Buchwalter Lab

Research focus

NIH R01 · 2024

Exploring modulation of Lamin A/C protein lifetime as a novel axis of regulation in heath and disease

Summary / Abstract The nuclear Lamins are intermediate filament proteins that underlie the nuclear envelope. Lamins assemble into bundled filaments that strengthen the nucleus and scaffold the genome. The LMNA locus encodes the Lamin A and C proteins; hundreds of mutations to LMNA have been linked to more than 10 distinct syndromes, collectively referred to as “laminopathies”. Disease-linked LMNA mutations are found in every domain of these proteins, and no clear genotype-phenotype correlations exist. LMNA-linked laminopathies primarily afflict the cardiovascular system, muscle, skin, connective tissue, bone, and fat. A major goal of our research program is to determine why specific tissues…

From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.