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Stability of the CAG Tract in the ATXN2 Gene Depends on the Localization of CAA Interruptions

24 Jul 2024

Abstract excerpt

It is known that the presence of CAA codons in the CAG tract affects the nature and time of disease onset caused by the expansion of trinucleotide repeats. The mechanisms leading to the occurrence of these diseases should be sought not only at the level of the physiological role of the ATXN2 protein, but also at the DNA level. These mechanisms are associated with non-canonical configurations (hairpins) that can...

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PMID: 39200113
DOI: 10.3390/biomedicines12081648

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