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

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

Dynamin-2 Stabilizes the HIV-1 Fusion Pore with a Low Oligomeric State

Autor: Daniel M. Jones, Luis A. Alvarez, Rory Nolan, Margarita Ferriz, Raquel Sainz Urruela, Xènia Massana-Muñoz, Hila Novak-Kotzer, Michael L. Dustin, Sergi Padilla-Parra

Publikováno v: Cell Reports, Vol 18, Iss 2, Pp 443-453 (2017)

Summary: One of the key research areas surrounding HIV-1 concerns the regulation of the fusion event that occurs between the virus particle and the host cell during entry. Even if it is universally accepted that the large GTPase dynamin-2 is importan

Externí odkaz: https://doaj.org/article/415fe24fb9b04af6902c654b76ba0c78

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

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

Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to dynamin

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

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

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

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

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