Splice modulators target PMS1 to reduce somatic expansion of the Huntington’s disease-associated CAG repeat

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

Source: Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/04c90e61e38c4922b3fb3425418eb127

Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat

Authors: Lindsey N. Campion, Alan Meijia Maza, Rachita Yadav, Ellen B. Penney, Micaela G. Murcar, Kevin Correia, Tammy Gillis, Cara Fernandez-Cerado, M. Salvie Velasco-Andrada, G. Paul Legarda, Niecy G. Ganza-Bautista, J. Benedict B. Lagarde, Patrick J. Acuña, Trisha Multhaupt-Buell, Gabrielle Aldykiewicz, Melanie L. Supnet, Jan K. De Guzman, Criscely Go, Nutan Sharma, Edwin L. Munoz, Mark C. Ang, Cid Czarina E. Diesta, D. Cristopher Bragg, Laurie J. Ozelius, Vanessa C. Wheeler

Source: Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-16 (2022)

Subject Terms: Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2051-5960

Access URL: https://doaj.org/article/baac467a9e3b4fe08c219fe871aff898

Correction to: Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat

Authors: Lindsey N. Campion, Alan Mejia Maza, Rachita Yadav, Ellen B. Penney, Micaela G. Murcar, Kevin Correia, Tammy Gillis, Cara Fernandez-Cerado, M. Salvie Velasco-Andrada, G. Paul Legarda, Niecy G. Ganza-Bautista, J. Benedict B. Lagarde, Patrick J. Acuña, Trisha Multhaupt-Buell, Gabrielle Aldykiewicz, Melanie L. Supnet, Jan K. De Guzman, Criscely Go, Nutan Sharma, Edwin L. Munoz, Mark C. Ang, Cid Czarina E. Diesta, D. Cristopher Bragg, Laurie J. Ozelius, Vanessa C. Wheeler

Source: Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-1 (2022)

Subject Terms: Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2051-5960

Access URL: https://doaj.org/article/ef4d8509314d40a785b9044ba45ef7f7

Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes

Authors: Ella Dragileva, Audrey Hendricks, Allison Teed, Tammy Gillis, Edith T. Lopez, Errol C. Friedberg, Raju Kucherlapati, Winfried Edelmann, Kathryn L. Lunetta, Marcy E. MacDonald, Vanessa C. Wheeler

Source: Neurobiology of Disease, Vol 33, Iss 1, Pp 37-47 (2009)

Subject Terms: Huntington's disease, Trinucleotide, Instability, Repeat, Striatum, Repair, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996108002234; https://doaj.org/toc/1095-953X

Access URL: https://doaj.org/article/af291bf522e94f59b0fc514184565cec

Elevated brain 3-hydroxykynurenine and quinolinate levels in Huntington disease mice

Authors: Paolo Guidetti, Gillian P. Bates, Rona K. Graham, Michael R. Hayden, Blair R. Leavitt, Marcy E. MacDonald, Elizabeth J. Slow, Vanessa C. Wheeler, Ben Woodman, Robert Schwarcz

Source: Neurobiology of Disease, Vol 23, Iss 1, Pp 190-197 (2006)

Subject Terms: Excitotoxicity, Free radicals, Kynurenine monooxygenase, Kynurenine pathway, Microglia, Neurodegeneration, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996106000532; https://doaj.org/toc/1095-953X

Access URL: https://doaj.org/article/b993d28c31c845319dd537405eba5f0a

The HD Mutation Does Not Alter Neuronal Death in the Striatum of HdhQ92 Knock-in Mice after Mild Focal Ischemia

Authors: Shobu Namura, Lorenz Hirt, Vanessa C. Wheeler, Kim M. McGinnis, Paige Hilditch-Maguire, Michael A. Moskowitz, Marcy E. MacDonald, Francesca Persichetti

Source: Neurobiology of Disease, Vol 11, Iss 1, Pp 147-154 (2002)

Subject Terms: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996102905322; https://doaj.org/toc/1095-953X

Access URL: https://doaj.org/article/97f8d2bb0483434288d7eb34b5d0e5ce

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Base editing strategies to convert CAG to CAA diminish the disease-causing mutation in Huntington’s disease

