James E Dowling (James J Dowling)

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 39

Top Topics

Duchenne Muscular Dystrophy

Histone Deacetylase

Top Venues

Disease models & mechanisms

Human molecular genetics

Nature medicine

Nature communications

This page only lists publications with an associated author ORCID identifier.

Publications

Lacramioara Fabian, Esmat Karimi, Gerrie P Farman, Jochen Gohlke, Coen A C Ottenheijm, Hendrikus L Granzier, James E Dowling
Comprehensive phenotypic characterization of an allelic series of zebrafish models of NEB-related nemaline myopathy. Human molecular genetics 33 (12) (2024)
Lacramioara Fabian, Esmat Karimi, Gerrie P Farman, Jochen Gohlke, Coen A C Ottenheijm, Hendrikus L Granzier, James E Dowling
Comprehensive phenotypic characterization of an allelic series of zebrafish models of NEB-related nemaline myopathy. Human molecular genetics 33 (12) (2024)
James E Dowling, Terry Pirovolakis, Keshini Devakandan, Ana Stosic, Mia Pidsadny, Elisa Nigro, Mustafa Sahin, Darius Ebrahimi-Fakhari, Souad Messahel, Ganapathy Varadarajan, Benjamin M Greenberg, Xin Chen, Berge A Minassian, Ronald D Cohn, Carsten G Bonnemann, Steven J Gray
AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient. Nature medicine 30 (7) (2024)
Muthukumar Karuppasamy, Katherine G English, Clarissa A Henry, M Chiara Manzini, John M Parant, Melissa A Wright, Avnika A Ruparelia, Peter David Currie, Vandana A Gupta, James E Dowling, Lisa Maves, Matthew S Alexander
Standardization of zebrafish drug testing parameters for muscle diseases. Disease models & mechanisms 17 (1) (2024)
Muthukumar Karuppasamy, Katherine G English, Clarissa A Henry, M Chiara Manzini, John M Parant, Melissa A Wright, Avnika A Ruparelia, Peter David Currie, Vandana A Gupta, James E Dowling, Lisa Maves, Matthew S Alexander
Standardization of zebrafish drug testing parameters for muscle diseases. Disease models & mechanisms 17 (1) (2024)
Jessica Knox, Andrew R Burns, Brittany Cooke, Savina R Cammalleri, Megan Kitner, Justin Ching, Jack M P Castelli, Emily Puumala, Jamie Snider, Emily J Koury, James Bryant Collins, Salma Geissah, James E Dowling, Erik C Andersen, Igor Stagljar, Leah E Cowen, Mark Lautens, Inga Zasada, Peter J Roy
Cyprocide selectively kills nematodes via cytochrome P450 bioactivation. Nature communications 15 (1) (2024)
Jessica Knox, Andrew R Burns, Brittany Cooke, Savina R Cammalleri, Megan Kitner, Justin Ching, Jack M P Castelli, Emily Puumala, Jamie Snider, Emily J Koury, James Bryant Collins, Salma Geissah, James E Dowling, Erik C Andersen, Igor Stagljar, Leah E Cowen, Mark Lautens, Inga Zasada, Peter J Roy
Cyprocide selectively kills nematodes via cytochrome P450 bioactivation. Nature communications 15 (1) (2024)
Lacramioara Fabian, Esmat Karimi, Gerrie P Farman, Jochen Gohlke, Coen A C Ottenheijm, Hendrikus L Granzier, James E Dowling
Comprehensive phenotypic characterization of an allelic series of zebrafish models of NEB-related nemaline myopathy. Human molecular genetics 33 (12) (2024)
Lacramioara Fabian, Esmat Karimi, Gerrie P Farman, Jochen Gohlke, Coen A C Ottenheijm, Hendrikus L Granzier, James E Dowling
Comprehensive phenotypic characterization of an allelic series of zebrafish models of NEB-related nemaline myopathy. Human molecular genetics 33 (12) (2024)
Muthukumar Karuppasamy, Katherine G English, Clarissa A Henry, M Chiara Manzini, John M Parant, Melissa A Wright, Avnika A Ruparelia, Peter David Currie, Vandana A Gupta, James E Dowling, Lisa Maves, Matthew S Alexander
