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
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
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
Assessing average somatic CAG repeat instability at the protein level
Sign Up to like & getrecommendations! Published in 2019 at "Scientific Reports"
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
Antisense transcription of the myotonic dystrophy locus yields low-abundant RNAs with and without (CAG)n repeat
Sign Up to like & getrecommendations! Published in 2017 at "RNA Biology"
DOI: 10.1080/15476286.2017.1279787
Abstract: ABSTRACT The unstable (CTG·CAG)n trinucleotide repeat in the myotonic dystrophy type 1 (DM1) locus is bidirectionally transcribed from genes with terminal overlap. By transcription in the sense direction, the DMPK gene produces various alternatively spliced… read more here.
Keywords: rnas without; transcription; cag repeat; repeat ... See more keywords
Polymorphisms of androgens-related genes and idiopathic male infertility in Turkish men.
Sign Up to like & getrecommendations! Published in 2021 at "Andrologia"
DOI: 10.1111/and.14270
Abstract: Androgens, testosterone and dihydrotestosterone (DHT) are endocrine regulators of spermatogenesis and act via androgen receptor (AR). The aim of this study was to investigate the association(s) of AR (CAG repeat length), SRD5A2 (rs523349, V89L) and… read more here.
Keywords: cag repeat; turkish men; idiopathic male; male infertility ... See more keywords
Androgen receptor CAG repeat polymorphism is not associated with insulin resistance and diabetes among South Asian males
Sign Up to like & getrecommendations! Published in 2017 at "BMC Research Notes"
DOI: 10.1186/s13104-017-3035-5
Abstract: ObjectiveTo study relationship between androgen receptor (AR) CAG repeat polymorphism, insulin resistance (IR), β-cell function and other clinical/biochemical parameters in ethnic South Asian adults. A case (males with diabetes), control (males without diabetes) study, was… read more here.
Keywords: insulin; cag; cag repeat; blood ... See more keywords
The RNA export and RNA decay complexes THO and TRAMP prevent transcription-replication conflicts, DNA breaks, and CAG repeat contractions
Sign Up to like & getrecommendations! Published in 2022 at "PLOS Biology"
DOI: 10.1371/journal.pbio.3001940
Abstract: Expansion of structure-forming CAG/CTG repetitive sequences is the cause of several neurodegenerative disorders and deletion of repeats is a potential therapeutic strategy. Transcription-associated mechanisms are known to cause CAG repeat instability. In this study, we… read more here.
Keywords: cag repeat; rna export; repeat; cag ... See more keywords