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2. Triplication of the interferon receptor locus contributes to hallmarks of Down syndrome in a mouse model

Author

Waugh, Katherine A., Minter, Ross, Baxter, Jessica, Chi, Congwu, Galbraith, Matthew D., Tuttle, Kathryn D., Eduthan, Neetha P., Kinning, Kohl T., Andrysik, Zdenek, Araya, Paula, Dougherty, Hannah, Dunn, Lauren N., Ludwig, Michael, Schade, Kyndal A., Tracy, Dayna, Smith, Keith P., Granrath, Ross E., Busquet, Nicolas, Khanal, Santosh, Anderson, Ryan D., Cox, Liza L., Estrada, Belinda Enriquez, Rachubinski, Angela L., Lyford, Hannah R., Britton, Eleanor C., Fantauzzo, Katherine A., Orlicky, David J., Matsuda, Jennifer L., Song, Kunhua, Cox, Timothy C., Sullivan, Kelly D., and Espinosa, Joaquin M.

Published
2023
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6. SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research

Author

Consortium, The SPARK, Feliciano, Pamela, Daniels, Amy M, Snyder, LeeAnne Green, Beaumont, Amy, Camba, Alexies, Esler, Amy, Gulsrud, Amanda G, Mason, Andrew, Gutierrez, Anibal, Nicholson, Amy, Paolicelli, Anna Marie, McKenzie, Alexander P, Rachubinski, Angela L, Stephens, Alexandra N, Simon, Andrea R, Stedman, Amy, Shocklee, Amanda D, Swanson, Amy, Finucane, Brenda, Hilscher, Brittani A, Hauf, Brenda, O’Roak, Brian J, McKenna, Brooke, Robertson, Beverly E, Rodriguez, Barbara, Vernoia, Brianna M, Van Metre, Bonnie, Bradley, Catherine, Cohen, Cheryl, Erickson, Craig A, Harkins, Christina, Hayes, Caitlin, Lord, Catherine, Martin, Christa Lese, Ortiz, Crissy, Ochoa-Lubinoff, Cesar, Peura, Christine, Rice, Catherine E, Rosenberg, Cordelia R, Smith, Christopher J, Thomas, Carrie, Taylor, Cora M, White, Loran Casey, Walston, Corrie H, Amaral, David G, Coury, Daniel Lee, Sarver, Dustin E, Istephanous, Dalia, Li, Deana, Nugyen, Dzung Cong, Fox, Emily A, Butter, Eric M, Berry-Kravis, Elizabeth, Courchesne, Eric, Fombonne, Eric J, Hofammann, Eugenia, Lamarche, Elena, Wodka, Ericka L, Matthews, Emily T, O’Connor, Eirene, Palen, Emily, Miller, Fiona, Dichter, Gabriel S, Marzano, Gabriela, Stein, Gail, Hutter, Hanna, Kaplan, Hannah E, Li, Hai, Lechniak, Holly, Schneider, Hoa Lam, Zaydens, Hana, Arriaga, Ivette, Gerdts, Jennifer A, Cubells, Joseph F, Cordova, Jeanette M, Gunderson, Jaclyn, Lillard, Joseph, Manoharan, Julie, McCracken, James T, Michaelson, Jacob J, Neely, Jason, Orobio, Jessica, Pandey, Juhi, Piven, Joseph, Scherr, Jessica, Sutcliffe, James S, Tjernagel, Jennifer, Wallace, Jermel, Callahan, Kristen, Dent, Katherine, Schweers, Kathryn A, Hamer, Kira E, Law, J Kiely, Lowe, Kathryn, O’Brien, Kaela, Smith, Kaitlin, Pawlowski, Katherine G, Pierce, Karen L, and Roeder, Katherine

Subjects
Autism, Pediatric, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Mental Health, Mental health, Autism Spectrum Disorder, Biomedical Research, Cohort Studies, Gene-Environment Interaction, Genetic Predisposition to Disease, Humans, Patient Selection, United States, SPARK Consortium. Electronic address: pfeliciano@simonsfoundation.org, SPARK Consortium, Neurosciences, Psychology, Cognitive Sciences, Neurology & Neurosurgery
Abstract

The Simons Foundation Autism Research Initiative (SFARI) has launched SPARKForAutism.org, a dynamic platform that is engaging thousands of individuals with autism spectrum disorder (ASD) and connecting them to researchers. By making all data accessible, SPARK seeks to increase our understanding of ASD and accelerate new supports and treatments for ASD.

