The laminopathies are a group of rare diseases characterized by a vast range of phenotypic alterations, due to mutations in lamin A and C or other nuclear envelope proteins. A-type lamins, as well as B-type lamins, belong to the type V intermediate filaments and, by polymerization, form the nuclear lamina, a component of the nuclear envelope. Following a brief description of the complex interactions between lamins and proteins of the nuclear membrane, this Chapter describes disease phenotypes that characterize each laminopathy, the possible mechanisms involved into the pathogenesis, as well as potential therapies based on the use of existing drugs.
Laminopathies
Giovanna Lattanzi
2012
Abstract
The laminopathies are a group of rare diseases characterized by a vast range of phenotypic alterations, due to mutations in lamin A and C or other nuclear envelope proteins. A-type lamins, as well as B-type lamins, belong to the type V intermediate filaments and, by polymerization, form the nuclear lamina, a component of the nuclear envelope. Following a brief description of the complex interactions between lamins and proteins of the nuclear membrane, this Chapter describes disease phenotypes that characterize each laminopathy, the possible mechanisms involved into the pathogenesis, as well as potential therapies based on the use of existing drugs.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
