title: [NESPRINS--nuclear envelope proteins ensuring integrity].
abstract: This review describes the nesprins (nuclear envelope spectrin-repeat proteins), which are recently discovered family of nuclear envelope proteins. These proteins play an important role in maintaining the cellular architecture and establish the link between the nucleus and other sub-cellular compartments. Many tissue-specific diseases including lipodystrophies, hearing loss, cardiac and skeletal myopathies are associated with nesprins mutations. These proteins comprise of multiple tissue specific isoforms which contain spectrin repeats providing interaction of nesprins with other nuclear membrane proteins, cytoskeleton and intranuclear matrix. We summarize recent findings and suggestions about nesprins structural organization and function inside the cell. Human diseases caused by abnormal nesprins expression are also described.
authors.forename: E G
authors.initials: EG
authors.lastname: Pershina
authors.forename: K N
authors.initials: KN
authors.lastname: Morozova
authors.forename: E V
authors.initials: EV
authors.lastname: Kiseleva
mesh_terms: D000818:Animals; D003599:Cytoskeleton / Q000737:chemistry / Q000378:metabolism; D003600:Cytosol / Q000378:metabolism; D015870:Gene Expression; D034381:Hearing Loss / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D006801:Humans; D008060:Lipodystrophy / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D008565:Membrane Proteins / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*; D008840:Microfilament Proteins / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D009154:Mutation; D009685:Nuclear Envelope / Q000737:chemistry / Q000378:metabolism*; D009687:Nuclear Proteins / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*; D020033:Protein Isoforms / Q000737:chemistry / Q000235:genetics / Q000378:metabolism
chemical_list: D008565:Membrane Proteins; D008840:Microfilament Proteins; D009687:Nuclear Proteins; D020033:Protein Isoforms