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Huntington Disease as a Neurodevelopmental Disorder and Early Signs of the Disease in Stem Cells

期刊

MOLECULAR NEUROBIOLOGY
卷 55, 期 4, 页码 3351-3371

出版社

HUMANA PRESS INC
DOI: 10.1007/s12035-017-0477-7

关键词

Stem cells; Polyglutamine diseases; ESC; iPS; iPSC; NSC; Neurodegenerative disease; Neurodevelopmental disease; polyQ disease; Huntington disease

资金

  1. National Science Centre [2013/10/E/NZ4/00621]
  2. Polish Ministry of Science and Higher Education, under the KNOW program [01/KNOW2/2014]
  3. Polish Ministry of Science and Higher Education

向作者/读者索取更多资源

Huntington disease (HD) is a dominantly inherited disorder caused by a CAG expansion mutation in the huntingtin (HTT) gene, which results in the HTT protein that contains an expanded polyglutamine tract. The adult form of HD exhibits a late onset of the fully symptomatic phase. However, there is also a long presymptomatic phase, which has been increasingly investigated and recognized as important for the disease development. Moreover, the juvenile form of HD, evoked by a higher number of CAG repeats, resembles a neurodevelopmental disorder and has recently been the focus of additional interest. Multiple lines of data, such as the developmental necessity of HTT, its role in the cell cycle and neurogenesis, and findings from pluripotent stem cells, suggest the existence of a neurodevelopmental component in HD pathogenesis. Therefore, we discuss the early molecular pathogenesis of HD in pluripotent and neural stem cells, with respect to the neurodevelopmental aspects of HD.

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