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TITLE: Deficiency in classical nonhomologous end-joining-mediated repair of transcribed genes is linked to SCA3 pathogenesis
AUTHORS: Anirban Chakraborty; Nisha Tapryal; Tatiana Venkova; Joy Mitra; Velmarini Vasquez; Altaf H Sarker; Sara Duarte Silva; Weihan H Huai; Tetsuo Ashizawa; Gourisankar Ghosh; Patricia Maciel; Partha S Sarkar; Muralidhar L Hegde; Xu Chen; Tapas K Hazra;
PUBLISHED: 2020, SOURCE: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, VOLUME: 117, ISSUE: 14
INDEXED IN: Scopus WOS
2
TITLE: Polymorphisms in DNA methylatione-related genes are linked to the phenotype of Machado-Joseph disease
AUTHORS: Dongxue X Ding; Chunrong R Wang; Zhao Chen; Huirong R Peng; Kai Li; Xin Zhou; Yun Peng; Puzhi Z Wang; Xiaocan C Hou; Tianjiao J Li; Rong Qiu; Kun Xia; Jorge Sequeiros; Tetsuo Ashizawa; Beisha S Tang; Hong Jiang;
PUBLISHED: 2019, SOURCE: NEUROBIOLOGY OF AGING, VOLUME: 75
INDEXED IN: WOS
3
TITLE: Ubiquitin-related network underlain by (CAG)(n) loci modulate age at onset in Machado-Joseph disease  Full Text
AUTHORS: Zhao Chen; Chunrong R Wang; Caifa F Zheng; Zhe Long; Li Cao; Xunhua H Li; Huifang F Shang; Xinzhen Z Yin; Baorong R Zhang; Jingyu Y Liu; Dongxue X Ding; Yun Peng; Huirong R Peng; Wei Ye; Rong Qiu; Qian Pan; Kun Xia; Shengdi D Chen; Jorge Sequeiros; Tetsuo Ashizawa; Beisha S Tang; Hong Jiang; ...More
PUBLISHED: 2017, SOURCE: BRAIN, VOLUME: 140, ISSUE: 4
INDEXED IN: Scopus WOS
4
TITLE: The Role of the Mammalian DNA End-processing Enzyme Polynucleotide Kinase 3 '-Phosphatase in Spinocerebellar Ataxia Type 3 Pathogenesis  Full Text
AUTHORS: Arpita Chatterjee; Saikat Saha; Anirban Chakraborty; Anabela Silva Fernandes; Santi M Mandal; Andreia Neves Carvalho; Yongping P Liu; Raj K Pandita; Muralidhar L Hegde; Pavana M Hegde; Istvan Boldogh; Tetsuo Ashizawa; Arnulf H Koeppen; Tej K Pandita; Patricia Maciel; Partha S Sarkar; Tapas K Hazra;
PUBLISHED: 2015, SOURCE: PLOS GENETICS, VOLUME: 11, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
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TITLE: Inactivation of PNKP by Mutant ATXN3 Triggers Apoptosis by Activating the DNA Damage-Response Pathway in SCA3  Full Text
AUTHORS: Rui Gao; Yongping P Liu; Anabela Silva Fernandes; Xiang Fang; Adriana Paulucci Holthauzen; Arpita Chatterjee; Hang L Zhang; Tohru Matsuura; Sanjeev Choudhary; Tetsuo Ashizawa; Arnulf H Koeppen; Patricia Maciel; Tapas K Hazra; Partha S Sarkar;
PUBLISHED: 2015, SOURCE: PLOS GENETICS, VOLUME: 11, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
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TITLE: Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset  Full Text
AUTHORS: Eliana Marisa Ramos; Jeanne C Latourelle; Tammy Gillis; Jayalakshmi S Mysore; Ferdinando Squitieri; Alba Di Pardo; Stefano Di Donato; Cinzia Gellera; Michael R Hayden; Patrick J Morrison; Martha Nance; Christopher A Ross; Russell L Margolis; Estrella Gomez Tortosa; Carmen Ayuso; Oksana Suchowersky; Ronald J Trent; Elizabeth McCusker; Andrea Novelletto; Marina Frontali; Randi Jones; Tetsuo Ashizawa; Samuel Frank; Marie Helene Saint Hilaire; Steven M Hersch; Herminia D Rosas; Diane Lucente; Madaline B Harrison; Andrea Zanko; Ruth K Abramson; Karen Marder; James F Gusella; Jong Min Lee; Isabel Alonso ; Jorge Sequeiros ; Richard H Myers; Marcy E MacDonald; ...More
PUBLISHED: 2013, SOURCE: NEUROGENETICS, VOLUME: 14, ISSUE: 3-4
INDEXED IN: Scopus WOS CrossRef
