IndraLab

Statements

ATXN3 activates mutated ATXN3. 3 / 3
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"We then proceeded to assess mutant ataxin-3 detection in crude brain homogenates of 6 months old wildtype and SCA3 transgenic mice overexpressing human mutant ataxin-3."
23626768
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"MJD is caused by the expansion of an unstable CAG tract in exon 10 of the ATXN3 gene encoding for ataxin-3 (ATXN3) and is responsible for C-terminal expanded polyglutamine (polyQ) stretch in mutant ATXN3 (mATXN3)."
37830611
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"In SCA3, ATXN3 can be SUMOylated at site K166 by SUMO-1, which would enhance mutant ATXN3 stability without affecting aggregate formation."
30283301