Published
2018

8. Jak Inhibition in Down Syndrome Regression Disorder

Author

Rachubinski, Angela L., primary, Patel, Lina R., additional, Sannar, Elise M., additional, Kammeyer, Ryan M., additional, Sanders, Jessica, additional, Enriquez-Estrada, Belinda A., additional, Worek, Kayleigh R., additional, Fidler, Deborah J., additional, Santoro, Jonathan Douglas, additional, and Espinosa, Joaquin M., additional

Published
2024
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11. Neuroimaging abnormalities associated with immunotherapy responsiveness in Down syndrome regression disorder.

Author

Santoro, Jonathan D., Khoshnood, Mellad M., Jafarpour, Saba, Nguyen, Lina, Boyd, Natalie K., Vogel, Benjamin N., Kammeyer, Ryan, Patel, Lina, Manning, Melanie A., Rachubinski, Angela L., Filipink, Robyn A., Baumer, Nicole T., Santoro, Stephanie L., Franklin, Catherine, Tamrazi, Benita, Yeom, Kristen W., Worley, Gordon, Espinosa, Joaquin M., and Rafii, Michael S.

Subjects
DOWN syndrome, ELECTROCONVULSIVE therapy, HUMAN abnormalities, BRAIN imaging, IMMUNOTHERAPY
Abstract

Objective: To determine the prevalence of neuroimaging abnormalities in individuals with Down syndrome regression disorder (DSRD) and evaluate if neuroimaging abnormalities were predictive of therapeutic responses. Methods: A multicenter, retrospective, case–control study which reviewed neuroimaging studies of individuals with DSRD and compared them to a control cohort of individuals with Down syndrome (DS) alone was performed. Individuals aged 10–30 years and meeting international consensus criteria for DSRD were included. The presence of T1, T2/FLAIR, and SWI signal abnormalities was reviewed. Response rates to various therapies, including immunotherapy, were evaluated in the presence of neuroimaging abnormalities. Results: In total, 74 individuals (35%) had either T2/FLAIR and/or SWI signal abnormality compared to 14 individuals (12%) without DSRD (p < 0.001, 95%CI: 2.18–7.63). T2/FLAIR signal abnormalities were not appreciated more frequently in individuals with DSRD (14%, 30/210) than in the control cohort (9%, 11/119) (p = 0.18, OR: 1.63, 95%CI: 0.79–3.40). SWI signal abnormalities were appreciated at a higher frequency in individuals with DSRD (24%, 51/210) compared to the control cohort (4%, 5/119) (p < 0.001, OR: 7.31, 95%CI: 2.83–18.90). T2/FLAIR signal abnormalities were localized to the frontal (40%, 12/30) and parietal lobes (37%, 11/30). SWI signal abnormalities were predominantly in the bilateral basal ganglia (94%, 49/52). Individuals with DSRD and the presence of T2/FLAIR and/or SWI signal abnormalities were much more likely to respond to immunotherapy (p < 0.001, OR: 8.42. 95%CI: 3.78–18.76) and less likely to respond to benzodiazepines (p = 0.01, OR: 0.45, 95%CI: 0.25–0.83), antipsychotics (p < 0.001, OR: 0.28, 95%CI: 0.11–0.55), or electroconvulsive therapy (p < 0.001, OR: 0.12; 95%CI: 0.02–0.78) compared to individuals without these neuroimaging abnormalities. Interpretation: This study indicates that in individuals diagnosed with DSRD, T2/FLAIR, and SWI signal abnormalities are more common than previously thought and predict response to immunotherapy. [ABSTRACT FROM AUTHOR]

Published
2024
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13. Multidimensional definition of the interferonopathy of Down syndrome and its response to JAK inhibition

Author

Galbraith, Matthew D., primary, Rachubinski, Angela L., additional, Smith, Keith P., additional, Araya, Paula, additional, Waugh, Katherine A., additional, Enriquez-Estrada, Belinda, additional, Worek, Kayleigh, additional, Granrath, Ross E., additional, Kinning, Kohl T., additional, Paul Eduthan, Neetha, additional, Ludwig, Michael P., additional, Hsieh, Elena W. Y., additional, Sullivan, Kelly D., additional, and Espinosa, Joaquin M., additional

Published
2023
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14. Trisomy 21 activates the kynurenine pathway via increased dosage of interferon receptors

Author

Powers, Rani K., Culp-Hill, Rachel, Ludwig, Michael P., Smith, Keith P., Waugh, Katherine A., Minter, Ross, Tuttle, Kathryn D., Lewis, Hannah C., Rachubinski, Angela L., Granrath, Ross E., Carmona-Iragui, María, Wilkerson, Rebecca B., Kahn, Darcy E., Joshi, Molishree, Lleó, Alberto, Blesa, Rafael, Fortea, Juan, D’Alessandro, Angelo, Costello, James C., Sullivan, Kelly D., and Espinosa, Joaquin M.

