Results 81 to 90 of about 19,593 (221)

m1A‐Dependent TRMT6/61A‐ARG2 Axis Drives Protumorigenic Senescence by Remodeling the Tumor Microenvironment

Advanced Science, EarlyView.
Uncovering a new layer of translational control, this study reveals how TRMT6/TRMT61A‐mediated tRNA‐m1A methylation drives pro‐tumorigenic senescence in colorectal cancer. By selectively enhancing ARG2 translation, this epitranscriptomic axis triggers an NF‐κB‐dependent SASP.
Tuoyang Li, Mingzhe Huang, Jinlin Cai, Xuan Li, Yaokang Xing, Rongzhao He, Zixiao Wan, Yingguo Gan, Ziming Li, Jingrong Weng, Yumo Xie, Yuanhui Wu, Xiaoxia Liu, Xiaolin Wang, Yanxin Luo, Meijin Huang, Jinxin Lin, Huichuan Yu   +17 more
wiley   +1 more source

Tandem repeat disorders: from diagnosis to emerging therapeutic strategies [PDF]

Encephalitis
Tandem repeat disorders (TRDs) are genetic conditions characterized by the abnormal expansion of repetitive DNA sequences within specific genes. The growing number of identified TRDs highlights their complexity, with varied molecular mechanisms ranging ...
Jangsup Moon
doaj   +1 more source

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, Hećimović, Silva, Klepac, Nataša, Klepac, Ratimir, Relja, Maja, Trkulja, Vladimir   +5 more
core   +1 more source

Mini‐Hairpin DNA: Extraordinarily Stable Structure and Its Applications

Chemistry – A European Journal, EarlyView.
Mini‐hairpin DNA fragments containing GCGAAGC and GCGAAAGC form exceptionally stable hairpin‐like structures, with only two G−C pairs and one sheared G−A pair, remaining undenatured in 7 M urea and resisting nuclease digestion. These mini‐hairpin sequences frequently appear in replication and transcription origins, influence DNA sequencing fidelity ...
Michiko Kimoto, Ichiro Hirao
wiley   +1 more source

Triplet repeat-derived siRNAs enhance RNA-mediated toxicity in a Drosophila model for myotonic dystrophy. [PDF]

PLoS Genetics, 2011
More than 20 human neurological and neurodegenerative diseases are caused by simple DNA repeat expansions; among these, non-coding CTG repeat expansions are the basis of myotonic dystrophy (DM1).
Zhenming Yu, Xiuyin Teng, Nancy M Bonini
doaj   +1 more source

Base excision repair of oxidative DNA damage coupled with removal of a CAG repeat hairpin attenuates trinucleotide repeat expansion [PDF]

, 2013
Trinucleotide repeat (TNR) expansion is responsible for numerous human neurodegenerative diseases. However, the underlying mechanisms remain unclear. Recent studies have shown that DNA base excision repair (BER) can mediate TNR expansion and deletion by ...
Lai, Yanhao, Liu, Yuan, Torner, Justin, Xu, Meng, Zhang, Yanbin, Zhang, Zunzhen   +5 more
core   +1 more source

Effects of High‐ and Low‐Fat Meals on the Bioavailability and Pharmacokinetics of Votoplam, a HTT Gene Splicing Modifier

Clinical Pharmacology in Drug Development, EarlyView.
Abstract Votoplam is a novel, orally bioavailable, small molecule HTT gene splicing modifier that is being developed for the treatment of Huntington's disease. This was a single dose, open‐label, two‐period, crossover food effect study that evaluated the effect of high‐ and low‐fat meals on 20 mg votoplam in healthy participants. There was a washout of
Lucy Lee, Amy‐Lee Richards, Nageswara Reddy, Brian Beers, Lee Golden, Ronald Kong   +5 more
wiley   +1 more source

Group Testing Approach for Trinucleotide Repeat Expansion Disorder Screening [PDF]

Clinical Chemistry, 2016
Abstract BACKGROUND Fragile X syndrome (FXS, OMIM #300624) is an X-linked condition caused by trinucleotide repeat expansions in the 5′ UTR (untranslated region) of the fragile X mental retardation 1 (FMR1) gene. FXS testing is commonly performed in expanded carrier screening and has been proposed for
Kristjan Eerik, Kaseniit, Mark R, Theilmann, Alexander, Robertson, Eric A, Evans, Imran S, Haque   +4 more
openaire   +2 more sources

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Dissecting the roles of EIF4G homologs reveals DAP5 as a modifier of CGG repeat-associated toxicity in a Drosophila model of FXTAS

Neurobiology of Disease, 2023
Neurodegeneration in Fragile X-associated tremor/ataxia syndrome (FXTAS) is caused by a CGG trinucleotide repeat expansion in the 5′ UTR of FMR1. Expanded CGG repeat RNAs form stable secondary structures, which in turn support repeat-associated non-AUG ...
Indranil Malik, Yi-Ju Tseng, Clare M. Wieland, Katelyn M. Green, Kristina Zheng, Katyanne Calleja, Peter K. Todd   +6 more
doaj   +1 more source