| Chapter title |
The Disease Protein Huntingtin and Neuronal Protein Aggregations in Huntington’s Disease (HD)
|
|---|---|
| Chapter number | 9 |
| Book title |
The Neuropathology of Huntington’s Disease: Classical Findings, Recent Developments and Correlation to Functional Neuroanatomy
|
| Published in |
Advances in anatomy embryology and cell biology, January 2015
|
| DOI | 10.1007/978-3-319-19285-7_9 |
| Pubmed ID | |
| Book ISBNs |
978-3-31-919284-0, 978-3-31-919285-7
|
| Authors |
Udo Rüb, Jean Paul G. Vonsattel, Helmut Heinsen, Horst-Werner Korf |
| Abstract |
Identified in 1993 and located on chromosome 4p16.3, the human HD gene (also called IT15) contains 67 exons and spans more than 200 kb. It harbors meiotically unstable CAG trinucleotide or polyglutamine repeats (cytosine, adenine, guanine) in its exon 1, which encode the very large 350 kDa huntingtin protein (Htt). Htt consists of about 3100 amino acids and undergoes extensive posttranslational modifications (Fig. 9.1) (Andrew et al. 1993; Atkin and Paulson 2014; Borrell-Pagès et al. 2006; Brundin et al. 2010; Cattaneo et al. 2005; Davies et al. 2007; Duyao et al. 1993; Finkbeiner and Mitra 2008; Imarisio et al. 2008; Labbadia and Morimoto 2013; Li and Conforti 2013; Li and Li 2011; Margolis and Ross 2003; Myers et al. 1993; Ortega et al. 2007; Paul 2008; Renner and Melki 2014; Schulte and Littleton 2011; The Huntington's disease Collaborative Research Group 1993; Vonsattel 2008; Walker 2007a, b). |
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