When Lamins Go Bad: Nuclear Structure and Disease

Mutations in nuclear lamins or other proteins of the nuclear envelope are the root cause of a group of phenotypically diverse genetic disorders known as laminopathies, which have symptoms that range from muscular dystrophy to neuropathy to premature aging syndromes. Although precise disease mechanis...

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Bibliographic Details
Published in:Cell 2013-03, Vol.152 (6), p.1365-1375
Main Authors: Schreiber, Katherine H., Kennedy, Brian K.
Format: Article
Language:English
Subjects:
Animals
Cell Nucleus - metabolism
Cell Nucleus - pathology
Disease - genetics
genetic disorders
Humans
Lamins - genetics
Lamins - metabolism
Metabolic Diseases - genetics
Metabolic Diseases - metabolism
Metabolic Diseases - pathology
Muscular Diseases - genetics
Muscular Diseases - metabolism
Muscular Diseases - pathology
muscular dystrophy
Mutation
Nuclear Envelope - metabolism
nuclear membrane
nuclear proteins
peripheral nervous system diseases
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Summary:Mutations in nuclear lamins or other proteins of the nuclear envelope are the root cause of a group of phenotypically diverse genetic disorders known as laminopathies, which have symptoms that range from muscular dystrophy to neuropathy to premature aging syndromes. Although precise disease mechanisms remain unclear, there has been substantial progress in our understanding of not only laminopathies, but also the biological roles of nuclear structure. Nuclear envelope dysfunction is associated with altered nuclear activity, impaired structural dynamics, and aberrant cell signaling. Building on these findings, small molecules are being discovered that may become effective therapeutic agents.
ISSN:0092-8674
1097-4172
DOI:10.1016/j.cell.2013.02.015