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Keywords: Myotubular myopathy
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Journal Articles

Natural history study and statistical modeling of disease progression in a preclinical model of myotubular myopathy

Open Access
In collection:
Neuromuscular Disease
Suzie Buono, Arnaud Monseur, Alexia Menuet, Anne Robé, Catherine Koch, Jocelyn Laporte, Leen Thielemans, Marion Depla, Belinda S. Cowling
Journal: Disease Models & Mechanisms
Dis Model Mech (2022) 15 (7): dmm049284.
https://doi.org/10.1242/dmm.049284
Published: 25 July 2022
... longitudinal–survival modeling of the progressive phenotype observed in Mtm1 −/y mice, a reliable model for myotubular myopathy. Analysis of historical data was used to generate a model for phenotype progression, which was then confirmed with phenotypic data from a new colony of mice derived via in vitro...
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Includes: Supplementary data
Journal Articles

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

Open Access
In collection:
Neuromuscular Disease
Ege Sarikaya, Nesrin Sabha, Jonathan Volpatti, Emanuela Pannia, Nika Maani, Hernan D. Gonorazky, Alper Celik, Yijng Liang, Paula Onofre-Oliveira, James J. Dowling
Journal: Disease Models & Mechanisms
Dis Model Mech (2022) 15 (7): dmm049342.
https://doi.org/10.1242/dmm.049342
Published: 25 July 2022
...Ege Sarikaya; Nesrin Sabha; Jonathan Volpatti; Emanuela Pannia; Nika Maani; Hernan D. Gonorazky; Alper Celik; Yijng Liang; Paula Onofre-Oliveira; James J. Dowling ABSTRACT X-linked myotubular myopathy (XLMTM) is a severe monogenetic disorder of the skeletal muscle. It is caused by loss...
View articletitled, Natural history of a mouse model of X-linked myotubular myopathy
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Includes: Supplementary data
Journal Articles

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

Open Access
In collection:
Neuromuscular Disease
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
Journal: Disease Models & Mechanisms
Dis Model Mech (2020) 13 (11): dmm044354.
https://doi.org/10.1242/dmm.044354
Published: 24 November 2020
... and muscle-specific isoforms. It is shown here that ubiquitous isoforms are necessary for muscle development, whereas muscle-specific isoforms fine-tune muscle regeneration. Myotubular myopathy Centronuclear myopathy XLMTM SH3 domain BAR domain Myotonic dystrophy Triad Dynamin Myoblast fusion...
View articletitled, Differential physiological roles for BIN1 isoforms in skeletal muscle development, function and regeneration
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Includes: Supplementary data