Resultados de búsqueda - Paul C. Marcogliese

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  1. 1
    <i>Drosophila</i>Voltage-Gated Sodium Channels Are Only Expressed in Active Neurons and Are Localized to Distal Axonal Initial Segment-like Domains

    <i>Drosophila</i>Voltage-Gated Sodium Channels Are Only Expressed in Active Neurons and Are Localized to Distal Axonal Initial Segment-like Domains por Thomas A. Ravenscroft, Jasper Janssens, Pei-Tseng Lee, Burak Tepe, Paul C. Marcogliese, Samira Makhzami, Todd C. Holmes, Stein Aerts, Hugo J. Bellen

    Publicado 2020
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  2. 2
    Neuronal ROS-induced glial lipid droplet formation is altered by loss of Alzheimer’s disease–associated genes

    Neuronal ROS-induced glial lipid droplet formation is altered by loss of Alzheimer’s disease–associated genes por Matthew J. Moulton, Scott Barish, Isha Ralhan, Jinlan Chang, Lindsey D. Goodman, Jake G. Harland, Paul C. Marcogliese, Jan O. Johansson, Maria S. Ioannou, Hugo J. Bellen

    Publicado 2021
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  3. 3
    Progressive dopaminergic cell loss with unilateral-to-bilateral progression in a genetic model of Parkinson disease

    Progressive dopaminergic cell loss with unilateral-to-bilateral progression in a genetic model of Parkinson disease por Maxime W.C. Rousseaux, Paul C. Marcogliese, Dianbo Qu, Sarah J. Hewitt, Sarah Seang, Raymond H. Kim, Ruth S. Slack, Michael G. Schlossmacher, Diane C. Lagace, Tak W. Mak, David S. Park

    Publicado 2012
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  4. 4
    DJ-1 protects the nigrostriatal axis from the neurotoxin MPTP by modulation of the AKT pathway

    DJ-1 protects the nigrostriatal axis from the neurotoxin MPTP by modulation of the AKT pathway por Hossein Aleyasin, Maxime W.C. Rousseaux, Paul C. Marcogliese, Sarah J. Hewitt, Isabella Irrcher, Alvin Joselin, Mohammad Parsanejad, Raymond H. Kim, Patrizia Rizzu, Steve Callaghan, Ruth S. Slack, Tak W. Mak, David S. Park

    Publicado 2010
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  5. 5
    BAG2 Gene-mediated Regulation of PINK1 Protein Is Critical for Mitochondrial Translocation of PARKIN and Neuronal Survival

    BAG2 Gene-mediated Regulation of PINK1 Protein Is Critical for Mitochondrial Translocation of PARKIN and Neuronal Survival por Dianbo Qu, Ali Hage, Katie Don-Carolis, En Huang, Alvin Joselin, Farzaneh Safarpour, Paul C. Marcogliese, Maxime W.C. Rousseaux, Sarah J. Hewitt, Tianwen Huang, Doo Soon Im, Steve Callaghan, Danielle Dewar‐Darch, Daniel Figeys, Ruth S. Slack, David S. Park

    Publicado 2015
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  6. 6
    De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy

    De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy por Hyunglok Chung, Xiao Mao, Hua Wang, Ye-Jin Park, Paul C. Marcogliese, Jill A. Rosenfeld, Lindsay C. Burrage, Pengfei Liu, David R. Murdock, Shinya Yamamoto, Michael F. Wangler, Hsiao‐Tuan Chao, Hongyu Long, Li Feng, Carlos A. Bacino, Hugo J. Bellen, Bo Xiao

    Publicado 2020
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  7. 7
    Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures

    Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures por Shenzhao Lu, Rebecca Hernan, Paul C. Marcogliese, Yan Huang, Tracy S. Gertler, Meltem Akçaboy, Shiyong Liu, Hyunglok Chung, Xueyang Pan, Xiaoqin Sun, Melahat Melek Oğuz, Ülkühan Öztoprak, Jeroen H. F. de Baaij, Jelena Ivanisevic, Erin McGinnis, María J. Guillen Sacoto, Wendy K. Chung, Hugo J. Bellen