Published
2019
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15. Multi-Omics Assessment of Genetic Risk for Celiac Disease in Down Syndrome

Author

Stahl, Marisa Gallant, primary, Shaw, Jessica R, additional, Eduthan, Neetha Paul, additional, Rachubinski, Angela L, additional, Smith, Keith P, additional, Estrada, Belinda Enriquez, additional, Galbraith, Matthew D, additional, Sokol, Ronald J, additional, Chavan, Sameer, additional, Leaton, Laura Ann, additional, Kichula, Katherine M, additional, Norman, Paul J, additional, Norris, Jill M, additional, Liu, Edwin, additional, and Espinosa, Joaquin M, additional

Published
2022
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19. Interferon receptor gene dosage determines diverse hallmarks of Down syndrome

Author

Waugh, Katherine A., primary, Minter, Ross, additional, Baxter, Jessica, additional, Chi, Congwu, additional, Tuttle, Kathryn D., additional, Eduthan, Neetha P., additional, Galbraith, Matthew D., additional, Kinning, Kohl T., additional, Andrysik, Zdenek, additional, Araya, Paula, additional, Dougherty, Hannah, additional, Dunn, Lauren N., additional, Ludwig, Michael, additional, Schade, Kyndal A., additional, Tracy, Dayna, additional, Smith, Keith P., additional, Granrath, Ross E., additional, Busquet, Nicolas, additional, Khanal, Santosh, additional, Anderson, Ryan D., additional, Cox, Liza L., additional, Estrada, Belinda Enriquez, additional, Rachubinski, Angela L., additional, Lyford, Hannah R., additional, Britton, Eleanor C., additional, Orlicky, David J., additional, Matsuda, Jennifer L., additional, Song, Kunhua, additional, Cox, Timothy C., additional, Sullivan, Kelly D., additional, and Espinosa, Joaquin M., additional

Published
2022
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23. Beliefs in vaccine as causes of autism among SPARK cohort caregivers

