Search Results - "Margolis, Russell L."

RAN Translation in Huntington Disease by Bañez-Coronel, Monica, Ayhan, Fatma, Tarabochia, Alex D, Zu, Tao, Perez, Barbara A, Tusi, Solaleh Khoramian, Pletnikova, Olga, Borchelt, David R, Ross, Christopher A, Margolis, Russell L, Yachnis, Anthony T, Troncoso, Juan C, Ranum, Laura P W

“…Huntington disease (HD) is caused by a CAG ⋅ CTG expansion in the huntingtin (HTT) gene. While most research has focused on the HTT polyGln-expansion protein,…”
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Use of single guided Cas9 nickase to facilitate precise and efficient genome editing in human iPSCs by Li, Pan P., Margolis, Russell L.

“…Cas9 nucleases permit rapid and efficient generation of gene-edited cell lines. However, in typical protocols, mutations are intentionally introduced into the…”
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Synaptic dysregulation in a human iPS cell model of mental disorders by Wen, Zhexing, Nguyen, Ha Nam, Guo, Ziyuan, Lalli, Matthew A., Wang, Xinyuan, Su, Yijing, Kim, Nam-Shik, Yoon, Ki-Jun, Shin, Jaehoon, Zhang, Ce, Makri, Georgia, Nauen, David, Yu, Huimei, Guzman, Elmer, Chiang, Cheng-Hsuan, Yoritomo, Nadine, Kaibuchi, Kozo, Zou, Jizhong, Christian, Kimberly M., Cheng, Linzhao, Ross, Christopher A., Margolis, Russell L., Chen, Gong, Kosik, Kenneth S., Song, Hongjun, Ming, Guo-li

“…Generation and neural differentiation of induced pluripotent stem cells (iPS cells) from patients enables new ways to investigate the cellular pathophysiology…”
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Huntington disease: natural history, biomarkers and prospects for therapeutics by Ross, Christopher A., Aylward, Elizabeth H., Wild, Edward J., Langbehn, Douglas R., Long, Jeffrey D., Warner, John H., Scahill, Rachael I., Leavitt, Blair R., Stout, Julie C., Paulsen, Jane S., Reilmann, Ralf, Unschuld, Paul G., Wexler, Alice, Margolis, Russell L., Tabrizi, Sarah J.

“…Key Points No disease-modifying treatments are currently available for Huntington disease (HD), but clinical trials of potential compounds are imminent;…”
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An Antisense CAG Repeat Transcript at JPH3 Locus Mediates Expanded Polyglutamine Protein Toxicity in Huntington's Disease-like 2 Mice by Wilburn, Brian, Rudnicki, Dobrila D., Zhao, Jing, Weitz, Tara Murphy, Cheng, Yin, Gu, Xiaofeng, Greiner, Erin, Park, Chang Sin, Wang, Nan, Sopher, Bryce L., La Spada, Albert R., Osmand, Alex, Margolis, Russell L., Sun, Yi E., Yang, X. William

“…Huntington's disease-like-2 (HDL2) is a phenocopy of Huntington's disease caused by CTG/CAG repeat expansion at the Junctophilin-3 (JPH3) locus. The mechanisms…”
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Astrocytes generated from patient induced pluripotent stem cells recapitulate features of Huntington's disease patient cells by Juopperi, Tarja A, Kim, Woon Ryoung, Chiang, Cheng-Hsuan, Yu, Huimei, Margolis, Russell L, Ross, Christopher A, Ming, Guo-li, Song, Hongjun

“…Huntington's Disease (HD) is a devastating neurodegenerative disorder that clinically manifests as motor dysfunction, cognitive impairment and psychiatric…”
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Pharmacological rescue in patient iPSC and mouse models with a rare DISC1 mutation by Kim, Nam-Shik, Wen, Zhexing, Liu, Jing, Zhou, Ying, Guo, Ziyuan, Xu, Chongchong, Lin, Yu-Ting, Yoon, Ki-Jun, Park, Junhyun, Cho, Michelle, Kim, Minji, Wang, Xinyuan, Yu, Huimei, Sakamuru, Srilatha, Christian, Kimberly M., Hsu, Kuei-sen, Xia, Menghang, Li, Weidong, Ross, Christopher A., Margolis, Russell L., Lu, Xin-Yun, Song, Hongjun, Ming, Guo-li

