Results 61 to 70 of about 39,855 (249)

Epigenetics and triplet-repeat neurological diseases [PDF]

, 2015
The term ‘junk DNA’ has been reconsidered following the delineation of the functional significance of repetitive DNA regions. Typically associated with centromeres and telomeres, DNA repeats are found in nearly all organisms throughout their genomes ...
Festenstein, RJ, Nageshwaran, S
core   +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

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

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 ...
Moon J.
europepmc   +2 more sources

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

Clinical and genetic analysis of 29 Brazilian patients with Huntington’s disease-like phenotype [PDF]

, 2011
Huntington’s disease (HD) is a neurodegenerative disorder characterized by chorea, behavioral disturbances and dementia, caused by a pathological expansion of the CAG trinucleotide in the HTT gene. Several patients have been recognized with the typical
Adrian Danek, Alexis Brice, Andrew SE, Bauer I, Bauer P, Bayreuther C, Benedikt Bader, Cellini E, Costa MC, Cécile Cazeneuve, Dobson-Stone C, Guilherme Riccioppo Rodrigues, Hirose G, Holmes SE, IBGE, Iscia Lopes-Cendes, Keckarević M, Krause A, Kremer B, Margolis RL, Martins S, McNeill A, Odile Russaouen, Rodrigues GR, Rodrigues GR, Rodriguez-Revenga L, Rosenblatt A, Ruth H. Walker, Santos C, Schmitz-Hübsch T, Stevanin G, Sułek-Piatkowska A, Teive HAG, Vitor Tumas, Vuillaume I, Wardle M, Warner JP, Wild EJ, Wilson Marques Jr.   +38 more
core   +3 more sources

5' UTR CGG repeat expansion in GIPC1 is associated with oculopharyngodistal myopathy.

Brain : a journal of neurology, 2020
Oculopharyngodistal myopathy is a late-onset degenerative muscle disorder characterized by ptosis and weakness of the facial, pharyngeal, and distal limb muscles.
J. Xi, Xilu Wang, D. Yue, T. Dou, Qunfeng Wu, Jun Lu, Yiqi Liu, Wenbo Yu, K. Qiao, Jie Lin, S. Luo, Jing Li, Ailian Du, Jihong Dong, Yan Chen, L. Luo, Jie Yang, Z. Niu, Zonghui Liang, Chongbo Zhao, Jiahong Lu, Wenhua Zhu, Yan Zhou   +22 more
semanticscholar   +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

The ubiquitin-proteasome pathway in Huntington's disease. [PDF]

, 2008
The accumulation of mutant protein is a common feature of neurodegenerative disease. In Huntington's disease, a polyglutamine expansion in the huntingtin protein triggers neuronal toxicity.
Finkbeiner, Steven, Mitra, Siddhartha
core   +2 more sources

m6A Modulates RAN Translation From CAG Repeat Expansion RNA

Aggregate, EarlyView.
We described a novel role of N6‐methyladenosine in promoting non‐canonical repeat‐associated non‐AUG translation from CAG repeat expansion RNA. ABSTRACT Nucleotide repeat expansions contribute to the development of a number of neurodegenerative diseases.
Yuxiang Sun, Zhouxian Li, Hui Dai, Yinsheng Wang   +3 more
wiley   +1 more source