publication . Other literature type . Article . 2018

Heterozygous CDKL5 Knockout Female Mice Are a Valuable Animal Model for CDKL5 Disorder.

Elisabetta Ciani; Stefania Trazzi; Giovanna Zoccoli; Simone Bettini; Giorgio Medici; Stefano Bastianini; Claudia Fuchs; Roberto Rimondini; Elisa Ren; Viviana Lo Martire; ...
Open Access
  • Published: 27 May 2018
  • Country: Italy
Abstract
<jats:p>CDKL5 disorder is a severe neurodevelopmental disorder caused by mutations in the X-linked CDKL5 (cyclin-dependent kinase-like five) gene. CDKL5 disorder primarily affects girls and is characterized by early-onset epileptic seizures, gross motor impairment, intellectual disability, and autistic features. Although all CDKL5 female patients are heterozygous, the most valid disease-related model, the heterozygous female <jats:italic>Cdkl5</jats:italic> knockout (<jats:italic>Cdkl5</jats:italic> +/−) mouse, has been little characterized. The lack of detailed behavioral profiling of this model remains a crucial gap that must be addressed in order to advance p...
Subjects
free text keywords: Article Subject, Animals, Behavior, Animal, Brain, Epileptic Syndromes, Female, Heterozygote, Mice, Inbred C57BL, Mice, Knockout, Protein-Serine-Threonine Kinases, Rett Syndrome, Signal Transduction, Spasms, Infantile, Disease Models, Animal, Neurology, Neurology (clinical), Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Research Article, Phenotype, Biology, CDKL5, Motor coordination, Heterozygote advantage, Neurodevelopmental disorder, medicine.disease, medicine, Intellectual disability, Protein kinase B, Neuroscience
61 references, page 1 of 5

Kalscheuer, V. M., Tao, J., Donnelly, A.. Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. The American Journal of Human Genetics . 2003; 72 (6): 1401-1411 [OpenAIRE] [PubMed] [] [DOI]

Weaving, L. S., Christodoulou, J., Williamson, S. L.. Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. The American Journal of Human Genetics . 2004; 75 (6): 1079-1093 [OpenAIRE] [PubMed] [] [DOI]

Bahi-Buisson, N., Bienvenu, T.. CDKL5-related disorders: from clinical description to molecular genetics. Molecular Syndromology . 2012; 2 (3–5): 137-152 [OpenAIRE] [PubMed] [] [DOI]

Fehr, S., Wilson, M., Downs, J.. The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. European Journal of Human Genetics . 2013; 21 (3): 266-273 [OpenAIRE] [PubMed] [] [DOI]

Bahi-Buisson, N., Villeneuve, N., Caietta, E.. Recurrent mutations in the CDKL5 gene: genotype–phenotype relationships. American Journal of Medical Genetics Part A . 2012; 158A (7): 1612-1619 [OpenAIRE] [PubMed] [] [DOI]

Guerrini, R., Parrini, E.. Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene–related encephalopathies. Epilepsia . 2012; 53 (12): 2067-2078 [OpenAIRE] [PubMed] [] [DOI]

Fehr, S., Downs, J., Ho, G.. Functional abilities in children and adults with the CDKL5 disorder. American Journal of Medical Genetics Part A . 2016; 170 (11): 2860-2869 [OpenAIRE] [PubMed] [] [DOI]

Montini, E., Andolfi, G., Caruso, A.. Identification and characterization of a novel serine–threonine kinase gene from the Xp22 region. Genomics . 1998; 51 (3): 427-433 [OpenAIRE] [PubMed] [] [DOI]

Rusconi, L., Salvatoni, L., Giudici, L.. CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail. Journal of Biological Chemistry . 2008; 283 (44): 30101-30111 [OpenAIRE] [PubMed] [] [DOI]

Kilstrup-Nielsen, C., Rusconi, L., La Montanara, P.. What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy. Neural Plasticity . 2012; 2012: 11 [OpenAIRE] [] [] [PubMed] [DOI]

Mari, F., Azimonti, S., Bertani, I.. CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. Human Molecular Genetics . 2005; 14 (14): 1935-1946 [OpenAIRE] [PubMed] [] [DOI]

Bertani, I., Rusconi, L., Bolognese, F.. Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation. Journal of Biological Chemistry . 2006; 281 (42): 32048-32056 [OpenAIRE] [PubMed] [] [DOI]

Kameshita, I., Sekiguchi, M., Hamasaki, D.. Cyclin-dependent kinase-like 5 binds and phosphorylates DNA methyltransferase 1. Biochemical and Biophysical Research Communications . 2008; 377 (4): 1162-1167 [OpenAIRE] [PubMed] [] [DOI]

Chen, Q., Zhu, Y. C., Yu, J.. CDKL5, a protein associated with rett syndrome, regulates neuronal morphogenesis via Rac1 signaling. The Journal of Neuroscience . 2010; 30 (38): 12777-12786 [OpenAIRE] [PubMed] [] [DOI]

