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Invertebrate models of lamin diseases
Lamins are evolutionarily conserved nuclear intermediate filament proteins. They provide structural support for the nucleus and help regulate many other nuclear activities. Mutations in human lamin genes, and especially in the LMNA gene, cause numerous diseases, termed laminopathies, including muscl...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Taylor & Francis
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5973256/ https://www.ncbi.nlm.nih.gov/pubmed/29557730 http://dx.doi.org/10.1080/19491034.2018.1454166 |
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author | Rzepecki, Ryszard Gruenbaum, Yosef |
author_facet | Rzepecki, Ryszard Gruenbaum, Yosef |
author_sort | Rzepecki, Ryszard |
collection | PubMed |
description | Lamins are evolutionarily conserved nuclear intermediate filament proteins. They provide structural support for the nucleus and help regulate many other nuclear activities. Mutations in human lamin genes, and especially in the LMNA gene, cause numerous diseases, termed laminopathies, including muscle, cardiac, metabolic, neuronal and early aging diseases. Most laminopathies arise from autosomal dominant missense mutations. Many of the mutant residues are conserved in the lamin genes of the nematode Caenorhabditis elegans and the fruit fly Drosophila melanogaster. Our current understanding of the mechanisms leading to these diseases is mostly based on patients cell lines and animal models including C. elegans and D. melanogaster. The simpler lamin system and the powerful genetic tools offered by these invertebrate organisms greatly contributed to such studies. Here we provide an overview of the studies of laminopathies in Drosophila and C. elegans models. |
format | Online Article Text |
id | pubmed-5973256 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Taylor & Francis |
record_format | MEDLINE/PubMed |
spelling | pubmed-59732562018-05-31 Invertebrate models of lamin diseases Rzepecki, Ryszard Gruenbaum, Yosef Nucleus Laminopathies Lamins are evolutionarily conserved nuclear intermediate filament proteins. They provide structural support for the nucleus and help regulate many other nuclear activities. Mutations in human lamin genes, and especially in the LMNA gene, cause numerous diseases, termed laminopathies, including muscle, cardiac, metabolic, neuronal and early aging diseases. Most laminopathies arise from autosomal dominant missense mutations. Many of the mutant residues are conserved in the lamin genes of the nematode Caenorhabditis elegans and the fruit fly Drosophila melanogaster. Our current understanding of the mechanisms leading to these diseases is mostly based on patients cell lines and animal models including C. elegans and D. melanogaster. The simpler lamin system and the powerful genetic tools offered by these invertebrate organisms greatly contributed to such studies. Here we provide an overview of the studies of laminopathies in Drosophila and C. elegans models. Taylor & Francis 2018-04-16 /pmc/articles/PMC5973256/ /pubmed/29557730 http://dx.doi.org/10.1080/19491034.2018.1454166 Text en © 2018 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group. http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Laminopathies Rzepecki, Ryszard Gruenbaum, Yosef Invertebrate models of lamin diseases |
title | Invertebrate models of lamin diseases |
title_full | Invertebrate models of lamin diseases |
title_fullStr | Invertebrate models of lamin diseases |
title_full_unstemmed | Invertebrate models of lamin diseases |
title_short | Invertebrate models of lamin diseases |
title_sort | invertebrate models of lamin diseases |
topic | Laminopathies |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5973256/ https://www.ncbi.nlm.nih.gov/pubmed/29557730 http://dx.doi.org/10.1080/19491034.2018.1454166 |
work_keys_str_mv | AT rzepeckiryszard invertebratemodelsoflamindiseases AT gruenbaumyosef invertebratemodelsoflamindiseases |