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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...

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Autores principales: Rzepecki, Ryszard, Gruenbaum, Yosef
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2018
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.
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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
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