Amyotrophic Lateral Sclerosis Genes in Drosophila melanogaster
| Autor: | Sophie Layalle, Laetitia They, Cédric Raoul, L. Soustelle, Sarah Ourghani |
|---|---|
| Přispěvatelé: | Raoul, Cédric, Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Kazan Federal University (KFU), Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM) |
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
TDP-43
[SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology SOD1 Chromosome 9 Review TARDBP Catalysis lcsh:Chemistry Inorganic Chemistry 03 medical and health sciences 0302 clinical medicine C9orf72 medicine Animals Drosophila Proteins Humans Physical and Theoretical Chemistry Amyotrophic lateral sclerosis lcsh:QH301-705.5 Molecular Biology Gene Spectroscopy 030304 developmental biology FUS Genetics 0303 health sciences C9orf72 Protein Heterogeneous-Nuclear Ribonucleoprotein Group F-H biology Superoxide Dismutase Organic Chemistry Amyotrophic Lateral Sclerosis [SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology Neurodegenerative Diseases General Medicine biology.organism_classification medicine.disease Phenotype 3. Good health Computer Science Applications DNA-Binding Proteins Disease Models Animal Drosophila melanogaster lcsh:Biology (General) lcsh:QD1-999 030217 neurology & neurosurgery |
| Zdroj: | International Journal of Molecular Sciences International Journal of Molecular Sciences, MDPI, 2021, 22 (2), pp.904. ⟨10.3390/ijms22020904⟩ International Journal of Molecular Sciences, Vol 22, Iss 904, p 904 (2021) Int. J. Mol. Sci. |
| ISSN: | 1661-6596 1422-0067 |
| Popis: | Amyotrophic lateral sclerosis (ALS) is a devastating adult-onset neurodegenerative disease characterized by the progressive degeneration of upper and lower motoneurons. Most ALS cases are sporadic but approximately 10% of ALS cases are due to inherited mutations in identified genes. ALS-causing mutations were identified in over 30 genes with superoxide dismutase-1 (SOD1), chromosome 9 open reading frame 72 (C9orf72), fused in sarcoma (FUS), and TAR DNA-binding protein (TARDBP, encoding TDP-43) being the most frequent. In the last few decades, Drosophila melanogaster emerged as a versatile model for studying neurodegenerative diseases, including ALS. In this review, we describe the different Drosophila ALS models that have been successfully used to decipher the cellular and molecular pathways associated with SOD1, C9orf72, FUS, and TDP-43. The study of the known fruit fly orthologs of these ALS-related genes yielded significant insights into cellular mechanisms and physiological functions. Moreover, genetic screening in tissue-specific gain-of-function mutants that mimic ALS-associated phenotypes identified disease-modifying genes. Here, we propose a comprehensive review on the Drosophila research focused on four ALS-linked genes that has revealed novel pathogenic mechanisms and identified potential therapeutic targets for future therapy. |
| Databáze: | OpenAIRE |
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