Cargando…

Phenotypic characterization of Cdkl5-knockdown neurons establishes elongated cilia as a functional assay for CDKL5 Deficiency Disorder

CDKL5 Deficiency Disorder (CDD) is a severe encephalopathy characterized by intractable epilepsy, infantile spasms, and cognitive disabilities. The detrimental CNS manifestations and lack of therapeutic interventions represent unmet needs, necessitating identification of CDD-dependent phenotypes for...

Descripción completa

Detalles Bibliográficos
Autores principales:	Di Nardo, Alessia, Rühmkorf, Alina, Award, Patricia, Brennecke, Ashton, Fagiolini, Michela, Sahin, Mustafa
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8960319/ https://www.ncbi.nlm.nih.gov/pubmed/34624412 http://dx.doi.org/10.1016/j.neures.2021.10.001

Ejemplares similares

The DYF-5 RCK and CDKL-1 CDKL5 kinases contribute differentially to shape distinct sensory neuron cilia morphologies in C. elegans
por: Maurya, Ashish Kumar, et al.
Publicado: (2022)

Complex CDKL5 translational regulation and its potential role in CDKL5 deficiency disorder
por: Ruggiero, Valeria, et al.
Publicado: (2023)

Heterozygous CDKL5 Knockout Female Mice Are a Valuable Animal Model for CDKL5 Disorder
por: Fuchs, Claudia, et al.
Publicado: (2018)

Searching for biomarkers of CDKL5 disorder: early-onset visual impairment in CDKL5 mutant mice
por: Mazziotti, Raffaele, et al.
Publicado: (2017)

Cdkl5 mutant zebrafish shows skeletal and neuronal alterations mimicking human CDKL5 deficiency disorder
por: Varela, Tatiana, et al.
Publicado: (2022)

Cyclin-Dependent Kinase-Like 5 (CDKL5): Possible Cellular Signalling Targets and Involvement in CDKL5 Deficiency Disorder
por: Katayama, Syouichi, et al.
Publicado: (2020)

Novel CDKL5 mutations were found in patients in China: retrospective investigation in cases of CDKL5-related disorders
por: Yan, Yumei, et al.
Publicado: (2020)

Cortical Visual Impairment in CDKL5 Deficiency Disorder
por: Quintiliani, Michela, et al.
Publicado: (2022)

Reigning in Excitatory Signaling in CDKL5 Deficiency
por: Forcelli, Patrick A.
Publicado: (2019)

Expression of a Secretable, Cell-Penetrating CDKL5 Protein Enhances the Efficacy of Gene Therapy for CDKL5 Deficiency Disorder
por: Medici, Giorgio, et al.
Publicado: (2022)

There is variability in the attainment of developmental milestones in the CDKL5 disorder
por: Fehr, Stephanie, et al.
Publicado: (2015)

Characterisation of CDKL5 Transcript Isoforms in Human and Mouse
por: Hector, Ralph D., et al.
Publicado: (2016)

Modelling hCDKL5 Heterologous Expression in Bacteria
por: Fondi, Marco, et al.
Publicado: (2021)

Novel preclinical model for CDKL5 deficiency disorder
por: Serrano, Rita J., et al.
Publicado: (2022)

Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy
por: Yamamoto, Toshiyuki, et al.
Publicado: (2015)

Phosphoproteomic screening identifies physiological substrates of the CDKL5 kinase
por: Muñoz, Ivan M, et al.
Publicado: (2018)

CDKL5 Deficiency Disorder—A Complex Epileptic Encephalopathy
por: Jakimiec, Martyna, et al.
Publicado: (2020)

Effect of fenfluramine on convulsive seizures in CDKL5 deficiency disorder
por: Devinsky, Orrin, et al.
Publicado: (2021)

Electrophysiological biomarkers of brain function in CDKL5 deficiency disorder
por: Saby, Joni N, et al.
Publicado: (2022)

CDKL5 Deficiency Disorder (CDD)—Rare Presentation in Male
por: Rodak, Małgorzata, et al.
Publicado: (2022)

Ganaxolone: A New Treatment for CDKL5 Deficiency Disorder
por: Vossler, David G.
Publicado: (2022)

Epileptic spasms with terror during sleep in CDKL5 encephalopathy
por: Melikishvili, Gia, et al.
Publicado: (2022)

Mutation in an alternative transcript of CDKL5 in a boy with early-onset seizures
por: Bodian, Dale L., et al.
Publicado: (2018)

Mapping Pathological Phenotypes in a Mouse Model of CDKL5 Disorder
por: Amendola, Elena, et al.
Publicado: (2014)

CDKL5 and Shootin1 Interact and Concur in Regulating Neuronal Polarization
por: Nawaz, Mohammad Sarfaraz, et al.
Publicado: (2016)

CDKL5 regulates flagellar length and localizes to the base of the flagella in Chlamydomonas
por: Tam, Lai-Wa, et al.
Publicado: (2013)

CDKL5 localizes at the centrosome and midbody and is required for faithful cell division
por: Barbiero, Isabella, et al.
Publicado: (2017)

Rett Syndrome and CDKL5 Deficiency Disorder: From Bench to Clinic
por: Kadam, Shilpa D., et al.
Publicado: (2019)

Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder
por: Olson, Heather E., et al.
Publicado: (2021)

CDKL5 kinase controls transcription‐coupled responses to DNA damage
por: Khanam, Taran, et al.
Publicado: (2021)

Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome
por: Mangatt, Meghana, et al.
Publicado: (2016)

CDKL5 variants: Improving our understanding of a rare neurologic disorder
por: Hector, Ralph D., et al.
Publicado: (2017)

CDKL-5 Encephalopathy in an Indian Girl: Partial Response to the Modified Atkins Diet
por: Sharma, Suvasini, et al.
Publicado: (2017)

Artificial escape from XCI by DNA methylation editing of the CDKL5 gene
por: Halmai, Julian A N M, et al.
Publicado: (2020)

International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder
por: Amin, Sam, et al.
Publicado: (2022)

Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder
por: Wong, Kingsley, et al.
Publicado: (2022)

A Potent and Selective CDKL5/GSK3 Chemical Probe is Neuroprotective
por: Ong, Han Wee, et al.
Publicado: (2023)

CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome
por: Specchio, Nicola, et al.
Publicado: (2023)

A new consensus for evaluating CDKL5/STK9‐dependent signalling mechanisms
por: Eyers, Patrick A
Publicado: (2018)

CDKL3 Targets ATG5 to Promote Carcinogenesis of Esophageal Squamous Cell Carcinoma
por: Zhou, Suna, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_5e702pu9654r0u8ivskdib9eoq