Quantification of Age-Dependent Somatic CAG Repeat Instability in Hdh CAG Knock-In Mice Reveals Different Expansion Dynamics in Striatum and Liver

por Lee, Jong-Min, Pinto, Ricardo Mouro, Gillis, Tammy, St. Claire, Jason C., Wheeler, Vanessa C.
Publicado 2011

Pms2 Suppresses Large Expansions of the (GAA·TTC)(n) Sequence in Neuronal Tissues

por Bourn, Rebecka L., De Biase, Irene, Pinto, Ricardo Mouro, Sandi, Chiranjeevi, Al-Mahdawi, Sahar, Pook, Mark A., Bidichandani, Sanjay I.
Publicado 2012

Modifiers of Somatic Repeat Instability in Mouse Models of Friedreich Ataxia and the Fragile X-Related Disorders: Implications for the Mechanism of Somatic Expansion in Huntington’...

por Zhao, Xiaonan, Kumari, Daman, Miller, Carson J., Kim, Geum-Yi, Hayward, Bruce, Vitalo, Antonia G., Pinto, Ricardo Mouro, Usdin, Karen
Publicado 2021

Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model

por Sandi, Chiranjeevi, Pinto, Ricardo Mouro, Al-Mahdawi, Sahar, Ezzatizadeh, Vahid, Barnes, Glenn, Jones, Steve, Rusche, James R., Gottesfeld, Joel M., Pook, Mark A.
Publicado 2011

Genetic Contributors to Intergenerational CAG Repeat Instability in Huntington’s Disease Knock-In Mice

por Neto, João Luís, Lee, Jong-Min, Afridi, Ali, Gillis, Tammy, Guide, Jolene R., Dempsey, Stephani, Lager, Brenda, Alonso, Isabel, Wheeler, Vanessa C., Pinto, Ricardo Mouro
Publicado 2017

Assessing average somatic CAG repeat instability at the protein level

por Aviolat, Hubert, Pinto, Ricardo Mouro, Godschall, Elizabeth, Murtha, Ryan, Richey, Hannah E., Sapp, Ellen, Vodicka, Petr, Wheeler, Vanessa C., Kegel-Gleason, Kimberly B., DiFiglia, Marian
Publicado 2019

Approaches to Sequence the HTT CAG Repeat Expansion and Quantify Repeat Length Variation

por Ciosi, Marc, Cumming, Sarah A., Chatzi, Afroditi, Larson, Eloise, Tottey, William, Lomeikaite, Vilija, Hamilton, Graham, Wheeler, Vanessa C., Pinto, Ricardo Mouro, Kwak, Seung, Morton, A. Jennifer, Monckton, Darren G.
Publicado 2021

Mismatch Repair Genes Mlh1 and Mlh3 Modify CAG Instability in Huntington's Disease Mice: Genome-Wide and Candidate Approaches

por Pinto, Ricardo Mouro, Dragileva, Ella, Kirby, Andrew, Lloret, Alejandro, Lopez, Edith, St. Claire, Jason, Panigrahi, Gagan B., Hou, Caixia, Holloway, Kim, Gillis, Tammy, Guide, Jolene R., Cohen, Paula E., Li, Guo-Min, Pearson, Christopher E., Daly, Mark J., Wheeler, Vanessa C.
Publicado 2013

Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington’s disease knock-in mice is blocked by Mlh1 knock-out

por Loupe, Jacob M, Pinto, Ricardo Mouro, Kim, Kyung-Hee, Gillis, Tammy, Mysore, Jayalakshmi S, Andrew, Marissa A, Kovalenko, Marina, Murtha, Ryan, Seong, IhnSik, Gusella, James F, Kwak, Seung, Howland, David, Lee, Ramee, Lee, Jong-Min, Wheeler, Vanessa C, MacDonald, Marcy E
Publicado 2020

PMS1 as a target for splice modulation to prevent somatic CAG repeat expansion in Huntington’s disease

por McLean, Zachariah L., Gao, Dadi, Correia, Kevin, Roy, Jennie C. L., Shibata, Shota, Farnum, Iris N., Valdepenas-Mellor, Zoe, Rapuru, Manasa, Morini, Elisabetta, Ruliera, Jayla, Gillis, Tammy, Lucente, Diane, Kleinstiver, Benjamin P., Lee, Jong-Min, MacDonald, Marcy E., Wheeler, Vanessa C., Pinto, Ricardo Mouro, Gusella, James F.
Publicado 2023

Genetic Risk Underlying Psychiatric and Cognitive Symptoms in Huntington’s Disease

por Ellis, Natalie, Tee, Amelia, McAllister, Branduff, Massey, Thomas, McLauchlan, Duncan, Stone, Timothy, Correia, Kevin, Loupe, Jacob, Kim, Kyung-Hee, Barker, Douglas, Hong, Eun Pyo, Chao, Michael J., Long, Jeffrey D., Lucente, Diane, Vonsattel, Jean Paul G., Pinto, Ricardo Mouro, Elneel, Kawther Abu, Ramos, Eliana Marisa, Mysore, Jayalakshmi Srinidhi, Gillis, Tammy, Wheeler, Vanessa C., Medway, Christopher, Hall, Lynsey, Kwak, Seung, Sampaio, Cristina, Ciosi, Marc, Maxwell, Alastair, Chatzi, Afroditi, Monckton, Darren G., Orth, Michael, Landwehrmeyer, G. Bernhard, Paulsen, Jane S., Shoulson, Ira, Myers, Richard H., van Duijn, Erik, Rickards, Hugh, MacDonald, Marcy E., Lee, Jong-min, Gusella, James F., Jones, Lesley, Holmans, Peter
Publicado 2020