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KMID : 0624620180510070327
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BMB Reports
2018 Volume.51 No. 7 p.327 ~ p.337
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Laminopathies; Mutations on single gene and various human genetic diseases
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Kang So-Mi
Yoon Min-Ho
Park Bum-Joon
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Abstract
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Lamin A and its alternative splicing product Lamin C are the key intermediate filaments (IFs) of the inner nuclear membrane intermediate filament. Lamin A/C forms the inner nuclear mesh with Lamin B and works as a frame with a nuclear shape. In addition to supporting the function of nucleus, nuclear lamins perform important roles such as holding the nuclear pore complex and chromatin. However, mutations on the Lamin A or Lamin B related proteins induce various types of human genetic disorders and diseases including premature aging syndromes, muscular dystrophy, lipodystrophy and neuropathy. In this review, we briefly overview the relevance of genetic mutations of Lamin A, human disorders and laminopathies. We also discuss a mouse model for genetic diseases. Finally, we describe the current treatment for laminopathies.
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KEYWORD
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EDMD, HGPS, Lamin A, Laminopathy, Nuclear membrane
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