Disruption of mitochondrial and lysosomal functions by human CACNA1C variants expressed in HEK 293 and CHO cells

Disruption of mitochondrial and lysosomal functions by human CACNA1C variants expressed in HEK 293 and CHO cells

ObjectiveTo investigate the pathogenesis of three novel de novo CACNA1C variants (p.E411D, p.V622G, and p.A272V) in causing neurodevelopmental disorders and arrhythmia.MethodsSeveral molecular experiments were carried out on transfected human embryonic kidney 293 (HEK 293) and Chinese hamster ovary...

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Bibliographic Details
Main Authors: Miriam Kessi, Baiyu Chen, Langui Pan, Li Yang, Lifen Yang, Jing Peng, Fang He, Fei Yin
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-06-01
Series:Frontiers in Molecular Neuroscience
Subjects:
CACNA1C
molecular mechanisms
mitochondrial dysfunction
lysosomal dysfunction
mitochondrial fusion
mitochondrial fission
Online Access:https://www.frontiersin.org/articles/10.3389/fnmol.2023.1209760/full

Internet

https://www.frontiersin.org/articles/10.3389/fnmol.2023.1209760/full

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