Results 71 to 80 of about 26,354 (249)
Selenium (Se) is a crucial element in selenoproteins, key biomolecules for physiological function in vivo. Central nervous system can express all 25 kinds of selenoproteins, which protect neurons by reducing oxidative stress and inflammatory response. Neuroprotection is being investigated through the biological study of Se.
Guanning Huang+4 more
wiley +1 more source
RTEL1 Inhibits Trinucleotide Repeat Expansions and Fragility [PDF]
Human RTEL1 is an essential, multifunctional helicase that maintains telomeres, regulates homologous recombination, and helps prevent bone marrow failure. Here, we show that RTEL1 also blocks trinucleotide repeat expansions, the causal mutation for 17 neurological diseases.
Frizzell, Aisling+6 more
openaire +5 more sources
The differential diagnosis of chorea [PDF]
Chorea is a hyperkinetic movement disorder characterised by excessive spontaneous movements that are irregularly timed, randomly distributed and abrupt. In this article, the authors discuss the causes of chorea, particularly Huntington's disease and the ...
Tabrizi, SJ, Wild, EJ
core +1 more source
An investigation into the transcription factors and regulatory mechanisms of Aspergillus
Foodborne pathogen Aspergillus, a prevalent etiologic agent among filamentous fungi, are distinguished by a significant repertoire of transcription factors encoded within their genomes. These regulatory proteins are instrumental in orchestrating key biological processes, including cellular growth, secondary metabolite biosynthesis, mycotoxin production,
Yuxin Qin, Huawei Yu, Jun Tian
wiley +1 more source
Abstract Genetic factors play a central role in neurodegenerative disorders. Over the past few decades, significant progress has been made in identifying the causative genes of numerous monogenic disorders, largely due to the widespread adoption of next‐generation sequencing (NGS) technologies in both research and clinical settings.
Guillaume Cogan+4 more
wiley +1 more source
Context Dependence of Trinucleotide Repeat Structures [PDF]
Long repeated sequences of DNA and their associated secondary structure govern the development and severity of a significant class of neurological diseases. Utilizing the effect of base stacking on fluorescence quantum yield, 2-aminopurine substitutions for adenine previously demonstrated sequestered bases in the stem and exposed bases in the loop for ...
Courtney A. Barber+3 more
openaire +3 more sources
Long tract of untranslated CAG repeats is deleterious in transgenic mice. [PDF]
The most frequent trinucleotide repeat found in human disorders is the CAG sequence. Expansion of CAG repeats is mostly found in coding regions and is thought to cause diseases through a protein mechanism.
Ren-Jun Hsu+6 more
doaj +1 more source
Fragile X Syndrome (FXS) is a genetic disease due to a CGG trinucleotide expansion, named full mutation (greater than 200 CGG repeats), in the fragile X mental retardation 1 gene locus Xq27.3; which leads to an hypermethylated region in the gene promoter
Ayala-Zapata, Sebastián+5 more
core +1 more source
Development of Sequence Tagged Microsatellite Site (STMS) markers in Azalea [PDF]
A genomic library was constructed from DNA of two azalea genotypes: a Belgian pot azalea R. simsii hybrid Mevr. Van Belle and a Chinese R. simsii from Daoxian.
Arens, P.+5 more
core +2 more sources
Oxidative stress parameters in plasma of Huntington's disease patients, asymptomatic Huntington's disease gene carriers and healthy subjects : a cross-sectional study [PDF]
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