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Select item 111617991.

MTM1-mediated production of phosphatidylinositol 5-phosphate fuels the formation of podosome-like protrusions regulating myoblast fusion

Mélanie Mansat, Afi Oportune Kpotor, Gaëtan Chicanne, Mélanie Picot, Anne Mazars, Rémy Flores-Flores, Bernard Payrastre, Karim Hnia, Julien Viaud

Proc Natl Acad Sci U S A. 2024 Jun 4; 121(23): e2217971121. Published online 2024 May 28. doi: 10.1073/pnas.2217971121

PMCID:: PMC11161799

Abstract Article PDF–8.5M

Select item 102437992.

Inactivating the lipid kinase activity of PI3KC2β is sufficient to rescue myotubular myopathy in mice

Xènia Massana-Muñoz, Marie Goret, Vasugi Nattarayan, David Reiss, Christine Kretz, Gaetan Chicanne, Bernard Payrastre, Bart Vanhaesebroeck, Jocelyn Laporte

JCI Insight. 2023 May 8; 8(9): e151933. Published online 2023 May 8. doi: 10.1172/jci.insight.151933

PMCID:: PMC10243799

Abstract Article PDF–20M

Select item 101072873.

Disrupted T‐tubular network accounts for asynchronous calcium release in MTM1‐deficient skeletal muscle

Peter Szentesi, Beatrix Dienes, Candice Kutchukian, Tamas Czirjak, Ana Buj‐Bello, Vincent Jacquemond, László Csernoch

J Physiol. 2023 Jan 1; 601(1): 99–121. Published online 2022 Dec 8. doi: 10.1113/JP283650

PMCID:: PMC10107287

Abstract Article PDF–6.0M

Select item 96523934.

Differential impact of ubiquitous and muscle dynamin 2 isoforms in muscle physiology and centronuclear myopathy

Raquel Gómez-Oca, Evelina Edelweiss, Sarah Djeddi, Mathias Gerbier, Xènia Massana-Muñoz, Mustapha Oulad-Abdelghani, Corinne Crucifix, Coralie Spiegelhalter, Nadia Messaddeq, Pierre Poussin-Courmontagne, Pascale Koebel, Belinda S. Cowling, Jocelyn Laporte

Nat Commun. 2022; 13: 6849. Published online 2022 Nov 11. doi: 10.1038/s41467-022-34490-4

PMCID:: PMC9652393

Abstract Article PDF–13M

Select item 93465355.

Natural history of a mouse model of X-linked myotubular myopathy

Ege Sarikaya, Nesrin Sabha, Jonathan Volpatti, Emanuela Pannia, Nika Maani, Hernan D. Gonorazky, Alper Celik, Yijng Liang, Paula Onofre-Oliveira, James J. Dowling

Dis Model Mech. 2022 Jul 1; 15(7): dmm049342. Published online 2022 Jul 25. doi: 10.1242/dmm.049342

PMCID:: PMC9346535

Abstract Article

Select item 79387706.

BraInMap elucidates the macromolecular connectivity landscape of mammalian brain

Reza Pourhaghighi, Peter E. A. Ash, Sadhna Phanse, Florian Goebels, Lucas Z. M. Hu, Siwei Chen, Yingying Zhang, Shayne D. Wierbowski, Samantha Boudeau, Mohamed T. Moutaoufik, Ramy H. Malty, Edyta Malolepsza, Kalliopi Tsafou, Aparna Nathan, Graham Cromar, Hongbo Guo, Ali Al Abdullatif, Daniel J. Apicco, Lindsay A. Becker, Aaron D. Gitler, Stefan M. Pulst, Ahmed Youssef, Ryan Hekman, Pierre C. Havugimana, Carl A. White, Benjamin C. Blum, Antonia Ratti, Camron D. Bryant, John Parkinson, Kasper Lage, Mohan Babu, Haiyuan Yu, Gary D. Bader, Benjamin Wolozin, Andrew Emili

Cell Syst. Author manuscript; available in PMC 2021 Apr 22.

Published in final edited form as: Cell Syst. 2020 Apr 22; 10(4): 333–350.e14. doi: 10.1016/j.cels.2020.03.003

Correction in:: Cell Syst. 2020 Aug 26; 11(2): 208.

PMCID:: PMC7938770

Abstract Article PDF–2.0M

Select item 77100167.

