年間 6 号発行
ISSN 印刷: 1045-4403
ISSN オンライン: 2162-6502
Indexed in
Involvement of Prelamin A in Laminopathies
要約
The precursor protein of the nuclear lamina constituent lamin A is a 74-kDa protein called prelamin A which undergoes subsequent steps of posttranslational modification at its C-terminal CaaX residue. The unexpected finding that accumulation of unprocessable prelamin A is the molecular basis of the most severe laminopathies so far identified, including HutchinsonGilford progeria and restrictive dermopathy, has opened new perspectives in the study of the pathogenic mechanisms causing all lamin A/C-linked disorders, as well as new interest in the analysis of molecular mechanisms regulating prelamin A processing. However, complete knowledge of the cellular pathways affected downstream of prelamin A accumulation is still lacking, but it could give new insights both in normal and pathogenic mechanisms regulated by lamins. In this article, we review the involvement of defects of prelamin A processing in the pathogenesis of a group of laminopathies. In particular, we discuss the possibility that mutations leading to accumulation of particular forms of prelamin A result in specific nuclear abnormalities and impairment of nuclear functions leading to cell senescence or altered metabolism.
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Camozzi Daria, D’Apice Maria Rosaria, Schena Elisa, Cenni Vittoria, Columbaro Marta, Capanni Cristina, Maraldi Nadir M., Squarzoni Stefano, Ortolani Michela, Novelli Giuseppe, Lattanzi Giovanna, Altered chromatin organization and SUN2 localization in mandibuloacral dysplasia are rescued by drug treatment, Histochemistry and Cell Biology, 138, 4, 2012. Crossref
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Maraldi Nadir M., Lattanzi Giovanna, Cenni Vittoria, Bavelloni Alberto, Marmiroli Sandra, Manzoli Francesco A., Laminopathies and A-type lamin-associated signalling pathways, Advances in Enzyme Regulation, 50, 1, 2010. Crossref
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Capanni Cristina, Squarzoni Stefano, Cenni Vittoria, D’Apice Maria Rosaria, Gambineri Alessandra, Novelli Giuseppe, Wehnert Manfred, Pasquali Renato, Maraldi Nadir M., Lattanzi Giovanna, Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution, Cell Cycle, 11, 19, 2012. Crossref
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Zini Nicoletta, Avnet Sofia, Ghisu Sonia, Maraldi Nadir Mario, Squarzoni Stefano, Baldini Nicola, Lattanzi Giovanna, Effects of prelamin A processing inhibitors on the differentiation and activity of human osteoclasts, Journal of Cellular Biochemistry, 105, 1, 2008. Crossref
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Rivas D., Li W., Akter R., Henderson J. E., Duque G., Accelerated Features of Age-Related Bone Loss in Zmpste24 Metalloproteinase-Deficient Mice, The Journals of Gerontology Series A: Biological Sciences and Medical Sciences, 64A, 10, 2009. Crossref
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Marmiroli Sandra, Bertacchini Jessika, Beretti Francesca, Cenni Vittoria, Guida Marianna, De Pol Anto, Maraldi Nadir M., Lattanzi Giovanna, A-type lamins and signaling: The PI 3-kinase/Akt pathway moves forward, Journal of Cellular Physiology, 220, 3, 2009. Crossref
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Maraldi Nadir M., Capanni Cristina, Cenni Vittoria, Fini Milena, Lattanzi Giovanna, Laminopathies and lamin-associated signaling pathways, Journal of Cellular Biochemistry, 112, 4, 2011. Crossref
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Maraldi Nadir M., Capanni Cristina, Del Coco Rosalba, Squarzoni Stefano, Columbaro Marta, Mattioli Elisabetta, Lattanzi Giovanna, Manzoli Francesco A., Muscular laminopathies: Role of prelamin A in early steps of muscle differentiation, Advances in Enzyme Regulation, 51, 1, 2011. Crossref
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Mattioli E, Columbaro M, Capanni C, Maraldi N M, Cenni V, Scotlandi K, Marino M T, Merlini L, Squarzoni S, Lattanzi G, Prelamin A-mediated recruitment of SUN1 to the nuclear envelope directs nuclear positioning in human muscle, Cell Death & Differentiation, 18, 8, 2011. Crossref
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Maraldi Nadir M., Capanni Cristina, Lattanzi Giovanna, Camozzi Daria, Facchini Andrea, Manzoli Francesco A., SREBP1 interaction with prelamin A forms: A pathogenic mechanism for lipodystrophic laminopathies, Advances in Enzyme Regulation, 48, 1, 2008. Crossref
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Casasola Andrea, Scalzo David, Nandakumar Vivek, Halow Jessica, Recillas-Targa Félix, Groudine Mark, Rincón-Arano Héctor, Prelamin A processing, accumulation and distribution in normal cells and laminopathy disorders, Nucleus, 7, 1, 2016. Crossref
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Celli Florian, Petitalot Ambre, Samson Camille, Theillet François-Xavier, Zinn-Justin Sophie, 1H, 13C and 15N backbone resonance assignment of the lamin C-terminal region specific to prelamin A, Biomolecular NMR Assignments, 12, 2, 2018. Crossref
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Maraldi Nadir M., Lattanzi Giovanna, Laminopathies, in Cytoskeleton and Human Disease, 2012. Crossref
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Lattanzi Giovanna, Prelamin A-mediated nuclear envelope dynamics in normal and laminopathic cells, Biochemical Society Transactions, 39, 6, 2011. Crossref
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Lattanzi Giovanna, Ortolani Michela, Columbaro Marta, Prencipe Sabino, Mattioli Elisabetta, Lanzarini Catia, Maraldi Nadir M., Cenni Vittoria, Garagnani Paolo, Salvioli Stefano, Storci Gianluca, Bonafè Massimiliano, Capanni Cristina, Franceschi Claudio, Centenarian lamins: rapamycin targets in longevity, Journal of Cell Science, 2013. Crossref
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Wu Jing, Guan Fei, Luo Wei, Yuan Zhi‐Wei, Chen Rong‐Qiong, Gou Xin, Shi Xin, Guo Hai‐Xiang, Fang Ke‐Wei, Retracted : Prelamin A overexpression promotes detrusor calcification/aging in urinary incontinence via prelamin A accumulation , Journal of Cellular Physiology, 234, 10, 2019. Crossref