Multi-omics comparisons of different forms of centronuclear myopathies and the effects of several therapeutic strategies

Autor: David Reiss, Christine Kretz, Jocelyn Laporte, Juliana de Carvalho Neves, Julie D. Thompson, Sébastien Freismuth, Xènia Massana-Muñoz, Anne-Sophie Sosson, Alexia Menuet, Olivier M. Dorchies, Céline Keime, Sarah Djerroud, Sarah Djeddi, Wolfgang Raffelsberger

Publikováno v: Mol Ther
Molecular Therapy
Molecular Therapy, Cell Press, 2021, ⟨10.1016/j.ymthe.2021.04.033⟩
Molecular Therapy, 2021, ⟨10.1016/j.ymthe.2021.04.033⟩

Omics analyses are powerful methods to obtain an integrated view of complex biological processes, disease progression, or therapy efficiency. However, few studies have compared different disease forms and different therapy strategies to define the co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e04f22f7df8e530faf543100e4a69899
https://europepmc.org/articles/PMC8353243/

Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice

Autor: Maxime Sartori, Valentina M. Lionello, Christine Kretz, Nadia Messaddeq, Jocelyn Laporte, Yann Herault, Pascale Koebel, Sarah Djerroud, Belinda S. Cowling, Suzie Buono, Anne-Sophie Nicot, Pascal Kessler, Ivana Prokic, Norma B. Romero

Publikováno v: Science Translational Medicine
Science Translational Medicine, 2019, 11 (484), pp.eaav1866. ⟨10.1126/scitranslmed.aav1866⟩
Science Translational Medicine, American Association for the Advancement of Science, 2019, 11 (484), pp.eaav1866. ⟨10.1126/scitranslmed.aav1866⟩

Centronuclear myopathies (CNMs) are severe diseases characterized by muscle weakness and myofiber atrophy. Currently, there are no approved treatments for these disorders. Mutations in the phosphoinositide 3-phosphatase myotubularin (MTM1) are respon

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72e1b3e1f40ad43a304d43e5d8b4aa2a
https://hal.science/hal-02388606