Laminopathies; Mutations on single gene and various human genetic diseases.

Abstract excerpt

Lamin A and its alternative splicing product Lamin C are the key intermediate filaments (IFs) of the inner nuclear membrane intermediate filament. Lamin A/C forms the inner nuclear mesh with Lamin B and works as a frame with a nuclear shape. In addition to supporting the function of nucleus, nuclear lamins perform important roles such as holding the nuclear pore complex and chromatin. However, mutations on the...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Disease Models, Animal
• Share to Enzyme Inhibitors
• Share to Lamin Type A