Search Results - "MACDONALD, Marcy E"

Integrated Systems Approach Identifies Genetic Nodes and Networks in Late-Onset Alzheimer’s Disease by Zhang, Bin, Gaiteri, Chris, Bodea, Liviu-Gabriel, Wang, Zhi, McElwee, Joshua, Podtelezhnikov, Alexei A., Zhang, Chunsheng, Xie, Tao, Tran, Linh, Dobrin, Radu, Fluder, Eugene, Clurman, Bruce, Melquist, Stacey, Narayanan, Manikandan, Suver, Christine, Shah, Hardik, Mahajan, Milind, Gillis, Tammy, Mysore, Jayalakshmi, MacDonald, Marcy E., Lamb, John R., Bennett, David A., Molony, Cliona, Stone, David J., Gudnason, Vilmundur, Myers, Amanda J., Schadt, Eric E., Neumann, Harald, Zhu, Jun, Emilsson, Valur

“…The genetics of complex disease produce alterations in the molecular interactions of cellular pathways whose collective effect may become clear through the…”
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The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease by Keum, Jae Whan, Shin, Aram, Gillis, Tammy, Mysore, Jayalakshmi Srinidhi, Abu Elneel, Kawther, Lucente, Diane, Hadzi, Tiffany, Holmans, Peter, Jones, Lesley, Orth, Michael, Kwak, Seung, MacDonald, Marcy E., Gusella, James F., Lee, Jong-Min

“…Huntington disease (HD) is caused by an expanded HTT CAG repeat that leads in a length-dependent, completely dominant manner to onset of a characteristic…”
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Genetic modifiers of Huntington's disease by Gusella, James F., MacDonald, Marcy E., Lee, Jong-Min

“…Huntington's disease (HD) is a devastating neurodegenerative disorder that directly affects more than 1 in 10,000 persons in Western societies but, as a family…”
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RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression by Labadorf, Adam, Hoss, Andrew G, Lagomarsino, Valentina, Latourelle, Jeanne C, Hadzi, Tiffany C, Bregu, Joli, MacDonald, Marcy E, Gusella, James F, Chen, Jiang-Fan, Akbarian, Schahram, Weng, Zhiping, Myers, Richard H

“…Huntington's Disease (HD) is a devastating neurodegenerative disorder that is caused by an expanded CAG trinucleotide repeat in the Huntingtin (HTT) gene…”
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A modifier of Huntington's disease onset at the MLH1 locus by Lee, Jong-Min, Chao, Michael J, Harold, Denise, Abu Elneel, Kawther, Gillis, Tammy, Holmans, Peter, Jones, Lesley, Orth, Michael, Myers, Richard H, Kwak, Seung, Wheeler, Vanessa C, MacDonald, Marcy E, Gusella, James F

“…Huntington's disease (HD) is a dominantly inherited neurodegenerative disease caused by an expanded CAG repeat in HTT. Many clinical characteristics of HD such…”
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Disruption of Neurexin 1 Associated with Autism Spectrum Disorder by Kim, Hyung-Goo, Kishikawa, Shotaro, Higgins, Anne W., Seong, Ihn-Sik, Donovan, Diana J., Shen, Yiping, Lally, Eric, Weiss, Lauren A., Najm, Juliane, Kutsche, Kerstin, Descartes, Maria, Holt, Lynn, Braddock, Stephen, Troxell, Robin, Kaplan, Lee, Volkmar, Fred, Klin, Ami, Tsatsanis, Katherine, Harris, David J., Noens, Ilse, Pauls, David L., Daly, Mark J., MacDonald, Marcy E., Morton, Cynthia C., Quade, Bradley J., Gusella, James F.