“…We previously identified a causal link between a rare patient mutation in DISC1 (disrupted-in-schizophrenia 1) and synaptic deficits in cortical neurons…”
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Generation of a human induced pluripotent stem cell line JHUi004-A with heterozygous mutation for spinocerebellar ataxia type 12 using genome editing by Liu, Hans B., Dong, Tao, Deng, Leon, Zhou, Chengqian, Tang, Fan, Margolis, Russell L., Li, Pan P.

“…Spinocerebellar ataxia type 12 (SCA12) is caused by a CAG expansion mutation in PPP2R2B, a gene encoding brain-specific regulatory units of protein phosphatase…”
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Age, CAG repeat length, and clinical progression in Huntington's disease by Rosenblatt, Adam, Kumar, Brahma V., Mo, Alisa, Welsh, Claire S., Margolis, Russell L., Ross, Christopher A.

“…The objective of this study was to further explore the effect of CAG repeat length on the rate of clinical progression in patients with Huntington's disease…”
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Prevalence of Psychotic Symptoms in a Community-Based Parkinson Disease Sample by Mack, Joel, M.D, Rabins, Peter, M.D., M.P.H, Anderson, Karen, M.D, Goldstein, Susanne, M.D, Grill, Stephen, M.D., Ph.D, Hirsch, Elaina S., M.S, Lehmann, Susan, M.D, Little, John T., M.D, Margolis, Russell L., M.D, Palanci, Justin, B.S, Pontone, Gregory, M.D, Weiss, Howard, M.D, Williams, James R., Ph.D, Marsh, Laura, M.D

“…Objectives To determine the prevalence of psychotic phenomena, including minor symptoms, in a Parkinson disease (PD) sample and compare the clinical correlates…”
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A high-throughput screening to identify small molecules that suppress huntingtin promoter activity or activate huntingtin-antisense promoter activity by Khaled, Houda G., Feng, Hongxuan, Hu, Xin, Sun, Xin, Zheng, Wang, Li, Pan P., Rudnicki, Dobrila D., Ye, Wenjuan, Chen, Yu-Chi, Southall, Noel, Marugan, Juan, Ross, Christopher A., Ferrer, Marc, Henderson, Mark J., Margolis, Russell L.

“…Huntington’s disease (HD) is a neurodegenerative disorder caused by a CAG repeat expansion in exon 1 of huntingtin ( HTT ). While there are currently no…”
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Generation of a human induced pluripotent stem cell line JHUi003-A with homozygous mutation for spinocerebellar ataxia type 12 using genome editing by Feng, Hongxuan, Li, Qinshan, Margolis, Russell L., Li, Pan P.

“…Spinocerebellar ataxia type 12 (SCA12) is caused by a CAG expansion mutation in PPP2R2B, a gene encoding a brain-specific regulatory unit of protein…”
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Loss of junctophilin-3 contributes to huntington disease-like 2 pathogenesis by Seixas, Ana I., Holmes, Susan E., Takeshima, Hiroshi, Pavlovich, Amira, Sachs, Nancy, Pruitt, Jennifer L., Silveira, Isabel, Ross, Christopher A., Margolis, Russell L., Rudnicki, Dobrila D.

“…Objective: Huntington disease‐like 2 (HDL2) is a progressive, late onset autosomal dominant neurodegenerative disorder, with remarkable similarities to…”
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Phosphorodiamidate morpholino oligomers suppress mutant huntingtin expression and attenuate neurotoxicity by Sun, Xin, Marque, Leonard O, Cordner, Zachary, Pruitt, Jennifer L, Bhat, Manik, Li, Pan P, Kannan, Geetha, Ladenheim, Ellen E, Moran, Timothy H, Margolis, Russell L, Rudnicki, Dobrila D

