Results 1 to 10 of about 82,624 (115)

Dynamic DNA Energy Landscapes and Substrate Complexity in Triplet Repeat Expansion and DNA Repair

Biomolecules, 2019
DNA repeat domains implicated in DNA expansion diseases exhibit complex conformational and energy landscapes that impact biological outcomes. These landscapes include ensembles of entropically driven positional interchanges between isoenergetic, isomeric
Jens Völker, G. Eric Plum, Vera Gindikin, Kenneth J. Breslauer   +3 more
doaj   +3 more sources

Oxidative Stress in DNA Repeat Expansion Disorders: A Focus on NRF2 Signaling Involvement [PDF]

Biomolecules, 2020
Piergiorgio la Rosa, Sara Petrillo, Enrico Bertini   +2 more
exaly   +2 more sources

Accurate DNA methylation predictor for C9orf72 repeat expansion alleles in the pathogenic range

HGG Advances
Summary: The hexanucleotide (G4C2) repeat expansion in the promoter region of C9orf72 is the most frequent genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS).
Naren Ramesh, Alexandria Evans, Kevin Wojta, Zhongan Yang, Marco P. Boks, René S. Kahn, Sterre C.M. de Boer, Sven J. van der Lee, Yolande A.L. Pijnenburg, Lianne M. Reus, Roel A. Ophoff   +10 more
doaj   +3 more sources

Long somatic DNA-repeat expansion drives neurodegeneration in Huntington’s disease [PDF]

Cell
Robert E Handsaker
exaly   +2 more sources

Chronic Exposure to Cadmium and Antioxidants Does Not Affect the Dynamics of Expanded CAG•CTG Trinucleotide Repeats in a Mouse Cell Culture System of Unstable DNA

Frontiers in Cellular Neuroscience, 2021
More than 30 human disorders are caused by the expansion of simple sequence DNA repeats, among which triplet repeats remain the most frequent. Most trinucleotide repeat expansion disorders affect primarily the nervous system, through mechanisms of ...
Mário Gomes-Pereira, Darren G. Monckton
doaj   +1 more source

Dual-gRNA approach with limited off-target effect corrects C9ORF72 repeat expansion in vivo

Scientific Reports, 2022
C9ORF72 GGGGCC repeat expansion is the most common genetic cause for amyotrophic lateral sclerosis and frontotemporal dementia, which generates abnormal DNA and RNA structures and produces toxic proteins.
Xuejiao Piao, Dawei Meng, Xue Zhang, Qiang Song, Hailong Lv, Yichang Jia   +5 more
doaj   +1 more source

Stool is a sensitive and noninvasive source of DNA for monitoring expansion in repeat expansion disease mouse models

Disease Models & Mechanisms, 2022
Repeat expansion diseases are a large group of human genetic disorders caused by expansion of a specific short tandem repeat tract. Expansion in somatic cells affects age of onset and disease severity in some of these disorders.
Xiaonan Zhao, Cassandra McHugh, Sydney R. Coffey, Diego Antonio Jimenez, Elizabeth Adams, Jeffrey B. Carroll, Karen Usdin   +6 more
doaj   +1 more source

How sequence alterations enhance the stability and delay expansion of DNA triplet repeat domains

QRB Discovery, 2023
DNA sequence alterations within DNA repeat domains inexplicably enhance the stability and delay the expansion of interrupted repeat domains. Here we propose mechanisms that rationalise such unanticipated outcomes.
Jens Völker, Kenneth J. Breslauer
doaj   +1 more source

Gene–Environment Interactions in Repeat Expansion Diseases: Mechanisms of Environmentally Induced Repeat Instability

Biomedicines, 2023
Short tandem repeats (STRs) are units of 1–6 base pairs that occur in tandem repetition to form a repeat tract. STRs exhibit repeat instability, which generates expansions or contractions of the repeat tract.
Stephanie Calluori, Rebecca Stark, Brandon L. Pearson   +2 more
doaj   +1 more source

Heterogeneous migration routes of DNA triplet repeat slip-outs

Biophysical Reports, 2022
It is unclear how the length of a repetitive DNA tract determines the onset and progression of repeat expansion diseases, but the dynamics of secondary DNA structures formed by repeat sequences are believed to play an important role.
Simona Bianco, Tianyu Hu, Oliver Henrich, Steven W. Magennis   +3 more
doaj   +1 more source