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Article

Ryanodine receptor remodeling in cardiomyopathy and muscular dystrophy caused by lamin A/C gene mutation.

Human molecular genetics - 25 Feb 2021

Dridi Haikel, Wu Wei, Reiken Steven R, Ofer Rachel M, Liu Yang, Yuan Qi, Sittenfeld Leah, Kushner Jared, Muchir Antoine, Worman Howard J, Marks Andrew R

Abstract excerpt

Mutations in the lamin A/C gene (LMNA), which encodes A-type lamins, cause several diseases called laminopathies, the most common of which is dilated cardiomyopathy with muscular dystrophy. The role of Ca2+ regulation in these diseases remain poorly understood. We now show biochemical remodeling of the ryanodine receptor (RyR)/intracellular Ca2+ release channel in heart samples from human subjects with LMNA...

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Identifiers

PMID: 33388782
DOI: 10.1093/hmg/ddaa278
PMCID: PMC7906753

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