Author

Fombonne, Eric, primary, Goin-Kochel, Robin P., additional, O'Roak, Brian J., additional, Abbeduto, Leonard, additional, Aberbach, Gabriella, additional, Acampado, John, additional, Ace, Andrea J., additional, Albright, Charles, additional, Alessandri, Michael, additional, Amaral, David G., additional, Amatya, Alpha, additional, Anglo, Claudine, additional, Annett, Robert D., additional, Arriaga, Ivette, additional, Ashley, Raven, additional, Astrovskaya, Irina, additional, Baalman, Kelly, additional, Baer, Melissa, additional, Bahl, Ethan, additional, Balasubramanian, Adithya, additional, Baraghoshi, Gabrielle, additional, Bardett, Nicole, additional, Barnard, Rebecca A., additional, Bashar, Asif, additional, Beaudet, Arthur, additional, Beckwith, Malia, additional, Beeson, Landon, additional, Bentley, Dawn, additional, Bernier, Raphael A., additional, Berry-Kravis, Elizabeth, additional, Boland, Sarah, additional, Booker, Stephanie, additional, Bradley, Catherine, additional, Brewster, Stephanie J., additional, Brooks, Elizabeth, additional, Brown, Melissa, additional, Brueggeman, Leo, additional, Butler, Martin E., additional, Butter, Eric M., additional, Callahan, Kristen, additional, Camba, Alexies, additional, Carbone, Paul, additional, Carpenter, Laura, additional, Carpenter, Sarah, additional, Carriero, Nicholas, additional, Cartner, Lindsey A., additional, Casten, Lucas, additional, Chatha, Ahmad S., additional, Chin, Wubin, additional, Chintalapalli, Sharmista, additional, Cho, Daniel, additional, Chung, Wendy K., additional, Clark, Renee D., additional, Cohen, Cheryl, additional, Coleman, Kendra, additional, Columbi, Costanza, additional, Coppola, Leigh, additional, Courchesne, Eric, additional, Cubells, Joseph F., additional, Hannah Currin, Mary, additional, Daniels, Amy M., additional, David, Giancarla, additional, DeMarco, Lindsey, additional, Dennis, Megan Y., additional, Dent, Kate, additional, Dichter, Gabriel S., additional, Ding, Yan, additional, Dinh, Huyen, additional, Doan, Ryan, additional, Doddapaneni, HarshaVardhan, additional, Eichler, Evan E., additional, Eldred, Sara, additional, Eng, Christine, additional, Erickson, Craig A., additional, Esler, Amy, additional, Fatemi, Ali, additional, Feliciano, Pamela, additional, Fischer, Gregory, additional, Fish, Angela, additional, Fisk, Ian, additional, Fombonne, Eric J., additional, Foster, Margaret, additional, Fox, Emily A., additional, Francis, Sunday, additional, Friedman, Sandra L., additional, Ganesan, Swami, additional, Garrett, Michael, additional, Gazestani, Vahid, additional, Geisheker, Madeleine R., additional, Gerdts, Jennifer A., additional, Geschwind, Daniel H., additional, Ghaziuddin, Mohammad, additional, Gibbs, Richard A., additional, Gonzalez, Natalia, additional, Goudreau, Lindsey, additional, Griswold, Anthony J., additional, Grosvenor, Luke P., additional, Gruber, Angela J., additional, Gulsrud, Amanda C., additional, Gunderson, Jaclyn, additional, Gunter, Chris, additional, Gupta, Abha, additional, Gutierrez, Anibal, additional, Hale, Melissa N., additional, Haley, Monica, additional, Hall, Jacob B., additional, Hamer, Kira E., additional, Han, Bing, additional, Hanna, Nathan, additional, Hardan, Antonio, additional, Harkins, Christina, additional, Harrington, Gloria, additional, Harris, Jill, additional, Harris, Nina, additional, Hauf, Brenda, additional, Hayes, Caitlin, additional, Heerwagen, Kathryn, additional, Hepburn, Susan L., additional, Herbert, Lynette M., additional, Heyman, Michelle, additional, Higgins, Lorrin, additional, Hilscher, Brittani A., additional, Hofammann, Eugenia, additional, Hojlo, Margaret, additional, Horner, Susannah, additional, Hsieh, Alexander, additional, Hu, Jianhong, additional, Huang-Storms, Lark Y., additional, Hunter, Samantha, additional, Hutter, Hanna, additional, Istephanous, Dalia, additional, Jacob, Suma, additional, Jaramillo, Nancy, additional, Jelinek, Anna, additional, Jensen, William, additional, Jones, Mark, additional, Jordy, Michelle, additional, Jorgenson, Alissa, additional, Jou, Roger, additional, Pablo Juarez, A., additional, Judge, Jessyca, additional, Jurayj, Jane, additional, Kalmus, Taylor, additional, Kanne, Stephen, additional, Kaplan, Hannah E., additional, Kasparson, Lauren, additional, Kent, Matt, additional, Hyun Kim, So, additional, Kitaygorodsky, Alex, additional, Koene, Hope, additional, Koomar, Tanner, additional, Korchina, Viktoriya, additional, Krentz, Anthony D., additional, Lam Schneider, Hoa, additional, Lamarche, Elena, additional, Lampert, Erica, additional, Landa, Rebecca J., additional, Lash, Alex E., additional, Kiely Law, J., additional, Lawson, Noah, additional, Layman, Kevin, additional, Lechniak, Holly, additional, Lee, Sandra, additional, Lee, Soo J., additional, Lee Coury, Daniel, additional, Lese Martin, Christa, additional, Lesher, Laurie, additional, Li, Hai, additional, Li, Deana, additional, Lillie, Natasha, additional, Liu, Xiuping, additional, Lopez, Marilyn, additional, Lord, Catherine, additional, Lowe, Kathryn, additional, Mallardi, Malcolm D., additional, Manning, Patricia, additional, Manoharan, Julie, additional, Marini, Richard, additional, Martin, Christa, additional, Marzano, Gabriela, additional, Mason, Andrew, additional, Mastel, Sarah, additional, Matthews, Emily T., additional, McCracken, James T., additional, McKenzie, Alexander P., additional, Miceli, Alexandra, additional, Michaelson, Jacob J., additional, Milliken, Anna, additional, Mohiuddin, Sarah, additional, Momin, Zeineen, additional, Morrier, Michael J., additional, Mostofsky, Stewart, additional, Murali, Shwetha, additional, Muzny, Donna, additional, Myers, Vincent J., additional, Neely, Jason, additional, Nessner, Caitlin, additional, Nicholson, Amy, additional, Niederhouser, Melanie, additional, O'Brien, Kaela, additional, O'Connor, Eirene, additional, O'Neil, Molly, additional, Ochoa-Lubinoff, Cesar, additional, Orobio, Jessica, additional, Orrick, Libby, additional, Ortiz, Crissy, additional, Ousley, Opal Y., additional, Pacheco, Lillian D., additional, Palmer, Samiza, additional, Pandey, Juhi, additional, Marie Paolicelli, Anna, additional, Pawlowski, Katherine G., additional, Pierce, Karen L., additional, Piven, Joseph, additional, Plate, Samantha, additional, Polanco, Jose, additional, Popp, Marc, additional, Pottschmidt, Natalie, additional, Pramparo, Tiziano, additional, Prock, Lisa M., additional, Qi, Hongjian, additional, Qiu, Shanping, additional, Rachubinski, Angela L., additional, Rajbhandari, Kshitij, additional, Rana, Rishiraj, additional, Ranganathan, Vai, additional, Raymond, Laurie, additional, Remington, Rick, additional, Rice, Catherine E., additional, Rigby, Chris, additional, Robertson, Beverly E., additional, Rodriguez, Nicki, additional, Rodriguez, Barbara, additional, Roeder, Katherine, additional, Rosenberg, Cordelia R., additional, Russo-Ponsaran, Nicole, additional, Ruzzo, Elizabeth, additional, Sabo, Aniko, additional, Sahin, Mustafa, additional, Salomatov, Andrei, additional, Sandhu, Sophia, additional, Santangelo, Susan, additional, Sarver, Dustin E., additional, Scherr, Jessica, additional, Schultz, Robert T., additional, Schweers, Kathryn A., additional, Shaffer, Rebecca, additional, Shah, Swapnil, additional, Shaikh, Tamim, additional, Shen, Yufeng, additional, Shocklee, Amanda D., additional, Shulman, Lisa, additional, Siegel, Matthew, additional, Simon, Andrea R., additional, Simon, Laura, additional, Singh, Vini, additional, Skinner, Steve, additional, Smith, Christopher J., additional, Smith, Kaitlin, additional, Snyder, LeeAnne G., additional, Soorya, Latha V., additional, Soucy, Aubrie, additional, Stamps, Danielle, additional, Steele, Morgan, additional, Stephens, Alexandra N., additional, Stock, Colleen M., additional, Sullivan, Catherine, additional, Sutcliffe, James S., additional, Swanson, Amy, additional, Tafolla, Maira, additional, Takahashi, Nicole, additional, Taylor, Cora, additional, Thomas, Carrie, additional, Thomas, Taylor, additional, Thompson, Samantha, additional, Tjernagel, Jennifer, additional, Turner, Tychele N., additional, Valicenti-McDermott, Maria, additional, Van Metre, Bonnie, additional, Van Wade, Candace, additional, Veenstra-Vanderweele, Jeremy, additional, Verdi, Mary, additional, Vernoia, Brianna M., additional, Volfovsky, Natalia, additional, Wallace, Jermel, additional, Walston, Corrie H., additional, Wang, Jiayao, additional, Wang, Tianyun, additional, Warren, Zachary, additional, Wasserburg, Lucy, additional, White, Sabrina, additional, Casey White-Lehman, L., additional, Wodka, Ericka L., additional, Xu, Simon, additional, Yang, Wha S., additional, Yinger, Meredith, additional, Youngkin, Sarah, additional, Yu, Timothy, additional, Zang, Lan, additional, Zaydens, Hana, additional, Zhang, Haicang, additional, Zhao, Haoquan, additional, Zhou, Xueya, additional, and Zick, Allyson, additional

