Huntington's disease: Calcium dyshomeostasis and pathology models

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Abstract

Huntington's disease (HD) is a severe inherited neurodegenerative disorder characterized by motor dysfunction, cognitive decline, and mental impairment. At the molecular level, HD is caused by a mutation in the first exon of the gene encoding the huntingtin protein. The mutation results in an expanded polyglutamine tract at the N-terminus of the huntingtin protein, causing the neurodegenerative pathology. Calcium dyshomeostasis is believed to be one of the main causes of the disease, which underlies the great interest in the problem among experts in molecular physiology. Recent studies have focused on the development of animal and insect HD models, as well as patient-specific induced pluripotent stem cells (HD-iPSCs), to simulate the disease's progression. Despite a sesquicentennial history of HD studies, the issues of diagnosis and manifestation of the disease have remained topical. The present review addresses these issues.

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Kolobkova, Y. A., Vigont, V. A., Shalygin, A. V., & Kaznacheyeva, E. V. (2017). Huntington’s disease: Calcium dyshomeostasis and pathology models. Acta Naturae. Russian Federation Agency for Science and Innovation. https://doi.org/10.32607/20758251-2017-9-2-34-46

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