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Nuclear envelope structure and human disease

My research concerns mechanisms by which defects in genes encoding nuclear envelope proteins give rise to diseases such as dilated cardiomyopathy (DCM) and muscular dystrophy. This work reveals how nuclear structures are integrated with cytoplasmic components via LINC (Linker of Nucleoskeleton and Cytoskeleton) complexes, and has recently led to the development of a gene therapy for lamin A-linked DCM.