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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| Hauptverfasser: | , , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
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Frontiers Media S.A.
2023-06-01
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| Schriftenreihe: | Frontiers in Molecular Neuroscience |
| Schlagworte: | |
| Online-Zugang: | https://www.frontiersin.org/articles/10.3389/fnmol.2023.1209760/full |
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