“…Huntington's disease (HD) is a neurodegenerative disorder caused by a CAG trinucleotide repeat expansion in the huntingtin (HTT) gene. Disease pathogenesis…”
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Author Correction: Pharmacological rescue in patient iPSC and mouse models with a rare DISC1 mutation by Kim, Nam-Shik, Wen, Zhexing, Liu, Jing, Zhou, Ying, Guo, Ziyuan, Xu, Chongchong, Lin, Yu-Ting, Yoon, Ki-Jun, Park, Junhyun, Cho, Michelle, Kim, Minji, Wang, Xinyuan, Yu, Huimei, Sakamuru, Srilatha, Christian, Kimberly M., Hsu, Kuei-sen, Xia, Menghang, Li, Weidong, Ross, Christopher A., Margolis, Russell L., Lu, Xin-Yun, Song, Hongjun, Ming, Guo-li

“…https://doi.org/10.1038/s41467-021-23263-0…”
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Analysis of differential gene expression mediated by clozapine in human postmortem brains by Lee, Brian J, Marchionni, Luigi, Andrews, Carrie E, Norris, Alexis L, Nucifora, Leslie G, Wu, Yeewen Candace, Wright, Robert A, Pevsner, Jonathan, Ross, Christopher A, Margolis, Russell L, Sawa, Akira, Nucifora, Frederick C

“…Abstract Clozapine is the only medication indicated for treating refractory schizophrenia, due to its superior efficacy among all antipsychotic agents, but its…”
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A Systematic Review of the Huntington Disease-Like 2 Phenotype by Anderson, David G, Walker, Ruth H, Connor, Myles, Carr, Jonathan, Margolis, Russell L, Krause, Amanda

“…Huntington Disease-like 2 (HDL2) is a neurodegenerative disorder similar to Huntington Disease (HD) in its clinical phenotype, genetic characteristics,…”
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Differential Changes in Functional Connectivity of Striatum-Prefrontal and Striatum-Motor Circuits in Premanifest Huntington's Disease by Kronenbuerger, Martin, Hua, Jun, Bang, Jee Y A, Ultz, Kia E, Miao, Xinyuan, Zhang, Xiaoyu, Pekar, James J, van Zijl, Peter C M, Duan, Wenzhen, Margolis, Russell L, Ross, Christopher A

“…Huntington's disease (HD) is a progressive neurodegenerative disorder. The striatum is one of the first brain regions that show detectable atrophy in HD…”
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Common SNP-Based Haplotype Analysis of the 4p16.3 Huntington Disease Gene Region by Lee, Jong-Min, Gillis, Tammy, Mysore, Jayalakshmi Srinidhi, Ramos, Eliana Marisa, Myers, Richard H., Hayden, Michael R., Morrison, Patrick J., Nance, Martha, Ross, Christopher A., Margolis, Russell L., Squitieri, Ferdinando, Griguoli, Annamaria, Di Donato, Stefano, Gomez-Tortosa, Estrella, Ayuso, Carmen, Suchowersky, Oksana, Trent, Ronald J., McCusker, Elizabeth, Novelletto, Andrea, Frontali, Marina, Jones, Randi, Ashizawa, Tetsuo, Frank, Samuel, Saint-Hilaire, Marie-Helene, Hersch, Steven M., Rosas, Herminia D., Lucente, Diane, Harrison, Madaline B., Zanko, Andrea, Abramson, Ruth K., Marder, Karen, Sequeiros, Jorge, MacDonald, Marcy E., Gusella, James F.

“…Age at the onset of motor symptoms in Huntington disease (HD) is determined largely by the length of a CAG repeat expansion in HTT but is also influenced by…”
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Pharmacologic Treatment of Anxiety Disorders in Parkinson Disease by Pontone, Gregory M., M.D, Williams, James R., Ph.D, Anderson, Karen E., M.D, Chase, Gary, Ph.D, Goldstein, Susanne R., M.D, Grill, Stephen, M.D., Ph.D, Hirsch, Elaina S., M.S, Lehmann, Susan, M.D, Little, John T., M.D, Margolis, Russell L., M.D, Palanci, Justin, B.S, Rabins, Peter V., M.D., M.P.H, Weiss, Howard D., M.D, Marsh, Laura, M.D

“…Objective Neither best practices nor an evidence base for the pharmacologic treatment of anxiety in Parkinson disease (PD) has been established. This study…”
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