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

Miriam Kessi,Baiyu Chen,Langui Pan,Li Yang,Lifen Yang,Jing Peng,Fang He,Fei Yin

Frontiers in molecular neuroscience（2023）

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摘要

The p.E411D, p.V622G and p.A272V mutations of human reduce the expression level of proteins, and impair mitochondrial and lysosomal functions. These effects induced by variants may contribute to the pathogenesis of -related disorders.

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关键词

human cacna1c variants,mitochondrial cells,lysosomal functions

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