Search Results - "Volpatti, Jonathan R"

The expanding spectrum of neurological disorders of phosphoinositide metabolism by Volpatti, Jonathan R, Al-Maawali, Almundher, Smith, Lindsay, Al-Hashim, Aqeela, Brill, Julie A, Dowling, James J

“…Phosphoinositides (PIPs) are a ubiquitous group of seven low-abundance phospholipids that play a crucial role in defining localized membrane properties and…”
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Identification of drug modifiers for RYR1-related myopathy using a multi-species discovery pipeline by Volpatti, Jonathan R, Endo, Yukari, Knox, Jessica, Groom, Linda, Brennan, Stephanie, Noche, Ramil, Zuercher, William J, Roy, Peter, Dirksen, Robert T, Dowling, James J

“…Ryanodine receptor type I-related myopathies (RYR1-RMs) are a common group of childhood muscle diseases associated with severe disabilities and early mortality…”
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Egg-laying and locomotory screens with C. elegans yield a nematode-selective small molecule stimulator of neurotransmitter release by Harrington, Sean, Knox, Jessica J., Burns, Andrew R., Choo, Ken-Loon, Au, Aaron, Kitner, Megan, Haeberli, Cecile, Pyche, Jacob, D’Amata, Cassandra, Kim, Yong-Hyun, Volpatti, Jonathan R., Guiliani, Maximillano, Snider, Jamie, Wong, Victoria, Palmeira, Bruna M., Redman, Elizabeth M., Vaidya, Aditya S., Gilleard, John S., Stagljar, Igor, Cutler, Sean R., Kulke, Daniel, Dowling, James J., Yip, Christopher M., Keiser, Jennifer, Zasada, Inga, Lautens, Mark, Roy, Peter J.

“…Nematode parasites of humans, livestock and crops dramatically impact human health and welfare. Alarmingly, parasitic nematodes of animals have rapidly evolved…”
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Selective control of parasitic nematodes using bioactivated nematicides by Burns, Andrew R., Baker, Rachel J., Kitner, Megan, Knox, Jessica, Cooke, Brittany, Volpatti, Jonathan R., Vaidya, Aditya S., Puumala, Emily, Palmeira, Bruna M., Redman, Elizabeth M., Snider, Jamie, Marwah, Sagar, Chung, Sai W., MacDonald, Margaret H., Tiefenbach, Jens, Hu, Chun, Xiao, Qi, Finney, Constance A. M., Krause, Henry M., MacParland, Sonya A., Stagljar, Igor, Gilleard, John S., Cowen, Leah E., Meyer, Susan L. F., Cutler, Sean R., Dowling, James J., Lautens, Mark, Zasada, Inga, Roy, Peter J.

“…Parasitic nematodes are a major threat to global food security, particularly as the world amasses 10 billion people amid limited arable land 1 – 4 . Most…”
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PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models by Sabha, Nesrin, Volpatti, Jonathan R, Gonorazky, Hernan, Reifler, Aaron, Davidson, Ann E, Li, Xingli, Eltayeb, Nadine M, Dall'Armi, Claudia, Di Paolo, Gilbert, Brooks, Susan V, Buj-Bello, Ana, Feldman, Eva L, Dowling, James J

“…Myotubular myopathy (MTM) is a devastating pediatric neuromuscular disorder of phosphoinositide (PIP) metabolism resulting from mutations of the PIP…”
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X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition by Volpatti, Jonathan R., Ghahramani-Seno, Mehdi M., Mansat, Mélanie, Sabha, Nesrin, Sarikaya, Ege, Goodman, Sarah J., Chater-Diehl, Eric, Celik, Alper, Pannia, Emanuela, Froment, Carine, Combes-Soia, Lucie, Maani, Nika, Yuki, Kyoko E., Chicanne, Gaëtan, Uusküla-Reimand, Liis, Monis, Simon, Alvi, Sana Akhtar, Genetti, Casie A., Payrastre, Bernard, Beggs, Alan H., Bonnemann, Carsten G., Muntoni, Francesco, Wilson, Michael D., Weksberg, Rosanna, Viaud, Julien, Dowling, James J.

“…X-linked myotubular myopathy (XLMTM) is a fatal neuromuscular disorder caused by loss of function mutations in MTM1 . At present, there are no directed…”
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Signs and Symptoms in Congenital Myopathies by Gonorazky, Hernan D., Dowling, James J., Volpatti, Jonathan R., Vajsar, Jiri

“…Congenital myopathies (CM) represent a continuously growing group of disorders with a wide range of clinical and histopathologic presentations. The refinement…”
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Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy by Karolczak, Sophie, Deshwar, Ashish R, Aristegui, Evangelina, Kamath, Binita M, Lawlor, Michael W, Andreoletti, Gaia, Volpatti, Jonathan R, Ellis, Jillian L, Yin, Chunyue, Dowling, James J

“…X-linked myotubular myopathy (XLMTM) is a fatal congenital disorder caused by mutations in the MTM1 gene. Currently, there are no approved treatments, though…”
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