Standardization of zebrafish drug testing parameters for muscle diseases. Disease models & mechanisms 17 (1) (2024)
James E Dowling, Terry Pirovolakis, Keshini Devakandan, Ana Stosic, Mia Pidsadny, Elisa Nigro, Mustafa Sahin, Darius Ebrahimi-Fakhari, Souad Messahel, Ganapathy Varadarajan, Benjamin M Greenberg, Xin Chen, Berge A Minassian, Ronald D Cohn, Carsten G Bonnemann, Steven J Gray
AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient. Nature medicine 30 (7) (2024)
Lacramioara Fabian, Esmat Karimi, Gerrie P Farman, Jochen Gohlke, Coen A C Ottenheijm, Hendrikus L Granzier, James E Dowling
Comprehensive phenotypic characterization of an allelic series of zebrafish models of NEB-related nemaline myopathy. Human molecular genetics (2024)
James E Dowling, Terry Pirovolakis, Keshini Devakandan, Ana Stosic, Mia Pidsadny, Elisa Nigro, Mustafa Sahin, Darius Ebrahimi-Fakhari, Souad Messahel, Ganapathy Varadarajan, Benjamin M Greenberg, Xin Chen, Berge A Minassian, Ronald D Cohn, Carsten G Bonnemann, Steven J Gray
AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient. Nature medicine 30 (7) (2024)
James E Dowling, Terry Pirovolakis, Keshini Devakandan, Ana Stosic, Mia Pidsadny, Elisa Nigro, Mustafa Sahin, Darius Ebrahimi-Fakhari, Souad Messahel, Ganapathy Varadarajan, Benjamin M Greenberg, Xin Chen, Berge A Minassian, Ronald D Cohn, Carsten G Bonnemann, Steven J Gray
AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient. Nature medicine 30 (7) (2024)
Muthukumar Karuppasamy, Katherine G English, Clarissa A Henry, M Chiara Manzini, John M Parant, Melissa A Wright, Avnika A Ruparelia, Peter David Currie, Vandana A Gupta, James E Dowling, Lisa Maves, Matthew S Alexander
Standardization of zebrafish drug testing parameters for muscle diseases. Disease models & mechanisms 17 (1) (2024)
Muthukumar Karuppasamy, Katherine G English, Clarissa A Henry, M Chiara Manzini, John M Parant, Melissa A Wright, Avnika A Ruparelia, Peter David Currie, Vandana A Gupta, James E Dowling, Lisa Maves, Matthew S Alexander
Standardization of zebrafish drug testing parameters for muscle diseases. Disease models & mechanisms 17 (1) (2024)
Muthukumar Karuppasamy, Katherine G English, Clarissa A Henry, M Chiara Manzini, John M Parant, Melissa A Wright, Avnika A Ruparelia, Peter David Currie, Vandana A Gupta, James E Dowling, Lisa Maves, Matthew S Alexander
Standardization of zebrafish drug testing parameters for muscle diseases. Disease models & mechanisms 17 (1) (2024)
Muthukumar Karuppasamy, Katherine G English, Clarissa A Henry, M Chiara Manzini, John M Parant, Melissa A Wright, Avnika A Ruparelia, Peter David Currie, Vandana A Gupta, James E Dowling, Lisa Maves, Matthew S Alexander
Standardization of zebrafish drug testing parameters for muscle diseases. Disease models & mechanisms 17 (1) (2024)
Jessica Knox, Andrew R Burns, Brittany Cooke, Savina R Cammalleri, Megan Kitner, Justin Ching, Jack M P Castelli, Emily Puumala, Jamie Snider, Emily J Koury, James Bryant Collins, Salma Geissah, James E Dowling, Erik C Andersen, Igor Stagljar, Leah E Cowen, Mark Lautens, Inga Zasada, Peter J Roy
Cyprocide selectively kills nematodes via cytochrome P450 bioactivation. Nature communications 15 (1) (2024)
Muthukumar Karuppasamy, Katherine G English, Clarissa A Henry, M Chiara Manzini, John M Parant, Melissa A Wright, Avnika A Ruparelia, Peter David Currie, Vandana A Gupta, James E Dowling, Lisa Maves, Matthew S Alexander
Standardization of zebrafish drug testing parameters for muscle diseases. Disease models & mechanisms 17 (1) (2024)
