title: Nuclear lamins, diseases and aging.
abstract: Nuclear lamins are type V intermediate filament proteins. They are the major building blocks of the peripheral nuclear lamina, a complex meshwork of proteins underlying the inner nuclear membrane. In addition to providing nuclear shape and mechanical stability, they are required for chromatin organization, transcription regulation, DNA replication, nuclear assembly and nuclear positioning. Over the past few years, interest in the lamins has increased because of the identification of at least 12 distinct human diseases associated with mutations in the LMNA gene, which encodes A-type lamins. These diseases, collectively termed laminopathies, affect muscle, adipose, bone, nerve and skin cells and range from muscular dystrophies to accelerated aging.
authors.affiliation: Department of Genetics, The Institute of Life Sciences, The Hebrew University of Jerusalem, Jerusalem 91904, Israel.
authors.forename: Anna
authors.initials: A
authors.lastname: Mattout
authors.forename: Thomas
authors.initials: T
authors.lastname: Dechat
authors.forename: Stephen A
authors.initials: SA
authors.lastname: Adam
authors.forename: Robert D
authors.initials: RD
authors.lastname: Goldman
authors.forename: Yosef
authors.initials: Y
authors.lastname: Gruenbaum
mesh_terms: D000375:Aging / Q000235:genetics*; D000595:Amino Acid Sequence; D000818:Animals; D002467:Cell Nucleus / Q000378:metabolism; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D007381:Intermediate Filament Proteins / Q000378:metabolism; D034904:Lamin Type A / Q000172:deficiency / Q000235:genetics; D034882:Lamins / Q000378:metabolism*; D008954:Models, Biological; D008958:Models, Molecular; D008969:Molecular Sequence Data; D009154:Mutation
chemical_list: D007381:Intermediate Filament Proteins; C494847:LMNA protein, human; D034904:Lamin Type A; D034882:Lamins