“…Autism is a neurodevelopmental disorder of complex etiology in which genetic factors play a major role. We have implicated the neurexin 1 ( NRXN1) gene in two…”
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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 by 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

“…Abstract Recent genome-wide association studies of age-at-onset in Huntington’s disease (HD) point to distinct modes of potential disease modification:…”
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Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration by Chiang, Colby, Jacobsen, Jessie C, Ernst, Carl, Hanscom, Carrie, Heilbut, Adrian, Blumenthal, Ian, Mills, Ryan E, Kirby, Andrew, Lindgren, Amelia M, Rudiger, Skye R, McLaughlan, Clive J, Bawden, C Simon, Reid, Suzanne J, Faull, Richard L M, Snell, Russell G, Hall, Ira M, Shen, Yiping, Ohsumi, Toshiro K, Borowsky, Mark L, Daly, Mark J, Lee, Charles, Morton, Cynthia C, MacDonald, Marcy E, Gusella, James F, Talkowski, Michael E

“…Michael Talkowski and colleagues examine karyotypically balanced genomic rearrangement landscapes in the germline at single-nucleotide resolution. They find…”
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MicroRNAs located in the Hox gene clusters are implicated in huntington's disease pathogenesis by Hoss, Andrew G, Kartha, Vinay K, Dong, Xianjun, Latourelle, Jeanne C, Dumitriu, Alexandra, Hadzi, Tiffany C, Macdonald, Marcy E, Gusella, James F, Akbarian, Schahram, Chen, Jiang-Fan, Weng, Zhiping, Myers, Richard H

“…Transcriptional dysregulation has long been recognized as central to the pathogenesis of Huntington's disease (HD). MicroRNAs (miRNAs) represent a major system…”
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Splice modulators target PMS1 to reduce somatic expansion of the Huntington’s disease-associated CAG repeat by 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.

“…Huntington’s disease (HD) is a dominant neurological disorder caused by an expanded HTT exon 1 CAG repeat that lengthens huntingtin’s polyglutamine tract…”
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Population-specific genetic modification of Huntington's disease in Venezuela by Chao, Michael J, Kim, Kyung-Hee, Shin, Jun Wan, Lucente, Diane, Wheeler, Vanessa C, Li, Hong, Roach, Jared C, Hood, Leroy, Wexler, Nancy S, Jardim, Laura B, Holmans, Peter, Jones, Lesley, Orth, Michael, Kwak, Seung, MacDonald, Marcy E, Gusella, James F, Lee, Jong-Min

“…Modifiers of Mendelian disorders can provide insights into disease mechanisms and guide therapeutic strategies. A recent genome-wide association (GWA) study…”
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Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase by Long, Jeffrey D., Lee, Jong-Min, Aylward, Elizabeth H., Gillis, Tammy, Mysore, Jayalakshmi Srinidhi, Abu Elneel, Kawther, Chao, Michael J., Paulsen, Jane S., MacDonald, Marcy E., Gusella, James F.

“…Age at onset of Huntington disease, an inherited neurodegenerative disorder, is influenced by the size of the disease-causing CAG trinucleotide repeat…”
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Rrs1 Is Involved in Endoplasmic Reticulum Stress Response in Huntington Disease by Carnemolla, Alisia, Fossale, Elisa, Agostoni, Elena, Michelazzi, Silvia, Calligaris, Raffaella, De Maso, Luca, Del Sal, Giannino, MacDonald, Marcy E., Persichetti, Francesca

“…The induction of Rrs1 expression is one of the earliest events detected in a presymptomatic knock-in mouse model of Huntington disease (HD). Rrs1 up-regulation…”
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Transcriptional regulatory networks underlying gene expression changes in Huntington's disease by Ament, Seth A, Pearl, Jocelynn R, Cantle, Jeffrey P, Bragg, Robert M, Skene, Peter J, Coffey, Sydney R, Bergey, Dani E, Wheeler, Vanessa C, MacDonald, Marcy E, Baliga, Nitin S, Rosinski, Jim, Hood, Leroy E, Carroll, Jeffrey B, Price, Nathan D

“…Transcriptional changes occur presymptomatically and throughout Huntington's disease (HD), motivating the study of transcriptional regulatory networks (TRNs)…”
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A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System by Staropoli, John F., Karaa, Amel, Lim, Elaine T., Kirby, Andrew, Elbalalesy, Naser, Romansky, Stephen G., Leydiker, Karen B., Coppel, Scott H., Barone, Rosemary, Xin, Winnie, MacDonald, Marcy E., Abdenur, Jose E., Daly, Mark J., Sims, Katherine B., Cotman, Susan L.

