Age‐Related Cognitive Changes as a Function of CAG Repeat in Child and Adolescent Carriers of Mutant Huntingtin
Sign Up to like & getrecommendations! Published in 2021 at "Annals of Neurology"
DOI: 10.1002/ana.26039
Abstract: Limited data exists regarding the disease course of Huntington's Disease (HD) in children and young adults. Here, we evaluate the trajectory of various cognitive skill development as a function of cytosine‐adenine‐guanine (CAG) repeat length in… read more here.
Keywords: age related; cag repeat; repeat; related cognitive ... See more keywords
A Population‐Wide Exploration of the THAP11 CAG Repeat Size and Structure in the 100,000 Genomes Project and UK Biobank
Sign Up to like & getrecommendations! Published in 2024 at "Movement Disorders"
DOI: 10.1002/mds.30073
Abstract: A CAG repeat expansion in THAP11 was recently found to be associated with spinocerebellar ataxia in two Chinese families. Expanded repeats ranged from 45 to 100 units, with CAA sequence interruptions in the 5′ region and… read more here.
Keywords: cag repeat; thap11; population wide; cag ... See more keywords
The metabolic and endocrine characteristics in spinal and bulbar muscular atrophy
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Neurology"
DOI: 10.1007/s00415-018-8790-2
Abstract: ObjectiveSpinal and bulbar muscular atrophy (SBMA) is caused by an abnormal expansion of the CAG repeat in the androgen receptor gene. This study aimed to systematically phenotype a German SBMA cohort (n = 80) based on laboratory… read more here.
Keywords: cag; cag repeat; duration; muscular atrophy ... See more keywords
FAN1 controls mismatch repair complex assembly via MLH1 retention to stabilize CAG repeat expansion in Huntington’s disease
Sign Up to like & getrecommendations! Published in 2021 at "Cell Reports"
DOI: 10.1016/j.celrep.2021.109649
Abstract: Summary CAG repeat expansion in the HTT gene drives Huntington’s disease (HD) pathogenesis and is modulated by DNA damage repair pathways. In this context, the interaction between FAN1, a DNA-structure-specific nuclease, and MLH1, member of… read more here.
Keywords: expansion; fan1; cag repeat; repeat expansion ... See more keywords
Deregulated Splicing Is a Major Mechanism of RNA-Induced Toxicity in Huntington's Disease.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of molecular biology"
DOI: 10.1016/j.jmb.2019.01.034
Abstract: Huntington's disease (HD) is caused by an expanded CAG repeat in the huntingtin (HTT) gene, translating into an elongated polyglutamine stretch. In addition to the neurotoxic mutant HTT protein, the mutant CAG repeat RNA can… read more here.
Keywords: mutant htt; huntington disease; cag repeat; rna ... See more keywords
Non-ataxic manifestations of Spinocerebellar ataxia-2, their determinants and predictors
Sign Up to like & getrecommendations! Published in 2018 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2018.08.024
Abstract: INTRODUCTION To evaluate the non-ataxic clinical manifestations in genetically proven Spinocerebellar ataxia 2 (SCA2) and identify their determinants and predictors. METHODS Seventy-three subjects with genetically proven SCA2 were evaluated clinically for the common non-ataxic manifestations.… read more here.
Keywords: determinants predictors; cag repeat; repeat length; non ataxic ... See more keywords
Repurposing Oseltamivir Against CAG Repeat Mediated Toxicity in Huntington’s Disease and Spinocerebellar Ataxia Using Cellular and Drosophila Model
Sign Up to like & getrecommendations! Published in 2025 at "ACS Omega"
DOI: 10.1021/acsomega.4c10338
Abstract: Huntington’s disease (HD) and Spinocerebellar Ataxia (SCA) are debilitating neurological disorders triggered by the expansion of CAG sequences within the specific genes (HTT and ATXN, respectively). These are characterized as poly glutamine (polyQ) disorders, which… read more here.
Keywords: disease; cag repeat; drosophila model; cag ... See more keywords
Small CAG Repeat RNA Forms a Duplex Structure with Sticky Ends That Promote RNA Condensation.
Sign Up to like & getrecommendations! Published in 2025 at "Journal of the American Chemical Society"
DOI: 10.1021/jacs.4c16886
Abstract: Biomolecular condensation lays the foundation of forming biologically important membraneless organelles, but abnormal condensation processes are often associated with human diseases. Ribonucleic acid (RNA) plays a critical role in the formation of biomolecular condensates by… read more here.
Keywords: small cag; sticky ends; condensation; cag repeat ... See more keywords
Huntingtin CAG repeat size variations below the Huntington’s disease threshold: associations with depression, anxiety and basal ganglia structure
Sign Up to like & getrecommendations! Published in 2024 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-024-01737-1
Abstract: Huntington’s disease (HD) is strongly associated with psychiatric symptoms, yet, associations between huntingtin gene (HTT) CAG repeat size variations and psychiatric phenotypes outside the HD complex are still under-investigated. In this genetic case-control study we… read more here.
Keywords: repeat; ganglia structure; cag repeat; huntington disease ... See more keywords
Splice modulators target PMS1 to reduce somatic expansion of the Huntington’s disease-associated CAG repeat
Sign Up to like & getrecommendations! Published in 2024 at "Nature Communications"
DOI: 10.1038/s41467-024-47485-0
Abstract: Huntington’s disease (HD) is a dominant neurological disorder caused by an expanded HTT exon 1 CAG repeat that lengthens huntingtin’s polyglutamine tract. Lowering mutant huntingtin has been proposed for treating HD, but genetic modifiers implicate… read more here.
Keywords: repeat; splice modulators; cag repeat; huntington disease ... See more keywords
A selective inhibitor of histone deacetylase 3 prevents cognitive deficits and suppresses striatal CAG repeat expansions in Huntington’s disease mice
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-05125-2
Abstract: Huntington’s disease (HD) is a neurodegenerative disorder whose major symptoms include progressive motor and cognitive dysfunction. Cognitive decline is a critical quality of life concern for HD patients and families. The enzyme histone deacetylase 3… read more here.
Keywords: repeat expansions; striatal cag; cag repeat; disease ... See more keywords