Open Close
Reference
Citation
Rzepecki, R., Gruenbaum, Y. (2018). Invertebrate models of lamin diseases.  Nucleus 9(1): 227--234.
FlyBase ID
FBrf0238638
Publication Type
Review
Abstract
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.
PubMed ID
PubMed Central ID
PMC5973256 (PMC) (EuropePMC)
Associated Information
Comments
Associated Files
Other Information
Secondary IDs
    Language of Publication
    English
    Additional Languages of Abstract
    Parent Publication
    Publication Type
    Journal
    Abbreviation
    Nucleus
    Title
    Nucleus
    ISBN/ISSN
    1949-1034 1949-1042
    Data From Reference
    Genes (2)
    Human Disease Models (3)