Assessing average somatic CAG repeat instability at the protein level
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DOI: 10.1038/s41598-019-55202-x
Abstract: Sandwich ELISA-based methods use Abs that target the expanded polyglutamine (polyQ) tract to quantify mutant huntingtin (mHTT). Using Meso Scale Discovery (MSD) assay, the mHTT signal detected with MW1 Ab correlated with polyQ length and… read more here.
Keywords: length; cag repeat; repeat instability; protein level ... See more keywords
Overview of the Complex Relationship between Epigenetics Markers, CTG Repeat Instability and Symptoms in Myotonic Dystrophy Type 1
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DOI: 10.3390/ijms23073477
Abstract: Among the trinucleotide repeat disorders, myotonic dystrophy type 1 (DM1) is one of the most complex neuromuscular diseases caused by an unstable CTG repeat expansion in the DMPK gene. DM1 patients exhibit high variability in… read more here.
Keywords: dystrophy type; repeat; ctg repeat; repeat instability ... See more keywords