Oxidative stress parameters in plasma of Huntington's disease patients, asymptomatic Huntington's disease gene carriers and healthy subjects : a cross-sectional study [PDF]
, 2007 BACKGROUND : Animal data and postmortem studies suggest a role of oxidative stress in the Huntington's disease (HD), but in vivo human studies have been scarce.
Babić, Tomislav +5 more
core +1 more source
Slipped-CAG DNA binding small molecule induces trinucleotide repeat contractions in vivo
Nature Genetics, 2020 In many repeat diseases, such as Huntington’s disease (HD), ongoing repeat expansions in affected tissues contribute to disease onset, progression and severity.
M. Nakamori +31 more
semanticscholar +1 more source
Cell Reports, 2015 Fragile X syndrome (FXS) is the most common form of inherited intellectual disability, resulting from a CGG repeat expansion in the fragile X mental retardation 1 (FMR1) gene.
Chul-Yong Park +7 more
doaj +1 more source
Oromandibular Dyskinesia as the Initial Manifestation of Late-Onset Huntington Disease [PDF]
Journal of Movement Disorders, 2011 Huntington’s disease (HD) is a neurodegenerative disorder characterized by a triad of choreoathetosis, dementia and dominant inheritance. The cause of HD is an expansion of CAG trinucleotide repeats in the HD gene.
Dong-Seok Oh +5 more
doaj +1 more source
Бюллетень сибирской медицины, 2021 Huntington’s disease (HD) is an autosomal dominant progressive neurodegenerative disease. Its molecular cause is a cytosine-adenine-guanine (CAG) trinucleotide repeat dynamic expansion in the huntingtin (HTT) gene.
M. A. Nikitina +7 more
doaj +1 more source
Sequence analysis of the cis-regulatory regions of the bithorax complex of Drosophila [PDF]
, 1995 The bithorax complex (BX-C) of Drosophila, one of two complexes that act as master regulators of the body plan of the fly, has now been entirely sequenced and comprises approximate to 315,000 bp, only 1.4% of which codes for protein.
Celniker, Susan E. +3 more
core +1 more source
MutSβ and histone deacetylase complexes promote expansions of trinucleotide repeats in human cells
Nucleic Acids Research, 2012 Trinucleotide repeat (TNR) expansions cause at least 17 heritable neurological diseases, including Huntington’s disease. Expansions are thought to arise from abnormal processing of TNR DNA by specific trans-acting proteins.
A. Gannon +3 more
semanticscholar +1 more source
New functions of Ctf18-RFC in preserving genome stability outside its role in sister chromatid cohesion. [PDF]
PLoS Genetics, 2011 Expansion of DNA trinucleotide repeats causes at least 15 hereditary neurological diseases, and these repeats also undergo contraction and fragility. Current models to explain this genetic instability invoke erroneous DNA repair or aberrant replication ...
Lionel Gellon +6 more
doaj +1 more source
The ubiquitin-proteasome pathway in Huntington's disease. [PDF]
, 2008 The accumulation of mutant protein is a common feature of neurodegenerative disease. In Huntington's disease, a polyglutamine expansion in the huntingtin protein triggers neuronal toxicity.
Finkbeiner, Steven, Mitra, Siddhartha
core +2 more sources
Instability of (CTG)n•(CAG)n trinucleotide repeats and DNA synthesis
Cell & Bioscience, 2012 Expansion of (CTG)n•(CAG)n trinucleotide repeat (TNR) microsatellite sequences is the cause of more than a dozen human neurodegenerative diseases. (CTG)n and (CAG)n repeats form imperfectly base paired hairpins that tend to expand in vivo in a length ...
Guoqi Liu, M. Leffak
semanticscholar +1 more source