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

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

Publikováno v: JCI Insight, Vol 8, Iss 9 (2023)

Phosphoinositides (PIs) are membrane lipids that regulate signal transduction and vesicular trafficking. X-linked centronuclear myopathy (XLCNM), also called myotubular myopathy, results from loss-of-function mutations in the MTM1 gene, which encodes

Externí odkaz: https://doaj.org/article/7c87ab32f731424ea2d18197b699faec

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

Autor: 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

Publikováno v: Nature Communications, Vol 9, Iss 1, Pp 1-14 (2018)

X-linked myotubular myopathy (XLMTM) is a severe muscle disease with no effective treatment. Here, the authors show that tamoxifen, a drug used to treat breast cancer, rescues the pathology in a mouse model of the disease, at least in part by normali

Externí odkaz: https://doaj.org/article/55e31f0f62ce4d928b4e2b13a82b1d60

BIN1 modulation in vivo rescues dynamin-related myopathy

Autor: Valentina Maria Lionello, Christine Kretz, Evelina Edelweiss, Corinne Crucifix, Raquel Gómez-Oca, Nadia Messaddeq, Suzie Buono, Pascale Koebel, Xènia Massana Muñoz, Nadège Diedhiou, Belinda S. Cowling, Marc Bitoun, Jocelyn Laporte

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America. 119(9)

Significance Membrane remodeling and trafficking is essential for intracellular organization under normal conditions and can be altered in a plethora of diseases. Here we characterized the action of amphiphysin (BIN1) and dynamin (DNM2), two main reg

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56a47859f93f44c1fbc97c308f4bd117
https://pubmed.ncbi.nlm.nih.gov/35217605

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/

Different in vivo impact of Dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or Centronuclear Myopathy

Autor: Xènia Massana Muñoz, Jocelyn Laporte, Belinda S. Cowling, Pascale Koebel, Suzie Buono

Publikováno v: Human Molecular Genetics.

Dynamin 2 (DNM2) is a ubiquitously expressed GTPase implicated in many cellular functions such as membrane trafficking and cytoskeleton regulation. Dominant mutations in DNM2 result in tissue specific diseases affecting peripheral nerves (Charcot-Mar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f07dd36937b1535c5f9b486203053d9a
https://doi.org/10.1093/hmg/ddz249