Authors: Doo Eun Choi, Jun Wan Shin, Sophia Zeng, Eun Pyo Hong, Jae-Hyun Jang, Jacob M Loupe, Vanessa C Wheeler, Hannah E Stutzman, Ben Kleinstiver, Jong-Min Lee

Source: eLife, Vol 12 (2024)

Subject Terms: Huntington's disease, duplicated interruption, uninterrupted repeat, base editing, CAG-to-CAA conversion, CAG repeat instability, Medicine, Science, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://elifesciences.org/articles/89782; https://doaj.org/toc/2050-084X

Access URL: https://doaj.org/article/be3156c656d24edfa4a721019c3ab21e

CAG repeat expansion in the Huntington's disease gene shapes linear and circular RNAs biogenesis.

Authors: Dilara Ayyildiz, Guendalina Bergonzoni, Alan Monziani, Takshashila Tripathi, Jessica Döring, Emanuela Kerschbamer, Francesca Di Leva, Elia Pennati, Luisa Donini, Marina Kovalenko, Jacopo Zasso, Luciano Conti, Vanessa C Wheeler, Christoph Dieterich, Silvano Piazza, Erik Dassi, Marta Biagioli

Source: PLoS Genetics, Vol 19, Iss 10, p e1010988 (2023)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1010988&type=printable; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/87731a943eda4263b60cff414dc33cfe

Histone deacetylase knockouts modify transcription, CAG instability and nuclear pathology in Huntington disease mice

Authors: Marina Kovalenko, Serkan Erdin, Marissa A Andrew, Jason St Claire, Melissa Shaughnessey, Leroy Hubert, João Luís Neto, Alexei Stortchevoi, Daniel M Fass, Ricardo Mouro Pinto, Stephen J Haggarty, John H Wilson, Michael E Talkowski, Vanessa C Wheeler

Source: eLife, Vol 9 (2020)

Subject Terms: huntington's disease, repeat instability, histone deacatylase, chromatin, medium spiny neuron, Medicine, Science, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://elifesciences.org/articles/55911; https://doaj.org/toc/2050-084X

Access URL: https://doaj.org/article/7ec6f42abf9f427c8434769cf8737ee8

Transcriptional regulatory networks underlying gene expression changes in Huntington's disease

Authors: Seth A Ament, Jocelynn R Pearl, Jeffrey P Cantle, Robert M Bragg, Peter J Skene, Sydney R Coffey, Dani E Bergey, Vanessa C Wheeler, Marcy E MacDonald, Nitin S Baliga, Jim Rosinski, Leroy E Hood, Jeffrey B Carroll, Nathan D Price

Source: Molecular Systems Biology, Vol 14, Iss 3, Pp 1-16 (2018)

Subject Terms: Huntington's disease, SMAD3, transcription factor, transcriptional regulatory networks, Biology (General), QH301-705.5, Medicine (General), R5-920

File Description: electronic resource

Relation: https://doaj.org/toc/1744-4292

Access URL: https://doaj.org/article/37a0a3de07ca4d86ab89638ff4d313a8

Population-specific genetic modification of Huntington's disease in Venezuela.

Authors: Michael J Chao, Kyung-Hee Kim, Jun Wan Shin, Diane Lucente, Vanessa C Wheeler, Hong Li, Jared C Roach, Leroy Hood, Nancy S Wexler, Laura B Jardim, Peter Holmans, Lesley Jones, Michael Orth, Seung Kwak, Marcy E MacDonald, James F Gusella, Jong-Min Lee

Source: PLoS Genetics, Vol 14, Iss 5, p e1007274 (2018)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/5931f4866f45429eade3b1d4c42f0e25

HD CAGnome: a search tool for huntingtin CAG repeat length-correlated genes.