    Publicado 2022
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  8. 8
    Regulation of myeloid cell phagocytosis by LRRK2 via WAVE2 complex stabilization is altered in Parkinson’s disease

    Regulation of myeloid cell phagocytosis by LRRK2 via WAVE2 complex stabilization is altered in Parkinson’s disease por Kwang S. Kim, Paul C. Marcogliese, Jungwoo Yang, Steve Callaghan, Virgínia Maria Ferreira Resende, Elizabeth Abdel-Messih, Connie Marras, Naomi P. Visanji, Jana Huang, Michael G. Schlossmacher, Laura Trinkle‐Mulcahy, Ruth S. Slack, Anthony E. Lang, David S. Park, Earl G. Brown, Derrick Gibbings, Shawn Hayley, David S. Park, Dana C. Philpott, John D. Rioux, Michael G. Schlossmacher, Erwin Schurr

    Publicado 2018
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  9. 9
    Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms

    Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms por Hyunglok Chung, Michael F. Wangler, Paul C. Marcogliese, Ju-Yeon Jo, Thomas A. Ravenscroft, Zhongyuan Zuo, Lita Duraine, Sina Sadeghzadeh, David Li‐Kroeger, Robert E. Schmidt, Alan Pestronk, Jill A. Rosenfeld, Lindsay C. Burrage, Mitchell J. Herndon, Shan Chen, Amelle Shillington, Marissa Vawter‐Lee, Robert J. Hopkin, Jackeline Rodriguez‐Smith, Michael Henrickson, Brendan Lee, Ann B. Moser, Richard O. Jones, Paul A. Watkins, Taekyeong Yoo, Soe Mar, Murim Choi, Robert C. Bucelli, Shinya Yamamoto, Hyun Kyoung Lee, Carlos E. Prada, Jong‐Hee Chae, Tiphanie P. Vogel, Hugo J. Bellen

    Publicado 2020
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  10. 10
    Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

    Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases por Paul C. Marcogliese, Samantha L. Deal, Jonathan C. Andrews, J. Michael Harnish, Venkata Hemanjani Bhavana, Hillary K. Graves, Sharayu Jangam, Xi Luo, Ning Liu, Danqing Bei, Yu-Hsin Chao, Brooke Hull, Pei-Tseng Lee, Hongling Pan, Pradnya Bhadane, Mei‐Chu Huang, Colleen M Longley, Hsiao‐Tuan Chao, Hyunglok Chung, Nele A. Haelterman, Oguz Kanca, Sathiyanarayanan Manivannan, Linda Rossetti, Ryan J. German, Amanda Gerard, Eva Maria Christina Schwaibold, Sarah Fehr, Renzo Guerrini, Annalisa Vetro, Eleina England, Chaya N. Murali, Tahsin Stefan Barakat, Marieke F. van Dooren, Martina Wilke, Marjon van Slegtenhorst, Gaëtan Lesca, Isabelle Sabatier, Nicolas Chatron, Catherine A. Brownstein, Jill A. Madden, Pankaj B. Agrawal, Boris Keren, Thomas Courtin, Laurence Perrin, Melanie Brugger, Timo Roser, Steffen Leiz, Frédéric Tran Mau‐Them, Julian Delanne, Elena Sukarova-Angelovska, Slavica Trajkova, Erik Rosenhahn, Vincent Strehlow, Konrad Platzer, Roberto Keller, Lisa Pavinato, Alfredo Brusco, Jill A. Rosenfeld, Ronit Marom, Michael F. Wangler, Shinya Yamamoto

    Publicado 2022
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  11. 11
    Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

    Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders por Hui Guo, Elisa Bettella, Paul C. Marcogliese, Rongjuan Zhao, Jonathan C. Andrews, Tomasz J. Nowakowski, Madelyn A. Gillentine, Kendra Hoekzema, Tianyun Wang, Huidan Wu, Sharayu Jangam, Cenying Liu, Hailun Ni, Marjolein H. Willemsen, Bregje W.M. van Bon, Tuula Rinne, Servi J.C. Stevens, Tjitske Kleefstra, Han G. Brunner, Helger G. Yntema, Long Min, Wenjing Zhao, Zhengmao Hu, Cindy Colson, Nicolas Richard, Charles E. Schwartz, Corrado Romano, Lucia Castiglia, Maria Bottitta, Shweta U. Dhar, Deanna Erwin, Lisa Emrick, Boris Keren, Alexandra Afenjar, Baosheng Zhu, Bing Bai, Paweł Stankiewicz, Kristin Herman, Saadet Mercimek‐Andrews, Jane Juusola, Amy Wilfert, Rami Abou Jamra, Benjamin Büttner, Heather C. Mefford, Alison M. Muir, Ingrid E. Scheffer, Brigid M. Regan, Stephen Malone, Jozef Gécz, Jan Cobben, Marjan M. Weiss, Quinten Waisfisz, Emilia Bijlsma, Mariette J. V. Hoffer, Claudia Ruivenkamp, Stefano Sartori, Fan Xia, Jill Rosenfeld, Raphael Bernier, Michael F. Wangler, Shinya Yamamoto, Kun Xia, Alexander P.A. Stegmann, Hugo J. Bellen, Alessandra Murgia, Evan E. Eichler

    Publicado 2019
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  12. 12
    IRF2BPL Is Associated with Neurological Phenotypes

    IRF2BPL Is Associated with Neurological Phenotypes por Paul C. Marcogliese, Vandana Shashi, Rebecca C. Spillmann, Nicholas Stong, Jill A. Rosenfeld, Mary Kay Koenig, Julián A. Martínez-Agosto, Matthew Herzog, Agnes H. Chen, Patricia Dickson, Henry J. Lin, Moin Vera, Noriko Salamon, John M. Graham, Damara Ortiz, Elena Infante, Wouter Steyaert, Bart Dermaut, Bruce Poppe, Hyunglok Chung, Zhongyuan Zuo, Pei-Tseng Lee, Oguz Kanca, Fan Xia, Yaping Yang, Edward C. Smith, Joan Jasien, Sujay Kansagra, Gail A. Spiridigliozzi, Mays El-Dairi, Robert K. Lark, Kacie Riley, Dwight D. Koeberl, Katie Golden‐Grant, Shinya Yamamoto, Michael F. Wangler, Ghayda Mirzaa, Dimitri Hemelsoet, Brendan Lee, Stanley F. Nelson, David B. Goldstein, Hugo J. Bellen, Loren D.M. Peña, Steven Callens, Paul Coucke, Bart Dermaut, Dimitri Hemelsoet, Bruce Poppe, Wouter Steyaert, Wim Terryn, Rudy Van Coster, David R. Adams, Mercedes E. Alejandro, Patrick Allard, Mahshid S. Azamian, Carlos A. Bacino, Ashok Balasubramanyam, Hayk Barseghyan, Gabriel F. Batzli, Alan H. Beggs, Babak Behnam, Anna Bican, David Bick, Camille L. Birch, Devon Bonner, Braden Boone, Bret L. Bostwick, Lauren C. Briere, Donna M. Brown, Matthew Brush, Elizabeth A. Burke, Lindsay C. Burrage, Shan Chen, Gary Clark, Terra R. Coakley, Joy D. Cogan, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Precilla D’Souza, Mariska Davids, Jyoti G. Dayal, Esteban C. Dell’Angelica, Shweta U. Dhar, Ani Dillon, Katrina M. Dipple, Laurel A. Donnell‐Fink, Naghmeh Dorrani, Daniel C. Dorset, Emilie D. Douine, David D. Draper, David J. Eckstein, Lisa Emrick, Christine M. Eng, Ascia Eskin, Cecilia Esteves, Tyra Estwick, Carlos R. Ferreira, Brent L. Fogel, Noah D. Friedman

    Publicado 2018
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