Results 61 to 70 of about 19,593 (221)
A Variable Polyglutamine Repeat Affects Subcellular Localization and Regulatory Activity of a Populus ANGUSTIFOLIA Protein. [PDF]
, 2018 Polyglutamine (polyQ) stretches have been reported to occur in proteins across many organisms including animals, fungi and plants. Expansion of these repeats has attracted much attention due their associations with numerous human diseases including ...
Barry, Kerrie +12 more
core +1 more source
Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1 [PDF]
, 2000 The genetic basis of myotonic dystrophy type 1 (DM1) is the expansion of a CTG repeat in the 3' untranslated region of DM1PK . Once into the disease range, the repeat becomes highly unstable and is biased toward expansion in both somatic and germline ...
Baiget, M. +3 more
core +1 more source
Expansion of GAA trinucleotide repeats in mammals
Genomics, 2006 We have previously shown that GAA trinucleotide repeats have undergone significant expansion in the human genome. Here we present the analysis of the length distribution of all 10 nonredundant trinucleotide repeat motifs in 20 complete eukaryotic genomes (6 mammalian, 2 nonmammalian vertebrates, 4 arthropods, 4 fungi, and 1 each of nematode, amoebozoa,
Clark, Rhonda M. +4 more
openaire +2 more sources
BMC Neurology, 2021 Background Recent advances in therapeutic options may prevent deterioration related to Huntington’s disease (HD), even at the pre-symptomatic stage. Be that as it may, a well-characterized patient population is essential for screening and monitoring ...
Katalin Despotov +10 more
doaj +1 more source
ATXN2-CAG42 sequesters PABPC1 into insolubility and induces FBXW8 in cerebellum of old ataxic knock-in mice [PDF]
, 2012 Spinocerebellar Ataxia Type 2 (SCA2) is caused by expansion of a polyglutamine encoding triplet repeat in the human ATXN2 gene beyond (CAG)31. This is thought to mediate toxic gain-of-function by protein aggregation and to affect RNA processing ...
Auburger, Georg +8 more
core +3 more sources
CTG repeat-targeting oligonucleotides for down-regulating Huntingtin expression [PDF]
, 2017 Huntington's disease (HD) is a fatal, neurodegenerative disorder in which patients suffer from mobility, psychological and cognitive impairments. Existing therapeutics are only symptomatic and do not significantly alter the disease progression or ...
Ekwall, Karl +10 more
core +1 more source
Histone Deacetylase Complexes Promote Trinucleotide Repeat Expansions
PLoS Biology, 2012 Expansions of DNA trinucleotide repeats cause at least 17 inherited neurodegenerative diseases, such as Huntington's disease. Expansions can occur at frequencies approaching 100% in affected families and in transgenic mice, suggesting that specific cellular proteins actively promote (favor) expansions.
Kim Debacker +5 more
openaire +4 more sources
Epigenetics and triplet-repeat neurological diseases [PDF]
, 2015 The term ‘junk DNA’ has been reconsidered following the delineation of the functional significance of repetitive DNA regions. Typically associated with centromeres and telomeres, DNA repeats are found in nearly all organisms throughout their genomes ...
Festenstein, RJ, Nageshwaran, S
core +2 more sources
The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model [PDF]
, 2012 Copyright @ 2012 Elsevier. The article can be accessed from the link below.This article has been made available through the Brunel Open Access Publishing Fund.Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by a ...
Al-Mahdawi, S +6 more
core +1 more source
Advanced Science, EarlyView.This study uncovers a new allosteric site in the Josephin domain of ataxin‐3 targeted by the molecular tweezer CLR01, which modulates protein aggregation, improves synaptic function in neuronal cells, and delays motor dysfunction in animal models.
Alexandra Silva +28 more
wiley +1 more source