Sekiguchi, M., Katayama, S., Hatano, N., Shigeri, Y., Sueyoshi, N., Kameshita, I.. Identification of amphiphysin 1 as an endogenous substrate for CDKL5, a protein kinase associated with X-linked neurodevelopmental disorder. Archives of Biochemistry and Biophysics . 2013; 535 (2): 257-267 [OpenAIRE] [PubMed] [] [DOI]

61 references, page 1 of 5
Related research
Abstract
<jats:p>CDKL5 disorder is a severe neurodevelopmental disorder caused by mutations in the X-linked CDKL5 (cyclin-dependent kinase-like five) gene. CDKL5 disorder primarily affects girls and is characterized by early-onset epileptic seizures, gross motor impairment, intellectual disability, and autistic features. Although all CDKL5 female patients are heterozygous, the most valid disease-related model, the heterozygous female <jats:italic>Cdkl5</jats:italic> knockout (<jats:italic>Cdkl5</jats:italic> +/−) mouse, has been little characterized. The lack of detailed behavioral profiling of this model remains a crucial gap that must be addressed in order to advance p...
Subjects
free text keywords: Article Subject, Animals, Behavior, Animal, Brain, Epileptic Syndromes, Female, Heterozygote, Mice, Inbred C57BL, Mice, Knockout, Protein-Serine-Threonine Kinases, Rett Syndrome, Signal Transduction, Spasms, Infantile, Disease Models, Animal, Neurology, Neurology (clinical), Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Research Article, Phenotype, Biology, CDKL5, Motor coordination, Heterozygote advantage, Neurodevelopmental disorder, medicine.disease, medicine, Intellectual disability, Protein kinase B, Neuroscience
61 references, page 1 of 5

Kalscheuer, V. M., Tao, J., Donnelly, A.. Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. The American Journal of Human Genetics . 2003; 72 (6): 1401-1411 [OpenAIRE] [PubMed] [] [DOI]

Weaving, L. S., Christodoulou, J., Williamson, S. L.. Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. The American Journal of Human Genetics . 2004; 75 (6): 1079-1093 [OpenAIRE] [PubMed] [] [DOI]

Bahi-Buisson, N., Bienvenu, T.. CDKL5-related disorders: from clinical description to molecular genetics. Molecular Syndromology . 2012; 2 (3–5): 137-152 [OpenAIRE] [PubMed] [] [DOI]

Fehr, S., Wilson, M., Downs, J.. The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. European Journal of Human Genetics . 2013; 21 (3): 266-273 [OpenAIRE] [PubMed] [] [DOI]

Bahi-Buisson, N., Villeneuve, N., Caietta, E.. Recurrent mutations in the CDKL5 gene: genotype–phenotype relationships. American Journal of Medical Genetics Part A . 2012; 158A (7): 1612-1619 [OpenAIRE] [PubMed] [] [DOI]

Guerrini, R., Parrini, E.. Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene–related encephalopathies. Epilepsia . 2012; 53 (12): 2067-2078 [OpenAIRE] [PubMed] [] [DOI]

Fehr, S., Downs, J., Ho, G.. Functional abilities in children and adults with the CDKL5 disorder. American Journal of Medical Genetics Part A . 2016; 170 (11): 2860-2869 [OpenAIRE] [PubMed] [] [DOI]

Montini, E., Andolfi, G., Caruso, A.. Identification and characterization of a novel serine–threonine kinase gene from the Xp22 region. Genomics . 1998; 51 (3): 427-433 [OpenAIRE] [PubMed] [] [DOI]

Rusconi, L., Salvatoni, L., Giudici, L.. CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail. Journal of Biological Chemistry . 2008; 283 (44): 30101-30111 [OpenAIRE] [PubMed] [] [DOI]

Kilstrup-Nielsen, C., Rusconi, L., La Montanara, P.. What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy. Neural Plasticity . 2012; 2012: 11 [OpenAIRE] [] [] [PubMed] [DOI]

Mari, F., Azimonti, S., Bertani, I.. CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. Human Molecular Genetics . 2005; 14 (14): 1935-1946 [OpenAIRE] [PubMed] [] [DOI]

Bertani, I., Rusconi, L., Bolognese, F.. Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation. Journal of Biological Chemistry . 2006; 281 (42): 32048-32056 [OpenAIRE] [PubMed] [] [DOI]

Kameshita, I., Sekiguchi, M., Hamasaki, D.. Cyclin-dependent kinase-like 5 binds and phosphorylates DNA methyltransferase 1. Biochemical and Biophysical Research Communications . 2008; 377 (4): 1162-1167 [OpenAIRE] [PubMed] [] [DOI]

Chen, Q., Zhu, Y. C., Yu, J.. CDKL5, a protein associated with rett syndrome, regulates neuronal morphogenesis via Rac1 signaling. The Journal of Neuroscience . 2010; 30 (38): 12777-12786 [OpenAIRE] [PubMed] [] [DOI]

Sekiguchi, M., Katayama, S., Hatano, N., Shigeri, Y., Sueyoshi, N., Kameshita, I.. Identification of amphiphysin 1 as an endogenous substrate for CDKL5, a protein kinase associated with X-linked neurodevelopmental disorder. Archives of Biochemistry and Biophysics . 2013; 535 (2): 257-267 [OpenAIRE] [PubMed] [] [DOI]

61 references, page 1 of 5
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