Chronic signaling via the metabolic checkpoint kinase mTORC1 induces macrophage granuloma formation and marks sarcoidosis progression von Linke, Monika, Pham, Ha Thi Thanh, Katholnig, Karl, Schnöller, Thomas, Miller, Anne, Demel, Florian, Schütz, Birgit, Rosner, Margit, Kovacic, Boris, Sukhbaatar, Nyamdelger, Niederreiter, Birgit, Blüml, Stephan, Kuess, Peter, Sexl, Veronika, Müller, Mathias, Mikula, Mario, Weckwerth, Wolfram, Haschemi, Arvand, Susani, Martin, Hengstschläger, Markus, Gambello, Michael J, Weichhart, Thomas

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Mammalian Target of Rapamycin (mTOR) Activation Increases Axonal Growth Capacity of Injured Peripheral Nerves von Abe, Namiko, Borson, Steven H., Gambello, Michael J., Wang, Fan, Cavalli, Valeria

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Loss of Tsc2 in Purkinje cells is associated with autistic-like behavior in a mouse model of tuberous sclerosis complex von Reith, R. Michelle, McKenna, James, Wu, Henry, Hashmi, S. Shahrukh, Cho, Seo-Hee, Dash, Pramod K, Gambello, Michael J

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mTOR Hyperactivation by Ablation of Tuberous Sclerosis Complex 2 in the Mouse Heart Induces Cardiac Dysfunction with the Increased Number of Small Mitochondria Mediated through the... von Taneike, Manabu, Nishida, Kazuhiko, Omiya, Shigemiki, Zarrinpashneh, Elham, Misaka, Tomofumi, Kitazume-Taneike, Rika, Austin, Ruth, Takaoka, Minoru, Yamaguchi, Osamu, Gambello, Michael J, Shah, Ajay M, Otsu, Kinya

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Impaired Reelin-Dab1 Signaling Contributes to Neuronal Migration Deficits of Tuberous Sclerosis Complex von Moon, Uk Yeol, Park, Jun Young, Park, Raehee, Cho, Jennifer Y., Hughes, Lucinda J., McKenna, James, Goetzl, Laura, Cho, Seo-Hee, Crino, Peter B., Gambello, Michael J., Kim, Seonhee

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Disruption of Tsc2 in pancreatic β cells induces β cell mass expansion and improved glucose tolerance in a TORC1-dependent manner von Rachdi, Latif, Balcazar, Norman, Osorio-Duque, Fernando, Elghazi, Lynda, Weiss, Aaron, Gould, Aaron, Chang-Chen, Karen J, Gambello, Michael J, Bernal-Mizrachi, Ernesto

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MPV17‐related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects von El‐Hattab, Ayman W., Wang, Julia, Dai, Hongzheng, Almannai, Mohammed, Staufner, Christian, Alfadhel, Majid, Gambello, Michael J., Prasun, Pankaj, Raza, Saleem, Lyons, Hernando J., Afqi, Manal, Saleh, Mohammed A. M., Faqeih, Eissa A., Alzaidan, Hamad I., Alshenqiti, Abduljabbar, Flore, Leigh Anne, Hertecant, Jozef, Sacharow, Stephanie, Barbouth, Deborah S., Murayama, Kei, Shah, Amit A., Lin, Henry C., Wong, Lee‐Jun C.

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The differential effects of prenatal and/or postnatal rapamycin on neurodevelopmental defects and cognition in a neuroglial mouse model of tuberous sclerosis complex von WAY, Sharon W, ROZAS, Natalia S, WU, Henry C, MCKENNA, James, REITH, R. Michelle, HASHMI, S. Shahrukh, DASH, Pramod K, GAMBELLOL, Michael J

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Metabotropic glutamate receptor-dependent long-term depression is impaired due to elevated ERK signaling in the ΔRG mouse model of tuberous sclerosis complex von Chévere-Torres, Itzamarie, Kaphzan, Hanoch, Bhattacharya, Aditi, Kang, Areum, Maki, Jordan M, Gambello, Michael J, Arbiser, Jack L, Santini, Emanuela, Klann, Eric

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Loss of the tuberous sclerosis complex protein tuberin causes Purkinje cell degeneration von Reith, R. Michelle, Way, Sharon, McKenna, James, Haines, Katherine, Gambello, Michael J

