Life at the edge: the nuclear envelope and human disease
B Burke, CL Stewart - Nature reviews Molecular cell biology, 2002 - nature.com
B Burke, CL Stewart
Nature reviews Molecular cell biology, 2002•nature.comA group of human diseases, known as' laminopathies', are associated with defects in
proteins of the nuclear envelope. Most laminopathy mutations have been mapped to the A-
type lamin gene, which is expressed in most adult cell types. So, why should different
mutations in a near-ubiquitously expressed gene be associated with various discrete tissue-
restricted diseases? Attempts to resolve this paradox are uncovering new molecular
interactions—both inside the nucleus and at its periphery—which indicate that the nuclear …
proteins of the nuclear envelope. Most laminopathy mutations have been mapped to the A-
type lamin gene, which is expressed in most adult cell types. So, why should different
mutations in a near-ubiquitously expressed gene be associated with various discrete tissue-
restricted diseases? Attempts to resolve this paradox are uncovering new molecular
interactions—both inside the nucleus and at its periphery—which indicate that the nuclear …
Abstract
A group of human diseases, known as 'laminopathies', are associated with defects in proteins of the nuclear envelope. Most laminopathy mutations have been mapped to the A-type lamin gene, which is expressed in most adult cell types. So, why should different mutations in a near-ubiquitously expressed gene be associated with various discrete tissue-restricted diseases? Attempts to resolve this paradox are uncovering new molecular interactions — both inside the nucleus and at its periphery — which indicate that the nuclear envelope has functions that go beyond mere housekeeping.
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