Published
2020
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24. Mass Cytometry Reveals Global Immune Remodeling with Multi-lineage Hypersensitivity to Type I Interferon in Down Syndrome

Author

Waugh, Katherine A., primary, Araya, Paula, additional, Pandey, Ahwan, additional, Jordan, Kimberly R., additional, Smith, Keith P., additional, Granrath, Ross E., additional, Khanal, Santosh, additional, Butcher, Eric T., additional, Estrada, Belinda Enriquez, additional, Rachubinski, Angela L., additional, McWilliams, Jennifer A., additional, Minter, Ross, additional, Dimasi, Tiana, additional, Colvin, Kelley L., additional, Baturin, Dmitry, additional, Pham, Andrew T., additional, Galbraith, Matthew D., additional, Bartsch, Kyle W., additional, Yeager, Michael E., additional, Porter, Christopher C., additional, Sullivan, Kelly D., additional, Hsieh, Elena W., additional, and Espinosa, Joaquin M., additional

Published
2019
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26. Generation of reactive oxygen species in 1-methyl-4-phenylpyridinium (MPP+) treated dopaminergic neurons occurs as an NADPH oxidase-dependent two-wave cascade

Author

Das Mita, Rachubinski Angela L, Cantu David, Marriott Beth, Thornton Jennifer, Banninger Gregg P, Zawada W Michael, Griffin W Sue T, and Jones Susan M