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14-3-3ε is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller–Dieker syndrome von Toyo-oka, Kazuhito, Shionoya, Aki, Gambello, Michael J, Cardoso, Carlos, Leventer, Richard, Ward, Heather L, Ayala, Ramses, Tsai, Li-Huei, Dobyns, William, Ledbetter, David, Hirotsune, Shinji, Wynshaw-Boris, Anthony

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Glucose Regulation of Load‐Induced mTOR Signaling and ER Stress in Mammalian Heart von Sen, Shiraj, Kundu, Bijoy K., Wu, Henry Cheng‐Ju, Hashmi, S. Shahrukh, Guthrie, Patrick, Locke, Landon W., Roy, R. Jack, Matherne, G. Paul, Berr, Stuart S., Terwelp, Matthew, Scott, Brian, Carranza, Sylvia, Frazier, O. Howard, Glover, David K., Dillmann, Wolfgang H., Gambello, Michael J., Entman, Mark L., Taegtmeyer, Heinrich

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Study protocol for The Emory 3q29 Project: evaluation of neurodevelopmental, psychiatric, and medical symptoms in 3q29 deletion syndrome von Murphy, Melissa M, Lindsey Burrell, T, Cubells, Joseph F, España, Roberto Antonio, Gambello, Michael J, Goines, Katrina C B, Klaiman, Cheryl, Li, Longchuan, Novacek, Derek M, Papetti, Ava, Sanchez Russo, Rossana Lucia, Saulnier, Celine A, Shultz, Sarah, Walker, Elaine, Mulle, Jennifer Gladys

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Comprehensive phenotyping of neuropsychiatric traits in a multiplex 3q29 deletion family: a case report von Murphy, Melissa M, Burrell, T Lindsey, Cubells, Joseph F, Epstein, Michael T, Espana, Roberto, Gambello, Michael J, Goines, Katrina, Klaiman, Cheryl, Koh, Sookyong, Russo, Rossana Sanchez, Saulnier, Celine A, Walker, Elaine, Mulle, Jennifer Gladys

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The complex behavioral phenotype of 15q13.3 microdeletion syndrome von Ziats, Mark N., Goin-Kochel, Robin P., Berry, Leandra N., Ali, May, Ge, Jun, Guffey, Danielle, Rosenfeld, Jill A., Bader, Patricia, Gambello, Michael J., Wolf, Varina, Penney, Lynette S., Miller, Ryan, Lebel, Robert Roger, Kane, Jeffrey, Bachman, Kristine, Troxell, Robin, Clark, Gary, Minard, Charles G., Stankiewicz, Pawel, Beaudet, Arthur, Schaaf, Christian P.

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14-3-3ε Plays a Role in Cardiac Ventricular Compaction by Regulating the Cardiomyocyte Cell Cycle von Kosaka, Yasuhiro, Cieslik, Katarzyna A., Li, Ling, Lezin, George, Maguire, Colin T., Saijoh, Yukio, Toyo-oka, Kazuhito, Gambello, Michael J., Vatta, Matteo, Wynshaw-Boris, Anthony, Baldini, Antonio, Yost, H. Joseph, Brunelli, Luca

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Current strategies for the treatment of inborn errors of metabolism von Gambello, Michael J., Li, Hong

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Generation of a conditional disruption of the Tsc2 gene von Hernandez, Omar, Way, Sharon, McKenna III, James, Gambello, Michael J.

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Thoracic aortic disease in tuberous sclerosis complex: molecular pathogenesis and potential therapies in Tsc2+/− mice von Cao, Jiumei, Gong, Limin, Guo, Dong-chuan, Mietzsch, Ulrike, Kuang, Shao-Qing, Kwartler, Callie S., Safi, Hazim, Estrera, Anthony, Gambello, Michael J., Milewicz, Dianna M.

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The first pediatric case of glucagon receptor defect due to biallelic mutations in GCGR is identified by newborn screening of elevated arginine von Li, Hong, Zhao, Lihua, Singh, Rani, Ham, J. Nina, Fadoju, Doris O., Bean, Lora J.H., Zhang, Yan, Xu, Yong, Xu, H. Eric, Gambello, Michael J.

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