All three MutL complexes are required for repeat expansion in a human stem cell model of CAG-repeat expansion mediated glutaminase deficiency

• Published in: Scientific reports Vol. 14; no. 1; pp. 13772 - 10
• Main Authors: Hayward, Bruce, Kumari, Daman, Santra, Saikat, van Karnebeek, Clara D. M., van Kuilenburg, André B. P., Usdin, Karen
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 14.06.2024; Nature Publishing Group; Nature Portfolio
• Subjects: 5' Untranslated Regions; 631/208/211/2120; 631/337; 631/45/147; 631/45/173; Ataxia; Cell culture; Child development; Cooperation; CRISPR; CRISPR-Cas Systems; Disease; Endocrinology; GDPAG; GLSD; Glutaminase; Glutaminase - genetics; Glutaminase - metabolism; Glutaminase deficiency disorder; Humanities and Social Sciences; Humans; Induced Pluripotent Stem Cells - metabolism; Metabolic disorders; Microsatellite instability; Mismatch repair; Mismatch repair (MMR); multidisciplinary; MutL Proteins - genetics; MutL Proteins - metabolism; Plasmids; Pluripotency; Polyglutamine; R-loops; Repeat expansion disease; Science; Science (multidisciplinary); Stem cells; Trinucleotide Repeat Expansion - genetics; Trinucleotide repeats; Yeast; Mismatch repair (MMR); Repeat expansion disease; GDPAG; Microsatellite instability; Glutaminase deficiency disorder; GLSD

The Repeat Expansion Diseases (REDs) arise from the expansion of a disease-specific short tandem repeat (STR). Different REDs differ with respect to the repeat involved, the cells that are most expansion prone and the extent of expansion. Furthermore, whether these diseases share a common expansion...