Subjects
Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract Background Reactive oxygen species (ROS), superoxide and hydrogen peroxide (H2O2), are necessary for appropriate responses to immune challenges. In the brain, excess superoxide production predicts neuronal cell loss, suggesting that Parkinson's disease (PD) with its wholesale death of dopaminergic neurons in substantia nigra pars compacta (nigra) may be a case in point. Although microglial NADPH oxidase-produced superoxide contributes to dopaminergic neuron death in an MPTP mouse model of PD, this is secondary to an initial die off of such neurons, suggesting that the initial MPTP-induced death of neurons may be via activation of NADPH oxidase in neurons themselves, thus providing an early therapeutic target. Methods NADPH oxidase subunits were visualized in adult mouse nigra neurons and in N27 rat dopaminergic cells by immunofluorescence. NADPH oxidase subunits in N27 cell cultures were detected by immunoblots and RT-PCR. Superoxide was measured by flow cytometric detection of H2O2-induced carboxy-H2-DCFDA fluorescence. Cells were treated with MPP+ (MPTP metabolite) following siRNA silencing of the Nox2-stabilizing subunit p22phox, or simultaneously with NADPH oxidase pharmacological inhibitors or with losartan to antagonize angiotensin II type 1 receptor-induced NADPH oxidase activation. Results Nigral dopaminergic neurons in situ expressed three subunits necessary for NADPH oxidase activation, and these as well as several other NADPH oxidase subunits and their encoding mRNAs were detected in unstimulated N27 cells. Overnight MPP+ treatment of N27 cells induced Nox2 protein and superoxide generation, which was counteracted by NADPH oxidase inhibitors, by siRNA silencing of p22phox, or losartan. A two-wave ROS cascade was identified: 1) as a first wave, mitochondrial H2O2 production was first noted at three hours of MPP+ treatment; and 2) as a second wave, H2O2 levels were further increased by 24 hours. This second wave was eliminated by pharmacological inhibitors and a blocker of protein synthesis. Conclusions A two-wave cascade of ROS production is active in nigral dopaminergic neurons in response to neurotoxicity-induced superoxide. Our findings allow us to conclude that superoxide generated by NADPH oxidase present in nigral neurons contributes to the loss of such neurons in PD. Losartan suppression of nigral-cell superoxide production suggests that angiotensin receptor blockers have potential as PD preventatives.

Published
2011
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27. Trisomy 21 activates the kynurenine pathway via increased dosage of interferon receptors

Author

Powers, Rani K., primary, Sullivan, Kelly D., additional, Culp-Hill, Rachel, additional, Ludwig, Michael P., additional, Smith, Keith P., additional, Waugh, Katherine A., additional, Minter, Ross, additional, Tuttle, Kathryn D., additional, Lewis, Hannah C., additional, Rachubinski, Angela L., additional, Granrath, Ross E., additional, Wilkerson, Rebecca B., additional, Kahn, Darcy E., additional, Joshi, Molishree, additional, D’Alessandro, Angelo, additional, Costello, James C., additional, and Espinosa, Joaquin M., additional

Published
2018
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28. SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research

