Abnormalities of mitochondrial dynamics and bioenergetics in neuronal cells from CDKL5 deficiency disorder

Abnormalities 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...

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Bibliographic Details
Main Authors: Nicole J. Van Bergen, Sean Massey, Tegan Stait, Molly Ellery, Boris Reljić, Luke E. Formosa, Anita Quigley, Mirella Dottori, David Thorburn, David A. Stroud, John Christodoulou
Format: Article
Language:English
Published: Elsevier 2021-07-01
Series:Neurobiology of Disease
Subjects:
CDKL5
CDKL5 deficiency disorder
Mitochondria
Induced pluripotent stem cell
Oxidative phosphorylation
Proteomics
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996121001194

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http://www.sciencedirect.com/science/article/pii/S0969996121001194

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