[HTML][HTML] CAG repeats containing CAA interruptions form branched hairpin structures in spinocerebellar ataxia type 2 transcripts
K Sobczak, WJ Krzyzosiak - Journal of Biological Chemistry, 2005 - ASBMB
Spinocerebellar ataxia type 2 (SCA2), one of the hereditary human neurodegenerative
disorders, is caused by the expansion of the CAG tandem repeats in the translated
sequence of the SCA2 gene. In a normal population the CAG repeat is polymorphic not only
in length but also in the number and localization of its CAA interruptions. The aim of this
study was to determine the structure of the repeat region in the normal and mutant SCA2
transcripts and to reveal the structural basis of its normal function and dysfunction. We show …
disorders, is caused by the expansion of the CAG tandem repeats in the translated
sequence of the SCA2 gene. In a normal population the CAG repeat is polymorphic not only
in length but also in the number and localization of its CAA interruptions. The aim of this
study was to determine the structure of the repeat region in the normal and mutant SCA2
transcripts and to reveal the structural basis of its normal function and dysfunction. We show …