Results 1 to 10 of about 10,792 (169)

The Role of NRF2 in Trinucleotide Repeat Expansion Disorders [PDF]

Antioxidants
Trinucleotide repeat expansion disorders, a diverse group of neurodegenerative diseases, are caused by abnormal expansions within specific genes. These expansions trigger a cascade of cellular damage, including protein aggregation and abnormal RNA ...
Kuo-Hsuan Chang, Chiung-Mei Chen
doaj   +6 more sources

Loss of Corneal Nerves and Corneal Haze in Patients with Fuchs’ Endothelial Corneal Dystrophy with the Transcription Factor 4 Gene Trinucleotide Repeat Expansion [PDF]

Ophthalmology Science, 2023
Objective: Seventy percent of Fuchs’ endothelial corneal dystrophy (FECD) cases are caused by an intronic trinucleotide repeat expansion in the transcription factor 4 gene (TCF4). The objective of this study was to characterize the corneal subbasal nerve
Matthew Gillings, MD, Andrew Mastro, MD, Xunzhi Zhang, Kelly Kiser, MD, Jane Gu, Chao Xing, PhD, Danielle M. Robertson, OD, PhD, W. Matthew Petroll, PhD, V. Vinod Mootha, MD   +8 more
doaj   +4 more sources

Small non-coding RNAs add complexity to the RNA pathogenic mechanisms in trinucleotide repeat expansion diseases [PDF]

Frontiers in Molecular Neuroscience, 2013
Trinucleotide-repeat expansion diseases (TREDs) are a group of inherited human genetic disorders normally involving late-onset neurological/neurodegenerative affectation.
Eulalia eMarti, Eulalia eMarti, Xavier eEstivill, Xavier eEstivill   +3 more
doaj   +4 more sources

Structural and Dynamical Properties of Nucleic Acid Hairpins Implicated in Trinucleotide Repeat Expansion Diseases [PDF]

Biomolecules
Dynamic mutations in some human genes containing trinucleotide repeats are associated with severe neurodegenerative and neuromuscular disorders—known as Trinucleotide (or Triplet) Repeat Expansion Diseases (TREDs)—which arise when the repeat number of ...
Feng Pan, Pengning Xu, Christopher Roland, Celeste Sagui, Keith Weninger   +4 more
doaj   +2 more sources

Trinucleotide Repeat Expansion Diseases, RNAi, and Cancer. [PDF]

Trends Cancer, 2018
Many neurodegenerative diseases are caused by unstable trinucleotide repeat (TNR) expansions located in disease-associated genes. siRNAs based on CAG repeat expansions effectively kill cancer cell lines in vitro through RNAi. They also cause significant reduction in tumor growth in a human ovarian cancer mouse model with no toxicity to the treated mice.
Murmann AE, Yu J, Opal P, Peter ME.
europepmc   +4 more sources

TCF4 trinucleotide repeat expansion drives distinct proteomic signatures in Fuchs endothelial corneal dystrophy [PDF]

Scientific Reports
The aims of this study were to use an isogenic cell model system to investigate the proteomic consequences of TCF4 trinucleotide repeat expansion in Fuchs endothelial corneal dystrophy (FECD) and to identify potential molecular pathways contributing to ...
Taichi Yuasa, Tatsuya Nakagawa, Tetsuro Honda, Go Nishiuchi, Masakazu Sato, Ayumi Tokunaga, Makiko Nakahara, Theofilos Tourtas, Ursula Schlötzer-Schrehardt, Friedrich Kruse, Prema Padmanabhan, Amit Chatterjee, Gajanan Sathe, Vivek Ghose, Narayanan Janakiraman, Noriko Koizumi, Sailaja V. Elchuri, Naoki Okumura   +17 more
doaj   +2 more sources

Mechanism of trinucleotide repeat expansion by MutSβ-MutLγ and contraction by FAN1 [PDF]

Nature Communications
Triplet repeat expansion underlies multiple pathologies, including Huntington’s disease, often arising in somatic non-dividing tissues such as the brain. Despite identification of genetic modifiers, mechanistic insights remain limited.
Issam Senoussi, Valentina Mengoli, Arianna Cerana, Andrea Rinaldi, Andrés Marco, Giordano Reginato, Simone G. Moro, Ananya Acharya, Megha Roy, Akshay Jayachandran, Elda Cannavo, Ilaria Ceppi, Petr Cejka   +12 more
doaj   +2 more sources

RTEL1 Inhibits Trinucleotide Repeat Expansions and Fragility [PDF]

Cell Reports, 2014
Human RTEL1 is an essential, multifunctional helicase that maintains telomeres, regulates homologous recombination, and helps prevent bone marrow failure.
Aisling Frizzell, Jennifer H.G. Nguyen, Mark I.R. Petalcorin, Katherine D. Turner, Simon J. Boulton, Catherine H. Freudenreich, Robert S. Lahue   +6 more
doaj   +4 more sources

Comparative (Computational) Analysis of the DNA Methylation Status of Trinucleotide Repeat Expansion Diseases [PDF]

Journal of Nucleic Acids, 2013
Previous studies have examined DNA methylation in different trinucleotide repeat diseases. We have combined this data and used a pattern searching algorithm to identify motifs in the DNA surrounding aberrantly methylated CpGs found in the DNA of ...
Mohammadmersad Ghorbani, Simon J. E. Taylor, Mark A. Pook, Annette Payne   +3 more
doaj   +2 more sources

Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia

BioTechniques, 2011
Friedreich ataxia is a neurodegenerative disorder caused by the expansion of a GAA trinucleotide repeat sequence within the first intron of the FXN gene.
Timothy P. Holloway, Simone M. Rowley, Martin B. Delatycki, Joseph P. Sarsero   +3 more
doaj   +3 more sources