Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Xènia Massana Muñoz"'
Autor:
Xènia Massana Muñoz, Christine Kretz, Roberto Silva-Rojas, Julien Ochala, Alexia Menuet, Norma B. Romero, Belinda S. Cowling, Jocelyn Laporte
Publikováno v:
JCI Insight, Vol 5, Iss 18 (2020)
Classical dynamins are large GTPases regulating membrane and cytoskeleton dynamics, and they are linked to different pathological conditions ranging from neuromuscular diseases to encephalopathy and cancer. Dominant dynamin 2 (DNM2) mutations lead to
Externí odkaz:
https://doaj.org/article/e5e7d2129b1f4bab85670b7dd6c667c7
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
Autor:
Xènia Massana-Muñoz, Marie Goret, Vasugi Nattarayan, David Reiss, Christine Kretz, Gaetan Chicanne, Bernard Payrastre, Bart Vanhaesebroeck, Jocelyn Laporte
Publikováno v:
JCI Insight. 8
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6188adeb18976d8f33852a62691483ee
https://doi.org/10.1172/jci.insight.151933
https://doi.org/10.1172/jci.insight.151933
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
https://pubmed.ncbi.nlm.nih.gov/35217605
Autor:
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
Publikováno v:
Nature communications. 13(1)
Dynamin 2 mechanoenzyme is a key regulator of membrane remodeling and gain-of-function mutations in its gene cause centronuclear myopathies. Here, we investigate the functions of dynamin 2 isoforms and their associated phenotypes and, specifically, t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aebd7501cca75b7779b0b12f3e2b1a5a
https://pubmed.ncbi.nlm.nih.gov/36369230
https://pubmed.ncbi.nlm.nih.gov/36369230
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⟩
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/
https://europepmc.org/articles/PMC8353243/
Autor:
Roberto Silva-Rojas, Xènia Massana Muñoz, Christine Kretz, Julien Ochala, Norma B. Romero, Belinda S. Cowling, Jocelyn Laporte, Alexia Menuet
Publikováno v:
JCI Insight, Vol 5, Iss 18 (2020)
JCI Insight
JCI Insight
Classical dynamins are large GTPases regulating membrane and cytoskeleton dynamics, and they are linked to different pathological conditions ranging from neuromuscular diseases to encephalopathy and cancer. Dominant dynamin 2 (DNM2) mutations lead to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39452124242d8ecc7abb52f8142cc99c
https://doaj.org/article/e5e7d2129b1f4bab85670b7dd6c667c7
https://doaj.org/article/e5e7d2129b1f4bab85670b7dd6c667c7
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
https://doi.org/10.1093/hmg/ddz249
Autor:
E. Gayi, Hesham M. Ismail, Laurent A. Decosterd, Leonardo Scapozza, M. Sierra, Jocelyn Laporte, Belinda S. Cowling, Xènia Massana Muñoz, Olivier M. Dorchies, Thomas Mercier, L. Neff
Publikováno v:
Nature Communications
Nature Communications, vol. 9, no. 1, pp. 4848
Nature Communications, Vol 9, Iss 1, Pp 1-14 (2018)
Nature Communications, 2018, 9 (1), ⟨10.1038/s41467-018-07058-4⟩
Nature Communications, Vol. 9, No 1 (2018) P. 4848
Nature Communications, vol. 9, no. 1, pp. 4848
Nature Communications, Vol 9, Iss 1, Pp 1-14 (2018)
Nature Communications, 2018, 9 (1), ⟨10.1038/s41467-018-07058-4⟩
Nature Communications, Vol. 9, No 1 (2018) P. 4848
X-linked myotubular myopathy (XLMTM, also known as XLCNM) is a severe congenital muscular disorder due to mutations in the myotubularin gene, MTM1. It is characterized by generalized hypotonia, leading to neonatal death of most patients. No specific
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2548f1f15cc74bb43f2722fc3f153140
https://pubmed.ncbi.nlm.nih.gov/30451843
https://pubmed.ncbi.nlm.nih.gov/30451843
Autor:
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
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-20 (2022)
Dynamin 2 is a large GTPase linked to several human diseases. Here, Gómez-Oca et al. investigate the functions of muscle dynamin 2 isoforms and provide insights into their differential implication in centronuclear myopathy pathogenesis and treatment
Externí odkaz:
https://doaj.org/article/684832f01d92429ca6b407420e59785d