“…Neuronal ceroid lipofuscinosis (NCL) is a genetically heterogeneous group of lysosomal diseases that collectively compose the most common Mendelian form of…”
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Huntingtin Controls Neurotrophic Support and Survival of Neurons by Enhancing BDNF Vesicular Transport along Microtubules by Gauthier, Laurent R, Charrin, Bénédicte C, Borrell-Pagès, Maria, Dompierre, Jim P, Rangone, Hélène, Cordelières, Fabrice P, De Mey, Jan, MacDonald, Marcy E, Leßmann, Volkmar, Humbert, Sandrine, Saudou, Frédéric

“…Polyglutamine expansion (polyQ) in the protein huntingtin is pathogenic and responsible for the neuronal toxicity associated with Huntington's disease (HD)…”
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Autophagy Is Disrupted in a Knock-in Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis by Cao, Yi, Espinola, Janice A., Fossale, Elisa, Massey, Ashish C., Cuervo, Ana Maria, MacDonald, Marcy E., Cotman, Susan L.

“…Juvenile neuronal ceroid lipofuscinosis is caused by mutation of a novel, endosomal/lysosomal membrane protein encoded by CLN3. The observation that the…”
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Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes by Dragileva, Ella, Hendricks, Audrey, Teed, Allison, Gillis, Tammy, Lopez, Edith T, Friedberg, Errol C, Kucherlapati, Raju, Edelmann, Winfried, Lunetta, Kathryn L, MacDonald, Marcy E, Wheeler, Vanessa C

“…Abstract Modifying the length of the Huntington's disease (HD) CAG repeat, the major determinant of age of disease onset, is an attractive therapeutic…”
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Huntingtin facilitates polycomb repressive complex 2 by Seong, Ihn Sik, Woda, Juliana M., Song, Ji-Joon, Lloret, Alejandro, Abeyrathne, Priyanka D., Woo, Caroline J., Gregory, Gillian, Lee, Jong-Min, Wheeler, Vanessa C., Walz, Thomas, Kingston, Robert E., Gusella, James F., Conlon, Ronald A., MacDonald, Marcy E.

“…Huntington's disease (HD) is caused by expansion of the polymorphic polyglutamine segment in the huntingtin protein. Full-length huntingtin is thought to be a…”
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Functionally defective germline variants of sialic acid acetylesterase in autoimmunity by Pillai, Shiv, Surolia, Ira, Pirnie, Stephan P, Chellappa, Vasant, Taylor, Kendra N, Cariappa, Annaiah, Moya, Jesse, Liu, Haoyuan, Bell, Daphne W, Driscoll, David R, Diederichs, Sven, Haider, Khaleda, Netravali, Ilka, Le, Sheila, Elia, Roberto, Dow, Ethan, Lee, Annette, Freudenberg, Jan, De Jager, Philip L, Chretien, Yves, Varki, Ajit, MacDonald, Marcy E, Gillis, Tammy, Behrens, Timothy W, Bloch, Donald, Collier, Deborah, Korzenik, Joshua, Podolsky, Daniel K, Hafler, David, Murali, Mandakolathur, Sands, Bruce, Stone, John H, Gregersen, Peter K

“…Sialic acid acetylesterase (SIAE) is an enzyme that negatively regulates B lymphocyte antigen receptor signalling and is required for the maintenance of…”
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