Articles with "q517x" as a keyword



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Role of Nuclear Lamin A/C in the Regulation of Nav1.5 Channel and Microtubules: Lesson From the Pathogenic Lamin A/C Variant Q517X

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Published in 2022 at "Frontiers in Cell and Developmental Biology"

DOI: 10.3389/fcell.2022.918760

Abstract: In this work, we studied an lmna nonsense mutation encoding for the C-terminally truncated Lamin A/C (LMNA) variant Q517X, which was described in patients affected by a severe arrhythmogenic cardiomyopathy with history of sudden death.… read more here.

Keywords: nav1 channel; q517x; variant q517x; tubulin ... See more keywords