James E Dowling, Terry Pirovolakis, Keshini Devakandan, Ana Stosic, Mia Pidsadny, Elisa Nigro, Mustafa Sahin, Darius Ebrahimi-Fakhari, Souad Messahel, Ganapathy Varadarajan, Benjamin M Greenberg, Xin Chen, Berge A Minassian, Ronald D Cohn, Carsten G Bonnemann, Steven J Gray
AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient. Nature medicine (2024)
Rebecca Simonian, Emanuela Pannia, Rola Hammoud, Ramil R Noche, Xiucheng Cui, Eva Kranenburg, Ruslan Kubant, Paula Ashcraft, Brandi Wasek, Teodoro Bottiglieri, James E Dowling, G Harvey Anderson
Methylenetetrahydrofolate reductase deficiency and high dose FA supplementation disrupt embryonic development of energy balance and metabolic homeostasis in zebrafish. Human molecular genetics (2023)
Yukari Endo, Linda Groom, Sabrina M Wang, Emanuela Pannia, Nigel W Griffiths, Jenica L M Van Gennip, Brian Ciruna, Jocelyn Laporte, Robert T Dirksen, James E Dowling
Two zebrafish cacna1s loss-of-function variants provide models of mild and severe CACNA1S-related myopathy. Human molecular genetics (2023)
Andrew R Burns, Rachel J Baker, Megan Kitner, Jessica Knox, Brittany Cooke, Jonathan R Volpatti, Aditya S Vaidya, Emily Puumala, Bruna M Palmeira, Elizabeth M Redman, Jamie Snider, Sagar Marwah, Sai W Chung, Margaret H MacDonald, Jens Tiefenbach, Chun Hu, Qi Xiao, Constance A M Finney, Henry M Krause, Sonya A MacParland, Igor Stagljar, John S Gilleard, Leah E Cowen, Susan L F Meyer, Sean R Cutler, James E Dowling, Mark Lautens, Inga Zasada, Peter J Roy
Selective control of parasitic nematodes using bioactivated nematicides. Nature (2023)
Ege Sarikaya, Nesrin Sabha, Jonathan Volpatti, Emanuela Pannia, Nika Maani, Hernan D Gonorazky, Alper Celik, Yijng Liang, Paula Onofre-Oliveira, James E Dowling
Natural history of a mouse model of X-linked myotubular myopathy. Disease models & mechanisms 15 (7) (2022)
James E Dowling
CRISPR editing as a therapeutic strategy for Duchenne muscular dystrophy-anti-Cas9 immune response casts its shadow over safety and efficacy. Gene therapy 29 (10-11) (2022)
Jonathan R Volpatti, Mehdi M Ghahramani-Seno, Mélanie Mansat, Nesrin Sabha, Ege Sarikaya, Sarah J Goodman, Eric Chater-Diehl, Alper Celik, Emanuela Pannia, Carine Froment, Lucie Combes-Soia, Nika Maani, Kyoko E Yuki, Gaëtan Chicanne, Liis Uusküla-Reimand, Simon Monis, Sana Akhtar Alvi, Casie A Genetti, Bernard Payrastre, Alan H Beggs, Carsten G Bonnemann, Francesco Muntoni, Michael D Wilson, Rosanna Weksberg, Julien Viaud, James E Dowling
X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition. Acta neuropathologica 144 (3) (2022)
Yukari Endo, Linda Groom, Alper Celik, Natalia Kraeva, Chang Seok Lee, Sung Yun Jung, Lois Gardner, Marie-Anne Shaw, Susan L Hamilton, Philip M Hopkins, Robert T Dirksen, Sheila Riazi, James E Dowling
Variants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility. Nature communications 13 (1) (2022)
Ashish R Deshwar, Cheryl Cytrynbaum, Harsha Murthy, Jessica Zon, David Chitayat, Jonathan Volpatti, Ruth Newbury-Ecob, Sian Ellard, Hana Lango Allen, Emily P Yu, Ramil Noche, Suzi Walker, Stephen W Scherer, Sonal Mahida, Christopher M Elitt, Gaël Nicolas, Alice Goldenberg, Pascale Saugier-Veber, Francois Lecoquierre, Ivana Dabaj, Hannah Meddaugh, Michael Marble, Kim M Keppler-Noreuil, Lucy Drayson, Kristin W Barañano, Anna Chassevent, Katie Agre, Pascaline Létard, Frederic Bilan, Gwenaël Le Guyader, Annie Laquerrière, Keri Ramsey, Lindsay Henderson, Lauren Brady, Mark Tarnopolsky, Matthew Bainbridge, Jennifer Friedman, Yline Capri, Larissa Athayde, Fernando Kok, Juliana Gurgel-Giannetti, Luiza L P Ramos, Susan Blaser, James E Dowling, Rosanna Weksberg