Authors: Ekaterina I Galkina, Aram Shin, Kathryn R Coser, Toshi Shioda, Isaac S Kohane, Ihn Sik Seong, Vanessa C Wheeler, James F Gusella, Marcy E Macdonald, Jong-Min Lee

Source: PLoS ONE, Vol 9, Iss 4, p e95556 (2014)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3994101?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/ebb7c71e610944a6b2b5bb048beda07c

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

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

Source: PLoS Genetics, Vol 9, Iss 10, p e1003930 (2013)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3814320?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/d07c6027fd15471d92356b349cb1ba4e

A broad phenotypic screen identifies novel phenotypes driven by a single mutant allele in Huntington's disease CAG knock-in mice.

Authors: Sabine M Hölter, Mary Stromberg, Marina Kovalenko, Lillian Garrett, Lisa Glasl, Edith Lopez, Jolene Guide, Alexander Götz, Wolfgang Hans, Lore Becker, Birgit Rathkolb, Jan Rozman, Anja Schrewed, Martin Klingenspor, Thomas Klopstock, Holger Schulz, Eckhard Wolf, Wolfgang Wursta, Tammy Gillis, Hiroko Wakimoto, Jonathan Seidman, Marcy E MacDonald, Susan Cotman, Valérie Gailus-Durner, Helmut Fuchs, Martin Hrabě de Angelis, Jong-Min Lee, Vanessa C Wheeler

Source: PLoS ONE, Vol 8, Iss 11, p e80923 (2013)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24278347/?tool=EBI; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/57b263b8d55c4fe881fd6b6ee0978b4a

Msh2 acts in medium-spiny striatal neurons as an enhancer of CAG instability and mutant huntingtin phenotypes in Huntington's disease knock-in mice.

Authors: Marina Kovalenko, Ella Dragileva, Jason St Claire, Tammy Gillis, Jolene R Guide, Jaclyn New, Hualing Dong, Raju Kucherlapati, Melanie H Kucherlapati, Michelle E Ehrlich, Jong-Min Lee, Vanessa C Wheeler

Source: PLoS ONE, Vol 7, Iss 9, p e44273 (2012)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3436885?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/b95c28e6031d4da1a6bfb2c12305f285

Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system.

Authors: John F Staropoli, Larissa Haliw, Sunita Biswas, Lillian Garrett, Sabine M Hölter, Lore Becker, Sergej Skosyrski, Patricia Da Silva-Buttkus, Julia Calzada-Wack, Frauke Neff, Birgit Rathkolb, Jan Rozman, Anja Schrewe, Thure Adler, Oliver Puk, Minxuan Sun, Jack Favor, Ildikó Racz, Raffi Bekeredjian, Dirk H Busch, Jochen Graw, Martin Klingenspor, Thomas Klopstock, Eckhard Wolf, Wolfgang Wurst, Andreas Zimmer, Edith Lopez, Hayat Harati, Eric Hill, Daniela S Krause, Jolene Guide, Ella Dragileva, Evan Gale, Vanessa C Wheeler, Rose-Mary Boustany, Diane E Brown, Sylvie Breton, Klaus Ruether, Valérie Gailus-Durner, Helmut Fuchs, Martin Hrabě de Angelis, Susan L Cotman

Source: PLoS ONE, Vol 7, Iss 6, p e38310 (2012)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3368842?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/1d1ada78800e44e893b4656b106c2943

Quantification of age-dependent somatic CAG repeat instability in Hdh CAG knock-in mice reveals different expansion dynamics in striatum and liver.

Authors: Jong-Min Lee, Ricardo Mouro Pinto, Tammy Gillis, Jason C St Claire, Vanessa C Wheeler

Source: PLoS ONE, Vol 6, Iss 8, p e23647 (2011)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21897851/?tool=EBI; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/46ff4df3823c4acc941be4d6f92d8094

Stoichiometry of base excision repair proteins correlates with increased somatic CAG instability in striatum over cerebellum in Huntington's disease transgenic mice.

Authors: Agathi-Vassiliki Goula, Brian R Berquist, David M Wilson, Vanessa C Wheeler, Yvon Trottier, Karine Merienne

Source: PLoS Genetics, Vol 5, Iss 12, p e1000749 (2009)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC2778875?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/8a28ce4b4c5143fd9aab888f433d8eb9