Friedreich Ataxia Patient Tissues Exhibit Increased 5-Hydroxymethylcytosine Modification and Decreased CTCF Binding at the FXN Locus

por Al-Mahdawi, Sahar, Sandi, Chiranjeevi, Mouro Pinto, Ricardo, Pook, Mark A.
Publicado 2013

Somatic CAG expansion in Huntington's disease is dependent on the MLH3 endonuclease domain, which can be excluded via splice redirection

por Roy, Jennie C L, Vitalo, Antonia, Andrew, Marissa A, Mota-Silva, Eduarda, Kovalenko, Marina, Burch, Zoe, Nhu, Anh M, Cohen, Paula E, Grabczyk, Ed, Wheeler, Vanessa C, Mouro Pinto, Ricardo
Publicado 2021

Histone deacetylase knockouts modify transcription, CAG instability and nuclear pathology in Huntington disease mice

por Kovalenko, Marina, Erdin, Serkan, Andrew, Marissa A, St Claire, Jason, Shaughnessey, Melissa, Hubert, Leroy, Neto, João Luís, Stortchevoi, Alexei, Fass, Daniel M, Mouro Pinto, Ricardo, Haggarty, Stephen J, Wilson, John H, Talkowski, Michael E, Wheeler, Vanessa C
Publicado 2020

Patterns of CAG repeat instability in the central nervous system and periphery in Huntington’s disease and in spinocerebellar ataxia type 1

por Mouro Pinto, Ricardo, Arning, Larissa, Giordano, James V, Razghandi, Pedram, Andrew, Marissa A, Gillis, Tammy, Correia, Kevin, Mysore, Jayalakshmi S, Grote Urtubey, Debora-M, Parwez, Constanze R, von Hein, Sarah M, Clark, H Brent, Nguyen, Huu Phuc, Förster, Eckart, Beller, Allison, Jayadaev, Suman, Keene, C Dirk, Bird, Thomas D, Lucente, Diane, Vonsattel, Jean-Paul, Orr, Harry, Saft, Carsten, Petrasch-Parwez, Elisabeth, Wheeler, Vanessa C
Publicado 2020