Title : Expansion, mosaicism and interruption: mechanisms of the CAG repeat mutation in spinocerebellar ataxia type 1.

Pub. Date : 2016

PMID : 27895927






7 Functional Relationships(s)
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1 The genetic mutation is an expansion of CAG trinucleotide repeats within the coding region of the ataxin-1 gene, characterizing SCA1 as a polyglutamine expansion disease like Huntington"s. polyglutamine ataxin 1 Homo sapiens
2 The genetic mutation is an expansion of CAG trinucleotide repeats within the coding region of the ataxin-1 gene, characterizing SCA1 as a polyglutamine expansion disease like Huntington"s. polyglutamine ataxin 1 Homo sapiens
3 As with most polyglutamine expansion diseases, SCA1 follows the rules of genetic anticipation: the larger the expansion, the earlier and more rapid the symptoms. polyglutamine ataxin 1 Homo sapiens
4 Unlike the majority of polyglutamine expansion diseases, the presence of histidine interruptions within the polyglutamine tract of ataxin-1 protein can prevent or mitigate disease. polyglutamine ataxin 1 Homo sapiens
5 Unlike the majority of polyglutamine expansion diseases, the presence of histidine interruptions within the polyglutamine tract of ataxin-1 protein can prevent or mitigate disease. polyglutamine ataxin 1 Homo sapiens
6 The present review aims to synthesize three decades of research on the ataxin-1 polyglutamine expansion mutation that causes SCA1. polyglutamine ataxin 1 Homo sapiens
7 The present review aims to synthesize three decades of research on the ataxin-1 polyglutamine expansion mutation that causes SCA1. polyglutamine ataxin 1 Homo sapiens