Harvard Catalyst Profiles

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Ricardo Mouro Pinto, Ph.D.

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Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Roy JCL, Vitalo A, Andrew MA, Mota-Silva E, Kovalenko M, Burch Z, Nhu AM, Cohen PE, Grabczyk E, Wheeler VC, Mouro Pinto R. Somatic CAG expansion in Huntington's disease is dependent on the MLH3 endonuclease domain, which can be excluded via splice redirection. Nucleic Acids Res. 2021 04 19; 49(7):3907-3918. PMID: 33751106; PMCID: PMC8053082.
    Citations: 3     Fields:    Translation:HumansAnimalsCells
  2. Kovalenko M, Erdin S, Andrew MA, St Claire J, Shaughnessey M, Hubert L, Neto JL, Stortchevoi A, Fass DM, Mouro Pinto R, Haggarty SJ, Wilson JH, Talkowski ME, Wheeler VC. Histone deacetylase knockouts modify transcription, CAG instability and nuclear pathology in Huntington disease mice. Elife. 2020 09 29; 9. PMID: 32990597.
    Citations: 5     Fields:    Translation:AnimalsCells
  3. 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, Jayadaev S, Keene CD, Bird TD, Lucente D, Vonsattel JP, Orr H, Saft C, Petrasch-Parwez E, Wheeler VC. Patterns of CAG repeat instability in the central nervous system and periphery in Huntington's disease and in spinocerebellar ataxia type 1. Hum Mol Genet. 2020 08 29; 29(15):2551-2567. PMID: 32761094.
    Citations: 27     Fields:    Translation:HumansCells
  4. Ellis N, Tee A, McAllister B, Massey T, McLauchlan D, Stone T, Correia K, Loupe J, Kim KH, Barker D, Hong EP, Chao MJ, Long JD, Lucente D, Vonsattel JPG, Pinto RM, Elneel KA, Ramos EM, Mysore JS, Gillis T, Wheeler VC, Medway C, Hall L, Kwak S, Sampaio C, Ciosi M, Maxwell A, Chatzi A, Monckton DG, Orth M, Landwehrmeyer GB, Paulsen JS, Shoulson I, Myers RH, van Duijn E, Rickards H, MacDonald ME, Lee JM, Gusella JF, Jones L, Holmans P. Genetic Risk Underlying Psychiatric and Cognitive Symptoms in Huntington's Disease. Biol Psychiatry. 2020 05 01; 87(9):857-865. PMID: 32087949; PMCID: PMC7156911.
    Citations: 8     Fields:    Translation:Humans
  5. Aviolat H, Pinto RM, Godschall E, Murtha R, Richey HE, Sapp E, Vodicka P, Wheeler VC, Kegel-Gleason KB, DiFiglia M. Assessing average somatic CAG repeat instability at the protein level. Sci Rep. 2019 12 16; 9(1):19152. PMID: 31844074.
    Citations: 7     Fields:    Translation:HumansAnimalsCells
  6. CAG Repeat Not Polyglutamine Length Determines Timing of Huntington's Disease Onset. Cell. 2019 08 08; 178(4):887-900.e14. PMID: 31398342.
    Citations: 134     Fields:    Translation:HumansCells
  7. Coelho MC, Pinto RM, Murray AW. Heterozygous mutations cause genetic instability in a yeast model of cancer evolution. Nature. 2019 02; 566(7743):275-278. PMID: 30700905.
    Citations: 16     Fields:    Translation:HumansAnimalsCells
  8. Neto JL, Lee JM, Afridi A, Gillis T, Guide JR, Dempsey S, Lager B, Alonso I, Wheeler VC, Pinto RM. Genetic Contributors to Intergenerational CAG Repeat Instability in Huntington's Disease Knock-In Mice. Genetics. 2017 02; 205(2):503-516. PMID: 27913616.
    Citations: 12     Fields:    Translation:AnimalsCells
  9. Identification of Genetic Factors that Modify Clinical Onset of Huntington's Disease. Cell. 2015 Jul 30; 162(3):516-26. PMID: 26232222.
    Citations: 245     Fields:    Translation:HumansCells
  10. Pinto RM, 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. Mismatch repair genes Mlh1 and Mlh3 modify CAG instability in Huntington's disease mice: genome-wide and candidate approaches. PLoS Genet. 2013 Oct; 9(10):e1003930. PMID: 24204323.
    Citations: 101     Fields:    Translation:HumansAnimalsCells
  11. Al-Mahdawi S, Sandi C, Mouro Pinto R, Pook MA. Friedreich ataxia patient tissues exhibit increased 5-hydroxymethylcytosine modification and decreased CTCF binding at the FXN locus. PLoS One. 2013; 8(9):e74956. PMID: 24023969.
    Citations: 20     Fields:    Translation:HumansCells
  12. Bourn RL, De Biase I, Pinto RM, Sandi C, Al-Mahdawi S, Pook MA, Bidichandani SI. Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues. PLoS One. 2012; 7(10):e47085. PMID: 23071719.
    Citations: 29     Fields:    Translation:HumansAnimalsCells
  13. Ezzatizadeh V, Pinto RM, Sandi C, Sandi M, Al-Mahdawi S, Te Riele H, Pook MA. The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model. Neurobiol Dis. 2012 Apr; 46(1):165-71. PMID: 22289650.
    Citations: 36     Fields:    Translation:AnimalsCells
  14. Lee JM, Pinto RM, Gillis T, St Claire JC, Wheeler VC. Quantification of age-dependent somatic CAG repeat instability in Hdh CAG knock-in mice reveals different expansion dynamics in striatum and liver. PLoS One. 2011; 6(8):e23647. PMID: 21897851.
    Citations: 36     Fields:    Translation:HumansAnimalsCells
  15. Sandi C, Pinto RM, Al-Mahdawi S, Ezzatizadeh V, Barnes G, Jones S, Rusche JR, Gottesfeld JM, Pook MA. Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model. Neurobiol Dis. 2011 Jun; 42(3):496-505. PMID: 21397024.
    Citations: 57     Fields:    Translation:Animals
  16. Al-Mahdawi S, Pinto RM, Ismail O, Varshney D, Lymperi S, Sandi C, Trabzuni D, Pook M. The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues. Hum Mol Genet. 2008 Mar 01; 17(5):735-46. PMID: 18045775.
    Citations: 139     Fields:    Translation:HumansAnimalsCells
  17. Al-Mahdawi S, Pinto RM, Varshney D, Lawrence L, Lowrie MB, Hughes S, Webster Z, Blake J, Cooper JM, King R, Pook MA. GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology. Genomics. 2006 Nov; 88(5):580-90. PMID: 16919418.
    Citations: 118     Fields:    Translation:HumansAnimalsCells
  18. Al-Mahdawi S, Pinto RM, Ruddle P, Carroll C, Webster Z, Pook M. GAA repeat instability in Friedreich ataxia YAC transgenic mice. Genomics. 2004 Aug; 84(2):301-10. PMID: 15233994.
    Citations: 50     Fields:    Translation:AnimalsCells
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.