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

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

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Detalles Bibliográficos
Autores principales: Kessi, Miriam, Chen, Baiyu, Pan, Langui, Yang, Li, Yang, Lifen, Peng, Jing, He, Fang, Yin, Fei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Molecular Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10336228/
https://www.ncbi.nlm.nih.gov/pubmed/37448958
http://dx.doi.org/10.3389/fnmol.2023.1209760

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10336228/
https://www.ncbi.nlm.nih.gov/pubmed/37448958
http://dx.doi.org/10.3389/fnmol.2023.1209760

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