title: The laminopathies: the functional architecture of the nucleus and its contribution to disease.
abstract: 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.
authors.affiliation: Department of Anatomy and Cell Biology, University of Florida, Gainesville, Florida 32610
authors.forename: Brian
authors.initials: B
authors.lastname: Burke
authors.forename: Colin L
authors.initials: CL
authors.lastname: Stewart
mesh_terms: D002467:Cell Nucleus / Q000737:chemistry* / Q000473:pathology; D020022:Genetic Predisposition to Disease; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D009154:Mutation
chemical_list: D034904:Lamin Type A