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- W3025203224 endingPage "9073" @default.
- W3025203224 startingPage "9051" @default.
- W3025203224 abstract "Laminopathies are rare diseases associated with mutations in LMNA, which encodes nuclear lamin A/C. LMNA variants lead to diverse tissue-specific phenotypes including cardiomyopathy, lipodystrophy, myopathy, neuropathy, progeria, bone/skin disorders, and overlap syndromes. The mechanisms underlying these heterogeneous phenotypes remain poorly understood, although post-translational modifications, including phosphorylation, are postulated as regulators of lamin function. We catalogued all known lamin A/C human mutations and their associated phenotypes, and systematically examined the putative role of phosphorylation in laminopathies. In silico prediction of specific LMNA mutant-driven changes to lamin A phosphorylation and protein structure was performed using machine learning methods. Some of the predictions we generated were validated via assessment of ectopically expressed wild-type and mutant LMNA. Our findings indicate phenotype- and mutant-specific alterations in lamin phosphorylation, and that some changes in phosphorylation may occur independently of predicted changes in lamin protein structure. Therefore, therapeutic targeting of phosphorylation in the context of laminopathies will likely require mutant- and kinase-specific approaches." @default.
- W3025203224 created "2020-05-21" @default.
- W3025203224 creator A5007337339 @default.
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- W3025203224 creator A5061959901 @default.
- W3025203224 creator A5081782319 @default.
- W3025203224 creator A5085497637 @default.
- W3025203224 date "2020-05-15" @default.
- W3025203224 modified "2023-10-17" @default.
- W3025203224 title "Genotype‐phenotype analysis of<i>LMNA</i>‐related diseases predicts phenotype‐selective alterations in lamin phosphorylation" @default.
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- W3025203224 doi "https://doi.org/10.1096/fj.202000500r" @default.
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- W3025203224 hasPublicationYear "2020" @default.
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