The laminopathies: the functional architecture of the nucleus and its contribution to disease.
Most inherited diseases are associated with mutations in a specific gene. Often, mutations in two or more different genes result in diseases with a similar phenotype. Rarely do different mutations in the same gene result in a multitude of seemingly different and unrelated diseases. Mutations in the Lamin A gene (LMNA), which encodes largely ubiquitously expressed nuclear proteins (A-type lamins), are associated with at least eight different diseases, collectively called the laminopathies. Studies examining how different tissue-specific diseases arise from unique LMNA mutations are providing unanticipated insights into the structural organization of the nucleus, and how disruption of this organization relates to novel mechanisms of disease.
Burke
Brian
B
Department of Anatomy and Cell Biology, University of Florida, Gainesville, Florida 32610
Stewart
Colin L
CL
D002467:Cell Nucleus / Q000737:chemistry* / Q000473:pathology; D020022:Genetic Predisposition to Disease; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D009154:Mutation
D034904:Lamin Type A