User profiles for "author:Arturo López-Castel"
Arturo López CastelUniversity of Valencia. BIOTECMED Research Institute Verified email at uv.es Cited by 1174 |
Repeat instability as the basis for human diseases and as a potential target for therapy
A López Castel, JD Cleary, CE Pearson - Nature reviews Molecular cell …, 2010 - nature.com
Expansions of repetitive DNA sequences cause numerous human neurological and
neuromuscular diseases. Ongoing repeat expansions in patients can exacerbate disease …
neuromuscular diseases. Ongoing repeat expansions in patients can exacerbate disease …
[HTML][HTML] The myotonic dystrophy type 1 drug development pipeline: 2022 edition
M Pascual-Gilabert, R Artero, A López-Castel - Drug discovery today, 2023 - Elsevier
Highlights•Twenty candidate drugs are in current preclinical and clinical phases in
DM1.•Three new interventional first-in-human clinical trials got underway during 2021 …
DM1.•Three new interventional first-in-human clinical trials got underway during 2021 …
[HTML][HTML] Myotonic dystrophy type 1 drug development: A pipeline toward the market
M Pascual-Gilabert, A López-Castel, R Artero - Drug Discovery Today, 2021 - Elsevier
Abstract Myotonic dystrophy type 1 (DM1) is a multisystemic neuromuscular genetic disease
with an estimated prevalence of approximately 1 million individuals based on its vast ethnic …
with an estimated prevalence of approximately 1 million individuals based on its vast ethnic …
Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues
A López Castel, M Nakamori, S Tome… - Human molecular …, 2011 - academic.oup.com
Myotonic dystrophy (DM1) affects multiple organs, shows age-dependent progression and is
caused by CTG expansions at the DM1 locus. We determined the DM1 CpG methylation …
caused by CTG expansions at the DM1 locus. We determined the DM1 CpG methylation …
[PDF][PDF] CpG methylation, a parent-of-origin effect for maternal-biased transmission of congenital myotonic dystrophy
L Barbé, S Lanni, A López-Castel, S Franck… - The American Journal of …, 2017 - cell.com
CTG repeat expansions in DMPK cause myotonic dystrophy (DM1) with a continuum of
severity and ages of onset. Congenital DM1 (CDM1), the most severe form, presents distinct …
severity and ages of onset. Congenital DM1 (CDM1), the most severe form, presents distinct …
Tissue-and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus
Myotonic dystrophy, caused by DM1 CTG/CAG repeat expansions, shows varying instability
levels between tissues and across ages within patients. We determined DNA replication …
levels between tissues and across ages within patients. We determined DNA replication …
Antagonistic roles of canonical and Alternative-RPA in disease-associated tandem CAG repeat instability
T Gall-Duncan, J Luo, CM Jurkovic, LA Fischer, K Fujita… - Cell, 2023 - cell.com
Expansions of repeat DNA tracts cause> 70 diseases, and ongoing expansions in brains
exacerbate disease. During expansion mutations, single-stranded DNAs (ssDNAs) form …
exacerbate disease. During expansion mutations, single-stranded DNAs (ssDNAs) form …
Maternal germline-specific effect of DNA ligase I on CTG/CAG instability
S Tomé, GB Panigrahi, A López Castel… - Human molecular …, 2011 - academic.oup.com
The instability of (CTG)•(CAG) repeats can cause> 15 diseases including myotonic
dystrophy, DM1. Instability can arise during DNA replication, repair or recombination, where …
dystrophy, DM1. Instability can arise during DNA replication, repair or recombination, where …
[HTML][HTML] Deciphering the complex molecular pathogenesis of myotonic dystrophy type 1 through omics studies
J Espinosa-Espinosa, A González-Barriga… - International Journal of …, 2022 - mdpi.com
Omics studies are crucial to improve our understanding of myotonic dystrophy type 1 (DM1),
the most common muscular dystrophy in adults. Employing tissue samples and cell lines …
the most common muscular dystrophy in adults. Employing tissue samples and cell lines …
Absence of MutSβ leads to the formation of slipped-DNA for CTG/CAG contractions at primate replication forks
MM Slean, GB Panigrahi, AL Castel, AB Pearson… - DNA repair, 2016 - Elsevier
Typically disease-causing CAG/CTG repeats expand, but rare affected families can display
high levels of contraction of the expanded repeat amongst offspring. Understanding …
high levels of contraction of the expanded repeat amongst offspring. Understanding …