Nucleic Acids Research, March 2021
Somatic CAG expansion in Huntington’s disease is dependent on the MLH3 endonuclease domain, which can be excluded via splice redirection
Roy JCL*, Vitalo A*, Andrew MA, Mota-Silva E, Kovalenko M, Burch Z, Nhu AM, Cohen PE, Grabczyk E, Wheeler VC, Mouro Pinto R.
Journal of Huntington’s Disease, December 2021
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’s Disease
Zhao X, Kumari D, Miller CJ, Kim, GY, Hayward B, Vitalo AG, Mouro Pinto R, Usdin K.
Human Molecular Genetics, November 2020
Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington’s disease knock-in mice is blocked by Mlh1 knock-out
Loupe JM, Mouro Pinto R, Kim KH, Gillis T, Mysore JS, Andrew MA, Kovalenko M, Murtha R, Seong I, Gusella JF, Kwak S, Howland D, Lee R, Lee JM, Wheeler VC, MacDonald ME.
Human Molecular Genetics, August 2020
Patterns of CAG repeat instability in the central nervous system and periphery in Huntington’s disease and in spinocerebellar ataxia type 1
Mouro Pinto R*, Arning L*, Giordano JV*, Razghandi P, Andrew MA, Gillis T, Correia K, Mysore JS, Grote Urtubey DM, Parwez CR, von Hein SM, Clark HB, Nguyen HP, Förster E, Beller A, Haydaev S, Keene CD, Bird TD, Lucente D, Vonsattel JP, Orr H, Saft C, Petrasch-Parwez E, Wheeler VC.
Scientific Reports, December 2019
Assessing average somatic CAG repeat instability at the protein level
Aviolat H, Mouro Pinto R, Godschall E, Murtha R, Richey HE, Sapp E, Vodicka P, Wheeler VC, Kegel-Gleason K, DiFiglia M.
Cell, August 2019
CAG Repeat Not Polyglutamine Length Determines Timing of Huntington’s Disease Onset
Genetic Modifiers of Huntington’s Disease (GeM-HD) Consortium.
Genetics, February 2017
Genetic Contributors to Intergenerational CAG Repeat Instability in Huntington’s Disease Knock-In Mice
Neto JL, Lee JM, Afridi A, Gillis T, Guide JR, Dempsey S, Lager B, Alonso I, Wheeler VC, Mouro Pinto R.
Cell, July 2015
Identification of Genetic Factors that Modify Clinical Onset of Huntington’s Disease
Genetic Modifiers of Huntington’s Disease (GeM-HD) Consortium
PLOS Genetics, October 2013
Mismatch Repair Genes Mlh1 and Mlh3 Modify CAG Instability in Huntington’s Disease Mice: Genome-Wide and Candidate Approaches
Mouro Pinto R, Dragileva E, Kirby A, Lloret A, Lopez E, St. Claire J, Panigrahi GB, Hou C, Holloway K, Gillis T, Guide JR, Cohen PE, Li GM, Pearson CE, Daly MJ, Wheeler VC.