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- W2895374294 abstract "The nuclear lamins are important members of the intermediate filament (IF) family of proteins, involved in structural support and regulation of the nuclear lamina. Different mutations in various members of these type V IF proteins produce a staggering range of human disease phenotypes, which collectively have been termed “laminopathies.” Compelling examples are the wide range of inherited disorders that result from rare variants in LMNA encoding lamin A/C. These laminopathies include skeletal and cardiac muscle disorders, neuropathies, multisystem progeroid disorders, and lipodystrophies, of which the latter are associated with several metabolic complications. Functions of lamin A/C that have been shown to be compromised by distinct mutations in LMNA include loss of nuclear structural integrity, altered interaction with transcription factors, and changes to post‐translational processing of pre‐lamins. Recently, evidence has emerged that certain LMNA mutations, such as those causing partial lipodystrophy, alter the interaction between chromatin and lamin A, in turn affecting the spatial orientation and distribution of chromatin within the nucleus. Because chromatin organization is exquisitely tied to global patterns of gene expression, the findings suggest a novel mechanism to explain the tissue‐specific impact of a subset of laminopathy‐associated LMNA mutations." @default.
- W2895374294 created "2018-10-12" @default.
- W2895374294 creator A5012038189 @default.
- W2895374294 creator A5044540831 @default.
- W2895374294 date "2018-10-23" @default.
- W2895374294 modified "2023-09-27" @default.
- W2895374294 title "Complex effects of laminopathy mutations on nuclear structure and function" @default.
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- W2895374294 doi "https://doi.org/10.1111/cge.13455" @default.
- W2895374294 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30280378" @default.
- W2895374294 hasPublicationYear "2018" @default.
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