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Arturo López Castel
Researcher at University of Valencia
Publications - 13
Citations - 6423
Arturo López Castel is an academic researcher from University of Valencia. The author has contributed to research in topics: Trinucleotide repeat expansion & Myotonic dystrophy. The author has an hindex of 11, co-authored 13 publications receiving 6330 citations. Previous affiliations of Arturo López Castel include University of Toronto.
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Journal ArticleDOI
Table S2: Trans-factors and trinucleotide repeat instability Trans-factor
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Repeat instability as the basis for human diseases and as a potential target for therapy
Arturo López Castel,John D. Cleary,John D. Cleary,Christopher E. Pearson,Christopher E. Pearson +4 more
TL;DR: How repeat instability is mediated by DNA replication, repair, recombination, transcription and epigenetics may explain its contribution to pathogenesis and give insights into therapeutic strategies to block expansions or induce contractions.
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Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues
Arturo López Castel,Masayuki Nakamori,Stéphanie Tomé,David Chitayat,Geneviève Gourdon,Charles A. Thornton,Christopher E. Pearson +6 more
TL;DR: In humans, the C pG-free expanded CTG repeat appears to maintain a highly polarized pattern of CpG methylation at the DM1 locus, which varies markedly with age and tissues, while in DM1 adults, heart, liver and cortex showed high-to-moderate methylation levels, whereas cerebellum, kidney and skeletal muscle were devoid of methylation.
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Tissue- and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus.
John D. Cleary,Stéphanie Tomé,Arturo López Castel,Gagan B. Panigrahi,Laurent Foiry,Katharine A. Hagerman,Hana Sroka,David Chitayat,Geneviève Gourdon,Christopher E. Pearson +9 more
TL;DR: DNA replication profiles at the DM1 locus in patient fibroblasts and tissues from DM1 transgenic mice of various ages showing different instability were determined and varying replication progression may affect tissue- and age-specific repeat instability.
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CTG/CAG repeat instability is modulated by the levels of human DNA ligase I and its interaction with proliferating cell nuclear antigen: a distinction between replication and slipped-DNA repair.
TL;DR: The addition of purified proteins suggests that disruption of LigI and PCNA interactions influences trinucleotide repeat instability, and may be influenced by varying steady state levels of DNA ligase I in these tissues and during different developmental windows.