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TITLE: Population stratification may bias analysis of PGC-1 alpha as a modifier of age at Huntington disease motor onset  Full Text
AUTHORS: Eliana Marisa Ramos; Jeanne C Latourelle; Ji Hyun Lee; Tammy Gillis; Jayalakshmi S Mysore; Ferdinando Squitieri; Alba Di Pardo; Stefano Di Donato; Michael R Hayden; Patrick J Morrison; Martha Nance; Christopher A Ross; Russell L Margolis; Estrella Gomez Tortosa; Carmen Ayuso; Oksana Suchowersky; Ronald J Trent; Elizabeth McCusker; Andrea Novelletto; Marina Frontali; Randi Jones; Tetsuo Ashizawa; Samuel Frank; Marie Helene Saint Hilaire; Steven M Hersch; Herminia D Rosas; Diane Lucente; Madaline B Harrison; Andrea Zanko; Karen Marder; James F Gusella; Jong Min Lee; Isabel Alonso ; Jorge Sequeiros ; Richard H Myers; Marcy E MacDonald; ...More
PUBLISHED: 2012, SOURCE: HUMAN GENETICS, VOLUME: 131, ISSUE: 12
INDEXED IN: Scopus WOS CrossRef
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TITLE: TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease  Full Text
AUTHORS: Ji Hyun Lee; Jong Min Lee; Eliana Marisa Ramos; Tammy Gillis; Jayalakshmi S Mysore; Shotaro Kishikawa; Tiffany Hadzi; Audrey E Hendricks; Michael R Hayden; Patrick J Morrison; Martha Nance; Christopher A Ross; Russell L Margolis; Ferdinando Squitieri; Cinzia Gellera; Estrella Gomez Tortosa; Carmen Ayuso; Oksana Suchowersky; Ronald J Trent; Elizabeth McCusker; Andrea Novelletto; Marina Frontali; Randi Jones; Tetsuo Ashizawa; Samuel Frank; Marie Helene Saint Hilaire; Steven M Hersch; Herminia D Rosas; Diane Lucente; Madaline B Harrison; Andrea Zanko; Ruth K Abramson; Karen Marder; Jorge Sequeiros ; Bernhard B Landwehrmeyer; Ira Shoulson; Richard H Myers; Marcy E MacDonald; James F Gusella; ...More
PUBLISHED: 2012, SOURCE: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, VOLUME: 424, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
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TITLE: Common SNP-Based Haplotype Analysis of the 4p16.3 Huntington Disease Gene Region
AUTHORS: Jong Min Lee; Tammy Gillis; Jayalakshmi Srinidhi Mysore; Eliana Marisa Ramos; Richard H Myers; Michael R Hayden; Patrick J Morrison; Martha Nance; Christopher A Ross; Russell L Margolis; Ferdinando Squitieri; Annamaria Griguoli; Stefano Di Donato; Estrella Gomez Tortosa; Carmen Ayuso; Oksana Suchowersky; Ronald J Trent; Elizabeth McCusker; Andrea Novelletto; Marina Frontali; Randi Jones; Tetsuo Ashizawa; Samuel Frank; Marie Helene Saint Hilaire; Steven M Hersch; Herminia D Rosas; Diane Lucente; Madaline B Harrison; Andrea Zanko; Ruth K Abramson; Karen Marder; Jorge Sequeiros ; Marcy E MacDonald; James F Gusella; ...More
PUBLISHED: 2012, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 90, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
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TITLE: CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion
AUTHORS: M Lee; Ramos, EM; H Lee; Gillis, T; Mysore, JS; Hayden, MR; Warby, SC; Morrison, P; Nance, M; Ross, CA; Margolis, RL; Squitieri, F; Orobello, S; Di Donato, S; Gomez Tortosa, E; Ayuso, C; Suchowersky, O; Trent, RJA; McCusker, E; Novelletto, A; Frontali, M; Jones, R; Ashizawa, T; Frank, S; Saint Hilaire, MH; Hersch, SM; Rosas, HD; Lucente, D; Harrison, MB; Zanko, A; Abramson, RK; Marder, K; Sequeiros, J ; Paulsen, JS; Landwehrmeyer, GB; Myers, RH; MacDonald, ME; Gusella, JF; ...More
PUBLISHED: 2012, SOURCE: NEUROLOGY, VOLUME: 78, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef
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