Neuron-Type Specific Loss of CDKL5 Leads to Alterations in mTOR Signaling and Synaptic Markers
Sign Up to like & getrecommendations! Published in 2018 at "Molecular Neurobiology"
DOI: 10.1007/s12035-018-1346-8
Abstract: CDKL5 disorder is a devastating neurodevelopmental disorder associated with epilepsy, developmental retardation, autism, and related phenotypes. Mutations in the CDKL5 gene, encoding CDKL5, have been identified in this disorder. CDKL5 is a protein with homology… read more here.
Keywords: type specific; neuron type; mtor signaling; loss cdkl5 ... See more keywords
Vagus nerve stimulation for the treatment of refractory epilepsy in the CDKL5 Deficiency Disorder
Sign Up to like & getrecommendations! Published in 2018 at "Epilepsy Research"
DOI: 10.1016/j.eplepsyres.2018.07.013
Abstract: BACKGROUND Variants within the CDKL5 gene result in a severe epileptic encephalopathy now known as the CDKL5 Deficiency Disorder. Phenotypic characteristics include global developmental delay and early seizure onset with poor response to anti-epileptic medications.… read more here.
Keywords: treatment; disorder; deficiency disorder; cdkl5 ... See more keywords
CDKL5 deficiency disorder: molecular insights and mechanisms of pathogenicity to fast-track therapeutic development
Sign Up to like & getrecommendations! Published in 2022 at "Biochemical Society Transactions"
DOI: 10.1042/bst20220791
Abstract: CDKL5 deficiency disorder (CDD) is an X-linked brain disorder of young children and is caused by pathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene. Individuals with CDD suffer infantile onset, drug-resistant seizures, severe neurodevelopmental… read more here.
Keywords: cdkl5; development; cdkl5 deficiency; biology ... See more keywords
Pregnenolone-methyl-ether enhances CLIP170 and microtubule functions improving spine maturation and hippocampal deficits related to CDKL5 deficiency.
Sign Up to like & getrecommendations! Published in 2022 at "Human molecular genetics"
DOI: 10.1093/hmg/ddac067
Abstract: Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) cause CDKL5 deficiency disorder (CDD), a neurodevelopmental disease characterized by severe infantile seizures and intellectual disability. The absence of CDKL5 in mice causes defective spine maturation that… read more here.
Keywords: pregnenolone methyl; cdkl5; methyl ether; spine maturation ... See more keywords
Treatment with the GSK3‐beta inhibitor Tideglusib improves hippocampal development and memory performance in juvenile, but not adult, Cdkl5 knockout mice
Sign Up to like & getrecommendations! Published in 2018 at "European Journal of Neuroscience"
DOI: 10.1111/ejn.13923
Abstract: Cyclin‐dependent kinase‐like 5 (CDKL5) disorder is a severe neurodevelopmental disorder characterized by early‐onset epileptic seizures, severe developmental delay, and intellectual disability. To date, no effective pharmacological treatments are available to improve the neurological phenotype that… read more here.
Keywords: hippocampal development; disorder; juvenile; cdkl5 ... See more keywords
Cyclin-Dependent Kinase-Like 5 (CDKL5): Possible Cellular Signalling Targets and Involvement in CDKL5 Deficiency Disorder
Sign Up to like & getrecommendations! Published in 2020 at "Neural Plasticity"
DOI: 10.1155/2020/6970190
Abstract: Cyclin-dependent kinase-like 5 (CDKL5, also known as STK9) is a serine/threonine protein kinase originally identified in 1998 during a transcriptional mapping project of the human X chromosome. Thereafter, a mutation in CDKL5 was reported in… read more here.
Keywords: cyclin dependent; disorder; kinase like; dependent kinase ... See more keywords
Age-Related Cognitive and Motor Decline in a Mouse Model of CDKL5 Deficiency Disorder is Associated with Increased Neuronal Senescence and Death
Sign Up to like & getrecommendations! Published in 2021 at "Aging and Disease"
DOI: 10.14336/ad.2020.0827
Abstract: CDKL5 deficiency disorder (CDD) is a severe neurodevelopmental disease caused by mutations in the X-linked CDKL5 gene. Children affected by CDD display a clinical phenotype characterized by early-onset epilepsy, intellectual disability, motor impairment, and autistic-like… read more here.
Keywords: cdkl5 mice; cdkl5; decline; motor ... See more keywords
Luteolin Treatment Ameliorates Brain Development and Behavioral Performance in a Mouse Model of CDKL5 Deficiency Disorder
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23158719
Abstract: CDKL5 deficiency disorder (CDD), a rare and severe neurodevelopmental disease caused by mutations in the X-linked CDKL5 gene, is characterized by early-onset epilepsy, intellectual disability, and autistic features. Although pharmacotherapy has shown promise in the… read more here.
Keywords: cdkl5; brain; mouse; treatment ... See more keywords
Comprehensive In Silico Functional Prediction Analysis of CDKL5 by Single Amino Acid Substitution in the Catalytic Domain
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms232012281
Abstract: Cyclin-dependent kinase-like 5 (CDKL5) is a serine/threonine protein kinase whose pathological mutations cause CDKL5 deficiency disorder. Most missense mutations are concentrated in the catalytic domain. Therefore, anticipating whether mutations in this region affect CDKL5 function… read more here.
Keywords: cdkl5; comprehensive silico; substitution; analysis ... See more keywords
Loss of CDKL5 Causes Synaptic GABAergic Defects That Can Be Restored with the Neuroactive Steroid Pregnenolone-Methyl-Ether
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24010068
Abstract: CDKL5 deficiency disorder (CDD) is an X-linked neurodevelopmental disorder characterised by early-onset drug-resistant epilepsy and impaired cognitive and motor skills. CDD is caused by mutations in cyclin-dependent kinase-like 5 (CDKL5), which plays a well-known role… read more here.
Keywords: pregnenolone methyl; cdkl5; methyl ether; loss ... See more keywords