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

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

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Friedreich ataxia patient tissues exhibit increased 5-hydroxymethylcytosine modification and decreased CTCF binding at the FXN locus von Al-Mahdawi, Sahar, Sandi, Chiranjeevi, Mouro Pinto, Ricardo, Pook, Mark A

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Histone deacetylase knockouts modify transcription, CAG instability and nuclear pathology in Huntington disease mice von Kovalenko, Marina, Erdin, Serkan, Andrew, Marissa A., St Claire, Jason, Shaughnessey, Melissa, Hubert, Leroy, Neto, Joao Luis, Stortchevoi, Alexei, Fass, Daniel M., Pinto, Ricardo Mouro, Haggarty, Stephen J., Wilson, John H., Talkowski, Michael E., Wheeler, Vanessa C.

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Identification of Genetic Factors that Modify Clinical Onset of Huntington’s Disease von Lee, Jong-Min, Wheeler, Vanessa C., Chao, Michael J., Vonsattel, Jean Paul G., Pinto, Ricardo Mouro, Lucente, Diane, Abu-Elneel, Kawther, Ramos, Eliana Marisa, Mysore, Jayalakshmi Srinidhi, Gillis, Tammy, MacDonald, Marcy E., Gusella, James F., Harold, Denise, Stone, Timothy C., Escott-Price, Valentina, Han, Jun, Vedernikov, Alexey, Holmans, Peter, Jones, Lesley, Kwak, Seung, Mahmoudi, Mithra, Orth, Michael, Landwehrmeyer, G. Bernhard, Paulsen, Jane S., Dorsey, E. Ray, Shoulson, Ira, Myers, Richard H.

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

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Mismatch repair genes Mlh1 and Mlh3 modify CAG instability in Huntington's disease mice: genome-wide and candidate approaches von 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

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The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues von Al-Mahdawi, Sahar, Pinto, Ricardo Mouro, Ismail, Ozama, Varshney, Dhaval, Lymperi, Stefania, Sandi, Chiranjeevi, Trabzuni, Daniah, Pook, Mark

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Splice modulators target PMS1 to reduce somatic expansion of the Huntington’s disease-associated CAG repeat von McLean, Zachariah L., Gao, Dadi, Correia, Kevin, Roy, Jennie C. L., Shibata, Shota, Farnum, Iris N., Valdepenas-Mellor, Zoe, Kovalenko, Marina, Rapuru, Manasa, Morini, Elisabetta, Ruliera, Jayla, Gillis, Tammy, Lucente, Diane, Kleinstiver, Benjamin P., Lee, Jong-Min, MacDonald, Marcy E., Wheeler, Vanessa C., Mouro Pinto, Ricardo, Gusella, James F.

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Prolonged treatment with pimelic o -aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model von Sandi, Chiranjeevi, Pinto, Ricardo Mouro, Al-Mahdawi, Sahar, Ezzatizadeh, Vahid, Barnes, Glenn, Jones, Steve, Rusche, James R, Gottesfeld, Joel M, Pook, Mark A

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Quantification of age-dependent somatic CAG repeat instability in Hdh CAG knock-in mice reveals different expansion dynamics in striatum and liver von Lee, Jong-Min, Pinto, Ricardo Mouro, Gillis, Tammy, St Claire, Jason C, Wheeler, Vanessa C

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Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues von Bourn, Rebecka L, De Biase, Irene, Pinto, Ricardo Mouro, Sandi, Chiranjeevi, Al-Mahdawi, Sahar, Pook, Mark A, Bidichandani, Sanjay I

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The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model von Ezzatizadeh, Vahid, Pinto, Ricardo Mouro, Sandi, Chiranjeevi, Sandi, Madhavi, Al-Mahdawi, Sahar, te Riele, Hein, Pook, Mark A

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GAA repeat instability in Friedreich ataxia YAC transgenic mice von Al-Mahdawi, Sahar, Pinto, Ricardo Mouro, Ruddle, Piers, Carroll, Christopher, Webster, Zoe, Pook, Mark

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CAG Repeat Not Polyglutamine Length Determines Timing of Huntington’s Disease Onset von Lee, Jong-Min, 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, Abu Elneel, Kawther, Ramos, Eliana Marisa, Mysore, Jayalakshmi Srinidhi, Gillis, Tammy, Wheeler, Vanessa C., MacDonald, Marcy E., Gusella, James F., McAllister, Branduff, Massey, Thomas, Medway, Christopher, Stone, Timothy C., Hall, Lynsey, Jones, Lesley, Holmans, Peter, Kwak, Seung, Ehrhardt, Anka G., Sampaio, Cristina, Ciosi, Marc, Maxwell, Alastair, Chatzi, Afroditi, Monckton, Darren G., Orth, Michael, Landwehrmeyer, G. Bernhard, Paulsen, Jane S., Dorsey, E. Ray, Shoulson, Ira, Myers, Richard H.

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m6A modification of mutant huntingtin RNA promotes the biogenesis of pathogenic huntingtin transcripts von Pupak, Anika, Rodríguez-Navarro, Irene, Sathasivam, Kirupa, Singh, Ankita, Essmann, Amelie, del Toro, Daniel, Ginés, Silvia, Mouro Pinto, Ricardo, Bates, Gillian P, Vang Ørom, Ulf Andersson, Martí, Eulàlia, Brito, Verónica

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Assessing average somatic CAG repeat instability at the protein level von 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

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

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

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GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology von Al-Mahdawi, Sahar, Pinto, Ricardo Mouro, Varshney, Dhaval, Lawrence, Lorraine, Lowrie, Margaret B., Hughes, Sian, Webster, Zoe, Blake, Julian, Cooper, J. Mark, King, Rosalind, Pook, Mark A.

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