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications. Brain : a journal of neurology (2022)
Karla G Espinosa, Salma Geissah, Linda Groom, Jonathan Volpatti, Ian C Scott, Robert T Dirksen, Mo Zhao, James E Dowling
Characterization of a novel zebrafish model of SPEG-related centronuclear myopathy. Disease models & mechanisms 15 (5) (2022)
Taila Hartley, Élisabeth Soubry, Meryl Acker, Matthew Osmond, Madeline Couse, Meredith K Gillespie, Yoko Ito, Aren E Marshall, Gabrielle Lemire, Lijia Huang, Caitlin Chisholm, Alison J Eaton, E Magda Price, James E Dowling, Arun K Ramani, Roberto Mendoza-Londono, Gregory Costain, Michelle M Axford, Anna Szuto, Vanda McNiven, Nadirah Damseh, Rebekah Jobling, Leanne de Kock, Bahareh A Mojarad, Ted Young, Zhuo Shao, Robin Z Hayeems, Ian D Graham, Mark A Tarnopolsky, Lauren Brady, Christine M Armour, Michael Geraghty, Julie Richer, Sarah Sawyer, Matthew Lines, Saadet Mercimek-Mahmutoglu, Melissa T Carter, Gail Graham, Peter Kannu, Joanna Lazier, Chumei Li, Ritu B Aul, Tugce B Balci, Nomazulu Dlamini, Lauren Badalato, Andrea Guerin, Jagdeep Walia, David Chitayat, Ronald Cohn, Hanna Faghfoury, Cynthia Forster-Gibson, Hernan Gonorazky, Eyal Grunebaum, Michal Inbar-Feigenberg, Natalya Karp, Chantal Morel, Alison Rusnak, Neal Sondheimer, Jodi Warman-Chardon, Priya T Bhola, Danielle K Bourque, Inara Chacon Fonseca, Lauren Chad, Pranesh Chakraborty, Karen Chong, Asif Doja, Elaine Suk-Ying Goh, Maha Saleh, null null, Beth K Potter, Christian R Marshall, David A Dyment, Kristin Kernohan, Kym M Boycott
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data. Clinical genetics (2022)
Sarah J Smith, Lacramioara Fabian, Adeel Sheikh, Ramil Noche, Xiucheng Cui, Steven A Moore, James E Dowling
Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy. Human molecular genetics (2021)
Djurdja Djordjevic, Etsuko Tsuchiya, Megan Fitzpatrick, Neal Sondheimer, James E Dowling
Utility of metabolic screening in neurological presentations of infancy. Annals of clinical and translational neurology 7 (7) (2020)
Lindsay Smith, Lacramioara Fabian, Almundher Al-Maawali, Ramil R Noche, James E Dowling
De novo phosphoinositide synthesis in zebrafish is required for triad formation but not essential for myogenesis. PloS one 15 (8) (2020)
Jonathan R Volpatti, Yukari Endo, Jessica Knox, Linda Groom, Stephanie Brennan, Ramil Noche, William J Zuercher, Peter Roy, Robert T Dirksen, James E Dowling
Identification of drug modifiers for RYR1-related myopathy using a multi-species discovery pipeline. eLife 9 (2020)
Boyang Qiu, Julie Ruston, Henk Granzier, Monica J Justice, James E Dowling
Failure to identify modifiers of NEBULIN-related nemaline myopathy in two pre-clinical models of the disease. Biology open 8 (9) (2019)
Jonathan R Volpatti, Almundher Al-Maawali, Lindsay Smith, Aqeela Al-Hashim, Julie A Brill, James E Dowling
The expanding spectrum of neurological disorders of phosphoinositide metabolism. Disease models & mechanisms 12 (8) (2019)
Matias Casás-Selves, Andrew X Zhang, James E Dowling, Stefan Hallén, Aarti Kawatkar, Nicholas J Pace, Christopher R Denz, Timothy Pontz, Farzin Garahdaghi, Qing Cao, Alan Sabirsh, Kumar Thakur, Nichole O'Connell, Jun Hu, Iván Cornella-Taracido, Eranthie Weerapana, Michael Zinda, Robert A Goodnow, M Paola Castaldi
Target Deconvolution Efforts on Wnt Pathway Screen Reveal Dual Modulation of Oxidative Phosphorylation and SERCA2. ChemMedChem 12 (12) (2017)
James E Dowling, Hernan D Gonorazky, Ronald D Cohn, Craig Campbell
Treating pediatric neuromuscular disorders: The future is now. American journal of medical genetics. Part A 176 (4) (2017)