Author

Feliciano, Pamela, primary, Daniels, Amy M., additional, Green Snyder, LeeAnne, additional, Beaumont, Amy, additional, Camba, Alexies, additional, Esler, Amy, additional, Gulsrud, Amanda G., additional, Mason, Andrew, additional, Gutierrez, Anibal, additional, Nicholson, Amy, additional, Paolicelli, Anna Marie, additional, McKenzie, Alexander P., additional, Rachubinski, Angela L., additional, Stephens, Alexandra N., additional, Simon, Andrea R., additional, Stedman, Amy, additional, Shocklee, Amanda D., additional, Swanson, Amy, additional, Finucane, Brenda, additional, Hilscher, Brittani A., additional, Hauf, Brenda, additional, O’Roak, Brian J., additional, McKenna, Brooke, additional, Robertson, Beverly E., additional, Rodriguez, Barbara, additional, Vernoia, Brianna M., additional, Van Metre, Bonnie, additional, Bradley, Catherine, additional, Cohen, Cheryl, additional, Erickson, Craig A., additional, Harkins, Christina, additional, Hayes, Caitlin, additional, Lord, Catherine, additional, Martin, Christa Lese, additional, Ortiz, Crissy, additional, Ochoa-Lubinoff, Cesar, additional, Peura, Christine, additional, Rice, Catherine E., additional, Rosenberg, Cordelia R., additional, Smith, Christopher J., additional, Thomas, Carrie, additional, Taylor, Cora M., additional, White, Loran Casey, additional, Walston, Corrie H., additional, Amaral, David G., additional, Coury, Daniel Lee, additional, Sarver, Dustin E., additional, Istephanous, Dalia, additional, Li, Deana, additional, Nugyen, Dzung Cong, additional, Fox, Emily A., additional, Butter, Eric M., additional, Berry-Kravis, Elizabeth, additional, Courchesne, Eric, additional, Fombonne, Eric J., additional, Hofammann, Eugenia, additional, Lamarche, Elena, additional, Wodka, Ericka L., additional, Matthews, Emily T., additional, O’Connor, Eirene, additional, Palen, Emily, additional, Miller, Fiona, additional, Dichter, Gabriel S., additional, Marzano, Gabriela, additional, Stein, Gail, additional, Hutter, Hanna, additional, Kaplan, Hannah E., additional, Li, Hai, additional, Lechniak, Holly, additional, Schneider, Hoa Lam, additional, Zaydens, Hana, additional, Arriaga, Ivette, additional, Gerdts, Jennifer A., additional, Cubells, Joseph F., additional, Cordova, Jeanette M., additional, Gunderson, Jaclyn, additional, Lillard, Joseph, additional, Manoharan, Julie, additional, McCracken, James T., additional, Michaelson, Jacob J., additional, Neely, Jason, additional, Orobio, Jessica, additional, Pandey, Juhi, additional, Piven, Joseph, additional, Scherr, Jessica, additional, Sutcliffe, James S., additional, Tjernagel, Jennifer, additional, Wallace, Jermel, additional, Callahan, Kristen, additional, Dent, Katherine, additional, Schweers, Kathryn A., additional, Hamer, Kira E., additional, Law, J. Kiely, additional, Lowe, Kathryn, additional, O’Brien, Kaela, additional, Smith, Kaitlin, additional, Pawlowski, Katherine G., additional, Pierce, Karen L., additional, Roeder, Katherine, additional, Abbeduto, Leonard J., additional, Berry, Leandra N., additional, Cartner, Lindsey A., additional, Coppola, Leigh A., additional, Carpenter, Laura, additional, Cordeiro, Lisa, additional, DeMarco, Lindsey, additional, Grosvenor, Luke P., additional, Higgins, Lorrin, additional, Huang-Storms, Lark Y., additional, Hosmer-Quint, Landon, additional, Herbert, Lynette M., additional, Kasparson, Lauren, additional, Prock, Lisa M., additional, Pacheco, Lillian D., additional, Raymond, Laurie, additional, Simon, Laura, additional, Soorya, Latha V., additional, Wasserburg, Lucy, additional, Lazar, Maya, additional, Alessandri, Michael, additional, Brown, Melissa, additional, Currin, Mary Hannah, additional, Gwynette, McLeod F., additional, Heyman, Michelle, additional, Hale, Melissa N., additional, Jones, Mark, additional, Jordy, Michelle, additional, Morrier, Michael J., additional, Sahin, Mustafa, additional, Siegel, Matthew S., additional, Verdi, Mary, additional, Parlade, Meaghan Venezia, additional, Yinger, Meredith, additional, Bardett, Nicole, additional, Hanna, Nathan, additional, Harris, Nina, additional, Pottschmidt, Natalie, additional, Russo-Ponsaran, Nicole, additional, Takahashi, Nicole, additional, Ousley, Opal Y., additional, Juarez, A. Pablo, additional, Manning, Patricia, additional, Annett, Robert D., additional, Bernier, Raphael A., additional, Clark, Renee D., additional, Landa, Rebecca J., additional, Goin-Kochel, Robin P., additional, Remington, Rick, additional, Schultz, Robert T., additional, Brewster, Stephanie J., additional, Booker, Stephanie, additional, Carpenter, Sarah, additional, Eldred, Sara, additional, Francis, Sunday, additional, Friedman, Sandra L., additional, Horner, Susannah, additional, Hepburn, Susan, additional, Jacob, Suma, additional, Kanne, Stephen, additional, Lee, Soo J., additional, Mastel, Sarah A., additional, Plate, Samantha, additional, Qiu, Shanping, additional, Sandhu, Sophia, additional, Thompson, Samantha, additional, White, Sabrina, additional, Myers, Vincent J., additional, Singh, Vini, additional, Yang, Wha S., additional, Warren, Zachary, additional, Amatya, Alpha, additional, Ace, Andrea J., additional, Chatha, Ahmad S., additional, Lash, Alex E., additional, Negron, Ben, additional, Rigby, Chris, additional, Ridenour, Curtis, additional, Stock, Colleen M., additional, Schmidt, Danielle, additional, Fisk, Ian, additional, Acampado, John, additional, Nestle, Jay L., additional, Nestle, Jay A., additional, Layman, Kevin, additional, Butler, Martin E., additional, Kent, Matt, additional, Mallardi, Malcolm D., additional, Carriero, Nicholas, additional, Lawson, Noah, additional, Volfovsky, Natalia, additional, Edgar, Ron, additional, Marini, Richard, additional, Rana, Rishiraj, additional, Ganesan, Swami, additional, Shah, Swapnil, additional, Ramsey, Tyler, additional, Chin, Wubin, additional, Jensen, William, additional, Krentz, Anthony D., additional, Gruber, Angela J., additional, Sabo, Aniko, additional, Salomatov, Andrei, additional, Eng, Christine, additional, Muzny, Donna, additional, Astrovskaya, Irina, additional, Gibbs, Richard A., additional, Han, Xinwei, additional, Shen, Yufeng, additional, Reichardt, Louis F., additional, and Chung, Wendy K., additional

Published
2018
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31. The co-occurrence of Down syndrome and autism spectrum disorder: is it because of additional genetic variations?

