2011
DOI: 10.1002/path.2999
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Nuclear lamins and laminopathies

Abstract: Nuclear lamins are intermediate filament proteins that polymerize to form the nuclear lamina on the inner aspect of the inner nuclear membrane. Long known to be essential for maintaining nuclear structure and disassembling/reassembling during mitosis in metazoans, research over the past dozen years has shown that mutations in genes encoding nuclear lamins, particularly LMNA encoding the A-type lamins, cause a broad range of diverse diseases, often referred to as laminopathies. Lamins are expressed in all mamma… Show more

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Cited by 355 publications
(344 citation statements)
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References 109 publications
(130 reference statements)
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“…Lamins are intermediate filaments that line the inner nuclear membrane, providing structural support for the nucleus and organizing the genomic DNA (Ahmed et al., 2017; Azibani, Muchir, Vignier, Bonne & Bertrand, 2014; Guenantin et al., 2014; Wang, Zabell, Koh & Tang, 2017; Worman, 2012). Over 400 mutations have been identified in the LMNA gene (Dittmer & Misteli, 2011; Gruenbaum & Foisner, 2015).…”
Section: Introductionmentioning
confidence: 99%
“…Lamins are intermediate filaments that line the inner nuclear membrane, providing structural support for the nucleus and organizing the genomic DNA (Ahmed et al., 2017; Azibani, Muchir, Vignier, Bonne & Bertrand, 2014; Guenantin et al., 2014; Wang, Zabell, Koh & Tang, 2017; Worman, 2012). Over 400 mutations have been identified in the LMNA gene (Dittmer & Misteli, 2011; Gruenbaum & Foisner, 2015).…”
Section: Introductionmentioning
confidence: 99%
“…Hereditary laminopathies are therefore caused by mutations in genes encoding lamins (primary forms) or proteins implicated in their maturation, such as ZMPSTE24, and in genes encoding their partners (secondary forms; Schreiber & Kennedy, 2013; Worman, 2012; Worman & Bonne, 2007). Laminopathies can also be acquired.…”
Section: Lamins and Laminopathiesmentioning
confidence: 99%
“…Since then, the number of these diseases has increased. Mutations in LMNA or ZMPSTE24 cause many different phenotypes, which can be classified in multisystem diseases or tissue‐specific phenotypes (Worman, 2012; Worman & Bonne, 2007). Table 1 summarizes this classification: The multisystem diseases correspond mostly to accelerated aging disorders including progeria and other progeroid syndromes, whereas the tissue‐specific diseases contain lipodystrophic syndromes, striated muscle diseases, and an axonal peripheral neuropathy.…”
Section: Lamins and Laminopathiesmentioning
confidence: 99%
“…We acknowledge that identifying families or communities of overlapping but still distinct syndromes, that are caused by mutations in the same gene or by genes working in the same pathway or network, can be very helpful for patient care and research alike [Pinsky, 1974;Brunner and van Driel, 2004]. Examples are the ciliopathies [Davis and Katsanis, 2012], rasopathies [Tidyman and Rauen, 2009], and laminopathies [Worman, 2012].…”
Section: Syndromementioning
confidence: 99%