Matches in SemOpenAlex for { <https://semopenalex.org/work/W2135184488> ?p ?o ?g. }
- W2135184488 abstract "The neurological movement disorder dystonia is an umbrella term for a heterogeneous group of related conditions where at least 20 monogenic forms have been identified. Despite the substantial advances resulting from the identification of these loci, the function of many DYT gene products remains unclear. Comparative genomics using simple animal models to examine the evolutionarily conserved functional relationships with monogenic dystonias represents a rapid route toward a comprehensive understanding of these movement disorders. Current studies using the invertebrate animal models Caenorhabditis elegans and Drosophila melanogaster are uncovering cellular functions and mechanisms associated with mutant forms of the well-conserved gene products corresponding to DYT1, DYT5a, DYT5b, and DYT12 dystonias. Here we review recent findings from the invertebrate literature pertaining to molecular mechanisms of these gene products, torsinA, GTP cyclohydrolase I, tyrosine hydroxylase, and the alpha subunit of Na+/K ATPase, respectively. In each study, the application of powerful genetic tools developed over decades of intensive work with both of these invertebrate systems has led to mechanistic insights into these human disorders. These models are particularly amenable to large-scale genetic screens for modifiers or additional alleles, which are bolstering our understanding of the molecular functions associated with these gene products. Moreover, the use of invertebrate models for the evaluation of DYT genetic loci and their genetic interaction networks has predictive value and can provide a path forward for therapeutic intervention." @default.
- W2135184488 created "2016-06-24" @default.
- W2135184488 creator A5017177287 @default.
- W2135184488 creator A5033267154 @default.
- W2135184488 creator A5063585422 @default.
- W2135184488 creator A5077741890 @default.
- W2135184488 creator A5078892145 @default.
- W2135184488 date "2013-01-01" @default.
- W2135184488 modified "2023-09-26" @default.
- W2135184488 title "Invertebrate Models of Dystonia" @default.
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