Abstract
Repeat expansion disorders are a group of inherited neuromuscular diseases, which are caused by expansion mutations of repeat sequences in the disease-causing genes. Repeat expansion disorders include a class of diseases caused by repeat expansions in the coding region of the genes, producing mutant proteins with amino acid repeats, mostly the polyglutamine (polyQ) diseases, and another class of diseases caused by repeat expansions in the noncoding regions, producing aberrant RNA with expanded repeats, which are called noncoding repeat expansion diseases. A variety of Drosophila disease models have been established for both types of diseases, and they have made significant contributions toward elucidating the molecular mechanisms of and developing therapies for these neuromuscular diseases.
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Acknowledgments
We thank Dr. H. Akiko Popiel for excellent editing of the manuscript and lab members for their helpful discussions. This work was supported in part by Grant-in-Aid for Scientific Research on Innovative Areas (Brain Protein Aging and Dementia Control) (17H05699 to Y.N.) and Strategic Research Program for Brain Sciences (Integrated research on neuropsychiatric disorders) (11013026 to Y.N.) from the Ministry of Education, Culture, Sports, Science, and Technology, Japan; by Grants-in-Aid for Scientific Research (B) (16H05325 to Y.N.), Challenging Exploratory Research (24659438 to Y.N.), Scientific Research (C) (15K09331 to M.U.), and Young Scientists (B) (25860733 to M.U.) from the Japan Society for the Promotion of Science, Japan; by Health Labour Sciences Research Grant for Research on Development of New Drugs (H24-Soyakusogo-Ippan-002 to Y.N.) from the Ministry of Health, Labour and Welfare, Japan; by grants for Practical Research Projects for Rare/Intractable Diseases (15Aek0109018h0002, 17ek0109222h0001, 18ek0109316h0001 to Y.N.) and Strategic Research Program for Brain Sciences (Integrative Research on Depression, Dementia and Development disorders) (16dm0107061h0001 to Y.N.) from Japan Agency for Medical Research and Development, Japan; by Intramural Research Grants for Neurological and Psychiatric Disorders (27-7, 27-9, 30-9 to Y.N.) from the National Center of Neurology and Psychiatry; by an IBC Grant to Y.N. from the Japan Amyotrophic Lateral Sclerosis Association; and by a grant from the Takeda Science Foundation (to M.U.).
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Ueyama, M., Nagai, Y. (2018). Repeat Expansion Disease Models. In: Yamaguchi, M. (eds) Drosophila Models for Human Diseases. Advances in Experimental Medicine and Biology, vol 1076. Springer, Singapore. https://doi.org/10.1007/978-981-13-0529-0_5
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