Results 31 to 40 of about 10,792 (169)

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., Bhaskar, Sanjeev S., Miyahara, Masaki, Dalgliesh, Gillian L., Bidichandani, Sanjay I.   +4 more
openaire   +2 more sources

Mechanism of Repeat-Associated MicroRNAs in Fragile X Syndrome

Neural Plasticity, 2012
The majority of the human genome is comprised of non-coding DNA, which frequently contains redundant microsatellite-like trinucleotide repeats. Many of these trinucleotide repeats are involved in triplet repeat expansion diseases (TREDs) such as fragile
Karen Kelley, Shin-Ju E. Chang, Shi-Lung Lin   +2 more
doaj   +1 more source

The Startling Role of Mismatch Repair in Trinucleotide Repeat Expansions [PDF]

Cells, 2021
Trinucleotide repeats are a peculiar class of microsatellites whose expansions are responsible for approximately 30 human neurological or developmental disorders. The molecular mechanisms responsible for these expansions in humans are not totally understood, but experiments in model systems such as yeast, transgenic mice, and human cells have brought ...
openaire   +3 more sources

MSH2 ATPase domain mutation affects CTG*CAG repeat instability in transgenic mice. [PDF]

PLoS Genetics, 2009
Myotonic dystrophy type 1 (DM1) is associated with one of the most highly unstable CTG*CAG repeat expansions. The formation of further repeat expansions in transgenic mice carrying expanded CTG*CAG tracts requires the mismatch repair (MMR) proteins MSH2 ...
Stéphanie Tomé, Ian Holt, Winfried Edelmann, Glenn E Morris, Arnold Munnich, Christopher E Pearson, Geneviève Gourdon   +6 more
doaj   +1 more source

CAG Repeat Instability in the Peripheral and Central Nervous System of Transgenic Huntington’s Disease Monkeys

Biomedicines, 2022
Huntington’s Disease (HD) is an autosomal dominant disease that results in severe neurodegeneration with no cure. HD is caused by the expanded CAG trinucleotide repeat (TNR) on the Huntingtin gene (HTT). Although the somatic and germline expansion of the
In K. Cho, Faye Clever, Gordon Hong, Anthony W. S. Chan   +3 more
doaj   +1 more source

Progressive GAA.TTC repeat expansion in human cell lines. [PDF]

PLoS Genetics, 2009
Trinucleotide repeat expansion is the genetic basis for a sizeable group of inherited neurological and neuromuscular disorders. Friedreich ataxia (FRDA) is a relentlessly progressive neurodegenerative disorder caused by GAA.TTC repeat expansion in the ...
Scott Ditch, Mimi C Sammarco, Ayan Banerjee, Ed Grabczyk   +3 more
doaj   +1 more source

Genetic epidemiological characteristics of a Hungarian subpopulation of patients with Huntington’s disease

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, Dénes Zádori, Gábor Veres, Katalin Jakab, Gabriella Gárdián, Eszter Tóth, Tamás Zsigmond Kincses, László Vécsei, András Ajtay, Dániel Bereczki, Péter Klivényi   +10 more
doaj   +1 more source

Data mining revealed no other trinucleotide repeat expansion associated with the Huntington's disease biomarker (CAG)

Clinical Parkinsonism & Related Disorders
The CAG trinucleotide repeat expansion is believed to be the only expansion associated with Huntington's Disease and other phenotypically similar genetic diseases.
Omar Alaqeeli
doaj   +1 more source

A Brain‐Penetrant Nanobody Reveals GSK3β‐Driven Proline‐Directed Phosphorylation as a Master Regulator of Ischemic Neurodegeneration

Advanced Science, EarlyView.
A brain‐targeted nanoparticle enables delivery of a therapeutic nanobody (Nb.29E9) that inhibits pathogenic GSK3β signaling. This intervention restores AMPK/mTORC1/TGFβ homeostasis, attenuates neuroinflammation and oxidative stress, and promotes long‐term functional recovery after ischemic stroke.
Lan Li, Muyang Li, Lei Sun, Ying Yang, Yuanshun Wu, Ziyi Yin, Anni Wang, Peiyang Zhou, Shaoxiang Luo, Jian Chen, Jun Qin, Zhibing Ai, Zilong Yuan, Zhiqiang Dong, Min Zhang   +14 more
wiley   +1 more source

Single‐Cell RNA Editing Identifies T Cell ADAR1 as a Key Regulator of Immune Exhaustion and Anti‐PD‐1 Resistance in Colorectal Cancer

Advanced Science, EarlyView.
Single‐cell RNA editing analysis identifies ADAR1 as a regulator of dysfunctional T cell states in colorectal cancer. Elevated ADAR1 activity promotes T cell exhaustion and impairs antitumor immunity partly through TGF‐β‐SMAD signaling, contributing to anti‐PD‐1 resistance and highlighting T cell ADAR1 as a potential therapeutic target and biomarker ...
Da Kang, Song‐Zuo Xie, Yong‐Zhou Luo, Xin‐Pei Deng, Xi‐Rong Tan, Ze‐Geng Chen, Ling‐Xing Zeng, Gong Chen, Pei‐Rong Ding, Zhi‐Zhong Pan, Rong‐Xin Zhang   +10 more
wiley   +1 more source