Short CAG repeat variation as a regulatory factor in health and disease [PDF]
Frontiers in GeneticsShort cytosine-adenine-guanine (CAG) trinucleotide repeats, which encode polyglutamine (polyQ) tracts, are prevalent features of genes enriched in transcriptional and regulatory functions, including the androgen receptor (AR) and huntingtin (HTT).
Jacob R. Manjarrez
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Intersecting impact of CAG repeat and huntingtin knockout in stem cell-derived cortical neurons [PDF]
Neurobiology of DiseaseHuntington's Disease (HD) is caused by a CAG repeat expansion in the gene encoding huntingtin (HTT). While normal HTT function appears impacted by the mutation, the specific pathways unique to CAG repeat expansion versus loss of normal function are ...
Jennifer T. Stocksdale +30 more
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Ascertainment of uninterrupted CAG repeat length and disease-modifying variants in fragment-based genetic testing for Huntington Disease [PDF]
Genetics in Medicine Open: Purpose: In Huntington disease (HD), synonymous variants causing loss or duplication of the interrupting CAA codon in the HTT CAG repeat modify disease onset.
Hailey Findlay Black +10 more
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Huntingtin HTT1a is generated in a CAG repeat-length-dependent manner in human tissues [PDF]
Molecular MedicineBackground The disease-causing mutation in Huntington disease (HD) is a CAG trinucleotide expansion in the huntingtin (HTT) gene. The mutated CAG tract results in the production of a small RNA, HTT1a, coding for only exon 1 of HTT.
Franziska Hoschek +8 more
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Splice modulators target PMS1 to reduce somatic expansion of the Huntington’s disease-associated CAG repeat [PDF]
Nature CommunicationsHuntington’s disease (HD) is a dominant neurological disorder caused by an expanded HTT exon 1 CAG repeat that lengthens huntingtin’s polyglutamine tract.
Zachariah L. McLean +18 more
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Long CAG repeat sequence and protein expression of androgen receptor considered as prognostic indicators in male breast carcinoma. [PDF]
PLoS ONE, 2012 BACKGROUND: The androgen receptor (AR) expression and the CAG repeat length within the AR gene appear to be involved in the carcinogenesis of male breast carcinoma (MBC).
Yan-Ni Song +11 more
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Biomedicines, 2022 Huntington’s Disease (HD) is an autosomal dominant disease that results in severe neurodegeneration with no cure. HD is caused by the expanded CAG trinucleotide repeat (TNR) on the Huntingtin gene (HTT). Although the somatic and germline expansion of the
In K. Cho +3 more
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Positive Correlation between Androgen Receptor CAG Repeat Length and Metabolic Syndrome in a Korean Male Population [PDF]
The World Journal of Men's Health, 2018 Purpose: In epidemiological studies, there are various associations of androgen receptor (AR) CAG with several diseases or phenotypes. However, the relationship between CAG repeat length and metabolic syndrome (MS) remains unclear, especially in Asian ...
Jong Wook Kim +5 more
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In Vitro Expansion of CAG, CAA, and Mixed CAG/CAA Repeats [PDF]
International Journal of Molecular Sciences, 2015 Polyglutamine diseases, including Huntington’s disease and a number of spinocerebellar ataxias, are caused by expanded CAG repeats that are located in translated sequences of individual, functionally-unrelated genes. Only mutant proteins containing polyglutamine expansions have long been thought to be pathogenic, but recent evidence has implicated ...
Grzegorz Figura +2 more
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Distinct mismatch-repair complex genes set neuronal CAG-repeat expansion rate to drive selective pathogenesis in HD mice [PDF]
CellX William Yang +2 more
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