López-Castel A - Search Results

1

CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy.

Barbé L, Lanni S, López-Castel A, Franck S, Spits C, Keymolen K, Seneca S, Tomé S, Miron I, Letourneau J, Liang M, Choufani S, Weksberg R, Wilson MD, Sedlacek Z, Gagnon C, Musova Z, Chitayat D, Shannon P, Mathieu J, Sermon K, Pearson CE. Barbé L, et al. Among authors: lopez castel a. Am J Hum Genet. 2017 Mar 2;100(3):488-505. doi: 10.1016/j.ajhg.2017.01.033. Am J Hum Genet. 2017. PMID: 28257691 Free PMC article.

2

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.

López Castel A, Tomkinson AE, Pearson CE. López Castel A, et al. J Biol Chem. 2009 Sep 25;284(39):26631-45. doi: 10.1074/jbc.M109.034405. Epub 2009 Jul 22. J Biol Chem. 2009. PMID: 19628465 Free PMC article.

3

Repeat instability as the basis for human diseases and as a potential target for therapy.

López Castel A, Cleary JD, Pearson CE. López Castel A, et al. Nat Rev Mol Cell Biol. 2010 Mar;11(3):165-70. doi: 10.1038/nrm2854. Nat Rev Mol Cell Biol. 2010. PMID: 20177394 Review.

4

Tissue- and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus.

Cleary JD, Tomé S, López Castel A, Panigrahi GB, Foiry L, Hagerman KA, Sroka H, Chitayat D, Gourdon G, Pearson CE. Cleary JD, et al. Nat Struct Mol Biol. 2010 Sep;17(9):1079-87. doi: 10.1038/nsmb.1876. Epub 2010 Aug 15. Nat Struct Mol Biol. 2010. PMID: 20711191

5

Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues.

López Castel A, Nakamori M, Tomé S, Chitayat D, Gourdon G, Thornton CA, Pearson CE. López Castel A, et al. Hum Mol Genet. 2011 Jan 1;20(1):1-15. doi: 10.1093/hmg/ddq427. Epub 2010 Nov 1. Hum Mol Genet. 2011. PMID: 21044947 Free PMC article.

6

Identification of restriction endonucleases sensitive to 5-cytosine methylation at non-CpG sites, including expanded (CAG)n/(CTG)n repeats.

López Castel A, Nakamori M, Thornton CA, Pearson CE. López Castel A, et al. Epigenetics. 2011 Apr;6(4):416-20. doi: 10.4161/epi.6.4.14953. Epub 2011 Apr 1. Epigenetics. 2011. PMID: 21364324 Free PMC article.

7

Maternal germline-specific effect of DNA ligase I on CTG/CAG instability.

Tomé S, Panigrahi GB, López Castel A, Foiry L, Melton DW, Gourdon G, Pearson CE. Tomé S, et al. Hum Mol Genet. 2011 Jun 1;20(11):2131-43. doi: 10.1093/hmg/ddr099. Epub 2011 Mar 5. Hum Mol Genet. 2011. PMID: 21378394

8

Replacement of the myotonic dystrophy type 1 CTG repeat with 'non-CTG repeat' insertions in specific tissues.

Axford MM, López-Castel A, Nakamori M, Thornton CA, Pearson CE. Axford MM, et al. J Med Genet. 2011 Jul;48(7):438-43. doi: 10.1136/jmg.2010.085944. Epub 2011 May 27. J Med Genet. 2011. PMID: 21622935 Free PMC article.

9

(CCUG)_n RNA toxicity in a Drosophila model of myotonic dystrophy type 2 (DM2) activates apoptosis.

Yenigun VB, Sirito M, Amcheslavky A, Czernuszewicz T, Colonques-Bellmunt J, García-Alcover I, Wojciechowska M, Bolduc C, Chen Z, López Castel A, Krahe R, Bergmann A. Yenigun VB, et al. Among authors: lopez castel a. Dis Model Mech. 2017 Aug 1;10(8):993-1003. doi: 10.1242/dmm.026179. Epub 2017 Jun 16. Dis Model Mech. 2017. PMID: 28623239 Free PMC article.

10

In vivo strategies for drug discovery in myotonic dystrophy disorders.

Garcia-Alcover I, López Castel A, Perez-Alonso M, Artero R. Garcia-Alcover I, et al. Among authors: lopez castel a. Drug Discov Today Technol. 2013 Spring;10(1):e97-102. doi: 10.1016/j.ddtec.2012.02.001. Drug Discov Today Technol. 2013. PMID: 24050236 Review.

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