Author

Rachubinski, Angela L., Hepburn, Susan, Elias, Ellen R., Gardiner, Katheleen, and Shaikh, Tamim H.

Abstract

Individuals with Down syndrome (DS) are diagnosed with autism spectrum disorder (ASD) at a significantly higher frequency than the typical population. The differentiation of ASD symptoms from those of severe intellectual disability presents diagnostic challenges, which have led to more refined methods in the clinical evaluation of ASD in DS. These improved phenotypic characterization methods not only provide better diagnosis of ASD in DS, but may also be useful in elucidating the etiology of the increased prevalence of ASD in DS. Because all individuals with the classic presentation of DS have trisomy 21, it is possible that those with co-occurring DS and ASD may have additional genetic variants which can act as modifiers of the phenotype, leading to the development of ASD. © 2016 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Published
2017
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34. JAK inhibition decreases the autoimmune burden in Down syndrome.

Author

Rachubinski AL, Wallace E, Gurnee E, Estrada BAE, Worek KR, Smith KP, Araya P, Waugh KA, Granrath RE, Britton E, Lyford HR, Donovan MG, Eduthan NP, Hill AA, Martin B, Sullivan KD, Patel L, Fidler DJ, Galbraith MD, Dunnick CA, Norris DA, and Espinosa JM

Abstract

Individuals with Down syndrome (DS), the genetic condition caused by trisomy 21 (T21), display clear signs of immune dysregulation, including high rates of autoimmune disorders and severe complications from infections. Although it is well established that T21 causes increased interferon responses and JAK/STAT signaling, elevated autoantibodies, global immune remodeling, and hypercytokinemia, the interplay between these processes, the clinical manifestations of DS, and potential therapeutic interventions remain ill defined. Here, we report a comprehensive analysis of immune dysregulation at the clinical, cellular, and molecular level in hundreds of individuals with DS. We demonstrate multi-organ autoimmunity of pediatric onset concurrent with unexpected autoantibody-phenotype associations. Importantly, constitutive immune remodeling and hypercytokinemia occur from an early age prior to autoimmune diagnoses or autoantibody production. We then report the interim analysis of a Phase II clinical trial investigating the safety and efficacy of the JAK inhibitor tofacitinib through multiple clinical and molecular endpoints. Analysis of the first 10 participants to complete the 16-week study shows a good safety profile and no serious adverse events. Treatment reduced skin pathology in alopecia areata, psoriasis, and atopic dermatitis, while decreasing interferon scores, cytokine scores, and levels of pathogenic autoantibodies without overt immune suppression. Additional research is needed to define the effects of JAK inhibition on the broader developmental and clinical hallmarks of DS. ClinicalTrials.gov identifier: NCT04246372., Competing Interests: Competing Interests Statement: J.M.E. has provided consulting services for Eli Lilly Co., Gilead Sciences Inc., and Biohaven Pharmaceuticals and serves on the advisory board of Perha Pharmaceuticals. The remaining authors declare no competing interests.

Published
2024
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35. Genome-wide association studies of Down syndrome associated congenital heart defects.

Author

Feldman ER, Li Y, Cutler DJ, Rosser TC, Wechsler SB, Sanclemente L, Rachubinski AL, Elliott N, Vyas P, Roberts I, Rabin KR, Wagner M, Gelb BD, Espinosa JM, Lupo PJ, de Smith AJ, Sherman SL, and Leslie EJ

Abstract

Congenital heart defects (CHDs) are the most common structural birth defect and are present in 40-50% of children born with Down syndrome (DS). To characterize the genetic architecture of DS-associated CHD, we sequenced genomes of a multiethnic group of children with DS and a CHD (n=886: atrioventricular septal defects (AVSD), n=438; atrial septal defects (ASD), n=122; ventricular septal defects (VSD), n=170; other types of CHD, n=156) and DS with a structurally normal heart (DS+NH, n=572). We performed four GWAS for common variants (MAF>0.05) comparing DS with CHD, stratified by CHD-subtype, to DS+NH controls. Although no SNP achieved genome-wide significance, multiple loci in each analysis achieved suggestive significance (p<2×10 -6 ). Of these, the 1p35.1 locus (near RBBP4 ) was specifically associated with ASD risk and the 5q35.2 locus (near MSX2 ) was associated with any type of CHD. Each of the suggestive loci contained one or more plausible candidate genes expressed in the developing heart. While no SNP replicated (p<2×10 -6 ) in an independent cohort of DS+CHD (DS+CHD: n=229; DS+NH: n=197), most SNPs that were suggestive in our GWASs remained suggestive when meta-analyzed with the GWASs from the replication cohort. These results build on previous work to identify genetic modifiers of DS-associated CHD.

Published
2024
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