5 deficiency disorder (CDD) is a rare neurodevelopmental disorder caused by pathogenic variants in the Cyclin-dependent kinase-like 5 (CDKL5) gene, resulting in dysfunctional CDKL5 protein. It predominantly affects females and causes seizures in the first few months of life, ultimately resulting...
ORGANISM(S): Homo sapiens (Human) 
2025-04-28 | PXD063372 | Pride
Cdkl5  cdkl5 deficiency disorder  induced pluripotent stem cell  mitochondria  oxidative phosphorylation  proteomics. 
ProteomicsLF2 phosphorylation of the CDKL5 activation loop controls CDKL5’s activity
Cdkl5 Deficiency Disorder (CDD) is caused by variants in the protein kinase CDKL5, leading to symptoms such as seizures, developmental delay, and severe intellectual disability. The Chlamydomonas homologue of human CDKL5 is the flagellar protein LF5, whose absence results in a long flagella phenotyp...
ORGANISM(S): Chlamydomonas reinhardtii 
2025-11-15 | PXD068782 | Pride
Cilia Cdkl5 Phospho-proteome Flagella Cdd Chlamydomonas Cdk20 Lf5 Activation loop Lf2 Phosphorylation Kinase Proteome Cdkl5 deficiency disorder 
ProteomicsLF2 phosphorylation of the CDKL5 activation loop controls CDKL5’s activity
Cdkl5 Deficiency Disorder (CDD) is caused by variants in the protein kinase CDKL5, leading to symptoms such as seizures, developmental delay, and severe intellectual disability. The Chlamydomonas homologue of human CDKL5 is the flagellar protein LF5, whose absence results in a long flagella phenotyp...
ORGANISM(S): Chlamydomonas reinhardtii 
2025-11-15 | PXD066796 | Pride
Cilia Cdkl5 Phospho-proteome Flagella Cdd Chlamydomonas Cdk20 Lf5 Activation loop Lf2 Phosphorylation Kinase Proteome Cdkl5 deficiency disorder 
GenomicsBase editing restores CDKL5 expression and rescues neuronal deficits in a patient-derived model of CDKL5 deficiency disorder
Base editing restores CDKL5 expression and rescues neuronal deficits in a patient-derived model of CDKL5 deficiency disorder
PRJNA1438745 | ENA
TranscriptomicsTranscription profiling by array of human clonal primary fibroblasts from patients with CDKL5 mutations
Mutations in the human CDKL5 gene have been shown to cause infantile spasms, as well as Rett syndrome-like phenotype. Because CDKL5 is subjected to X chromosome inactivation (XCI), individual cells from CDKL5 mutation girls either express the wild-type or mutant allele, likely resulting in different...
ORGANISM(S): Homo sapiens 
2011-07-23 | E-MEXP-2833 | biostudies-arrayexpress
ProteomicsLF2 phosphorylation of the CDKL5 activation loop controls CDKL5’s activity
Cdkl5 Deficiency Disorder (CDD) is caused by variants in the protein kinase CDKL5, leading to symptoms such as seizures, developmental delay, and severe intellectual disability. The Chlamydomonas homologue of human CDKL5 is the flagellar protein LF5, whose absence results in a long flagella phenotyp...
ORGANISM(S): Chlamydomonas reinhardtii 
2025-11-18 | PXD066877 | Pride
Chlamydomonas Cilia Cdkl5 deficiency disorder Ciliopathy Intraflagellar transport Kinase Flagella 
UnknownInitial Validation and Reliability of the CDKL5 Deficiency Disorder Hand Function Scale (CDD-Hand).
Not available
S-EPMC9149062 | biostudies-literature
UnknownSeverity Assessment in CDKL5 Deficiency Disorder.
Not available
S-EPMC6659999 | biostudies-literature
UnknownCardiac Functional and Structural Abnormalities in a Mouse Model of CDKL5 Deficiency Disorder.
Not available
S-EPMC10059787 | biostudies-literature
ProteomicsChemical genetic identification of CDKL5 substrates reveals its role in neuronal microtubule dynamics
Loss-of-function mutations in CDKL5 kinase causes severe neurodevelopmental delay and early-onset seizures. Identification of CDKL5 substrates is key to understanding its function. Using chemical genetics, we found that CDKL5 phosphorylates three microtubule-associated proteins: MAP1S, EB2 and ARHGE...
ORGANISM(S): Mus musculus (Mouse) 
2018-09-18 | PXD010511 | Pride
Chemical genetics/ cdkl5/ map1s/ eb2/ microtubule dynamics 
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