Differential physiological roles for BIN1 isoforms in skeletal muscle development, function and regeneration

Ivana Prokic, Belinda S. Cowling, Candice Kutchukian, Christine Kretz, Hichem Tasfaout, Vincent Gache, Josiane Hergueux, Olivia Wendling, Arnaud Ferry, Anne Toussaint, Christos Gavriilidis, Vasugi Nattarayan, Catherine Koch, Jeanne Lainé, Roy Combe, Laurent Tiret, Vincent Jacquemond, Fanny Pilot-Storck, Jocelyn Laporte

Dis Model Mech. 2020 Nov 1; 13(11): dmm044354. Published online 2020 Nov 24. doi: 10.1242/dmm.044354

PMCID:: PMC7710016

Abstract Article

Select item 75744618.

Jacob A. Ross, Hichem Tasfaout, Yotam Levy, Jennifer Morgan, Belinda S. Cowling, Jocelyn Laporte, Edmar Zanoteli, Norma B. Romero, Dawn A. Lowe, Heinz Jungbluth, Michael W. Lawlor, David L. Mack, Julien Ochala

Acta Neuropathol Commun. 2020; 8: 167. Published online 2020 Oct 19. doi: 10.1186/s40478-020-01048-8

PMCID:: PMC7574461

Abstract Article PDF–5.5M

Select item 62627779.

LCP1 preferentially binds clasped αMβ2 integrin and attenuates leukocyte adhesion under flow

Hui-yuan Tseng, Anna V. Samarelli, Patricia Kammerer, Sarah Scholze, Tilman Ziegler, Roland Immler, Roy Zent, Markus Sperandio, Charles R. Sanders, Reinhard Fässler, Ralph T. Böttcher

J Cell Sci. 2018 Nov 15; 131(22): jcs218214. Published online 2018 Nov 21. doi: 10.1242/jcs.218214

PMCID:: PMC6262777

Abstract Article

Select item 624301310.

Tamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy

Elinam Gayi, Laurence A. Neff, Xènia Massana Muñoz, Hesham M. Ismail, Marta Sierra, Thomas Mercier, Laurent A. Décosterd, Jocelyn Laporte, Belinda S. Cowling, Olivier M. Dorchies, Leonardo Scapozza

Nat Commun. 2018; 9: 4848. Published online 2018 Nov 19. doi: 10.1038/s41467-018-07058-4

PMCID:: PMC6243013

Abstract Article PDF–3.8M

Select item 624282311.

Tamoxifen therapy in a murine model of myotubular myopathy

Nika Maani, Nesrin Sabha, Kamran Rezai, Arun Ramani, Linda Groom, Nadine Eltayeb, Faranak Mavandadnejad, Andrea Pang, Giulia Russo, Michael Brudno, Volker Haucke, Robert T. Dirksen, James J. Dowling

Nat Commun. 2018; 9: 4849. Published online 2018 Nov 19. doi: 10.1038/s41467-018-07057-5

PMCID:: PMC6242823

Abstract Article PDF–4.5M

Select item 570943012.

Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches

Virginie Mariot, Romain Joubert, Christophe Hourdé, Léonard Féasson, Michael Hanna, Francesco Muntoni, Thierry Maisonobe, Laurent Servais, Caroline Bogni, Rozen Le Panse, Olivier Benvensite, Tanya Stojkovic, Pedro M. Machado, Thomas Voit, Ana Buj-Bello, Julie Dumonceaux

Nat Commun. 2017; 8: 1859. Published online 2017 Nov 30. doi: 10.1038/s41467-017-01486-4

PMCID:: PMC5709430

Abstract Article PDF–989K

Select item 546724713.

Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice

Hichem Tasfaout, Suzie Buono, Shuling Guo, Christine Kretz, Nadia Messaddeq, Sheri Booten, Sarah Greenlee, Brett P. Monia, Belinda S. Cowling, Jocelyn Laporte

Nat Commun. 2017; 8: 15661. Published online 2017 Jun 7. doi: 10.1038/ncomms15661

PMCID:: PMC5467247

Abstract Article PDF–2.6M

Select item 500494214.

PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models

Nesrin Sabha, Jonathan R. Volpatti, Hernan Gonorazky, Aaron Reifler, Ann E. Davidson, Xingli Li, Nadine M. Eltayeb, Claudia Dall’Armi, Gilbert Di Paolo, Susan V. Brooks, Ana Buj-Bello, Eva L. Feldman, James J. Dowling

J Clin Invest. 2016 Sep 1; 126(9): 3613–3625. Published online 2016 Aug 22. doi: 10.1172/JCI86841

PMCID:: PMC5004942

Abstract Article PDF–5.2M

Select item 412940615.

SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy

Pankaj B. Agrawal, Christopher R. Pierson, Mugdha Joshi, Xiaoli Liu, Gianina Ravenscroft, Behzad Moghadaszadeh, Tiffany Talabere, Marissa Viola, Lindsay C. Swanson, Göknur Haliloğlu, Beril Talim, Kyle S. Yau, Richard J.N. Allcock, Nigel G. Laing, Mark A. Perrella, Alan H. Beggs

Am J Hum Genet. 2014 Aug 7; 95(2): 218–226. doi: 10.1016/j.ajhg.2014.07.004

PMCID:: PMC4129406

Abstract Article PDF–4.0M

Select item 410519716.

Gene Therapy Prolongs Survival and Restores Function in Murine and Canine Models of Myotubular Myopathy

Martin K Childers, Romain Joubert, Karine Poulard, Christelle Moal, Robert W Grange, Jonathan A Doering, Michael W Lawlor, Branden E. Rider, Thibaud Jamet, Nathalie Danièle, Samia Martin, Christel Rivière, Thomas Soker, Caroline Hammer, Laetitia Van Wittenberghe, Mandy Lockard, Xuan Guan, Melissa Goddard, Erin Mitchell, Jane Barber, J. Koudy Williams, David L Mack, Mark E Furth, Alban Vignaud, Carole Masurier, Fulvio Mavilio, Philippe Moullier, Alan H Beggs, Anna Buj-Bello

Sci Transl Med. Author manuscript; available in PMC 2014 Jul 22.

Published in final edited form as: Sci Transl Med. 2014 Jan 22; 6(220): 220ra10. doi: 10.1126/scitranslmed.3007523

PMCID:: PMC4105197

Abstract Article PDF–3.6M

Select item 404471217.

Differential Muscle Hypertrophy Is Associated with Satellite Cell Numbers and Akt Pathway Activation Following Activin Type IIB Receptor Inhibition in Mtm1 p.R69C Mice

Michael W. Lawlor, Marissa G. Viola, Hui Meng, Rachel V. Edelstein, Fujun Liu, Ke Yan, Elizabeth J. Luna, Alexandra Lerch-Gaggl, Raymond G. Hoffmann, Christopher R. Pierson, Anna Buj-Bello, Jennifer L. Lachey, Scott Pearsall, Lin Yang, Cecilia J. Hillard, Alan H. Beggs

Am J Pathol. 2014 Jun; 184(6): 1831–1842. doi: 10.1016/j.ajpath.2014.03.003

PMCID:: PMC4044712

Abstract Article PDF–1.9M

Select item 393826818.

Reducing dynamin 2 expression rescues X-linked centronuclear myopathy

Belinda S. Cowling, Thierry Chevremont, Ivana Prokic, Christine Kretz, Arnaud Ferry, Catherine Coirault, Olga Koutsopoulos, Vincent Laugel, Norma B. Romero, Jocelyn Laporte

J Clin Invest. 2014 Mar 3; 124(3): 1350–1363. Published online 2014 Feb 24. doi: 10.1172/JCI71206

PMCID:: PMC3938268

Abstract Article PDF–6.4M

Select item 380723119.

The myotubularin–amphiphysin 2 complex in membrane tubulation and centronuclear myopathies

Barbara Royer, Karim Hnia, Christos Gavriilidis, Hélène Tronchère, Valérie Tosch, Jocelyn Laporte

EMBO Rep. 2013 Oct; 14(10): 907–915. Published online 2013 Aug 6. doi: 10.1038/embor.2013.119

PMCID:: PMC3807231

Abstract Article PDF–1.4M

Select item 360583020.

Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy

Michael W. Lawlor, Dustin Armstrong, Marissa G. Viola, Jeffrey J. Widrick, Hui Meng, Robert W. Grange, Martin K. Childers, Cynthia P. Hsu, Michael O'Callaghan, Christopher R. Pierson, Anna Buj-Bello, Alan H. Beggs

Hum Mol Genet. 2013 Apr 15; 22(8): 1525–1538. Published online 2013 Jan 9. doi: 10.1093/hmg/ddt003

PMCID:: PMC3605830

Abstract Article PDF–1.2M

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