Results 21 to 30 of about 658 (148)

Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy [PDF]

The Journal of Clinical Investigation, 2023
X-linked myotubular myopathy (XLMTM) is a fatal congenital disorder caused by mutations in the MTM1 gene. Currently, there are no approved treatments, although AAV8-mediated gene transfer therapy has shown promise in animal models and preliminarily in ...
Sophie Karolczak, Ashish R. Deshwar, Evangelina Aristegui, Binita M. Kamath, Michael W. Lawlor, Gaia Andreoletti, Jonathan Volpatti, Jillian L. Ellis, Chunyue Yin, James J. Dowling   +9 more
doaj   +2 more sources

Beyond Membrane Remodeling: Organelle Crosstalk and Convergent Pathology in Centronuclear Myopathy [PDF]

Muscles
Centronuclear myopathy (CNM) is a genetically heterogenous congenital myopathy traditionally classified as a membrane remodeling disorder. Emerging evidence reveals that centronuclear myopathy mutations converge upon common cellular dysfunction extending
Bana Abolibdeh, Charles H. Williams
doaj   +2 more sources

Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy [PDF]

Int J Mol Sci, 2022
X-linked myotubular myopathy (XLMTM) is a severe form of centronuclear myopathy, characterized by generalized weakness and respiratory insufficiency, associated with pathogenic variants in the MTM1 gene.
Leone, Daniela, Costa Comellas, Laura, Fattori, Fabiana, Bertini, Enrico, Enrico Bertini, Mauro Monforte, Luca Bosco, Mercuri, Eugenio, Monforte, Mauro, Fabiana Fattori, Daniela Leone, Eugenio Mercuri, D’Amico, Adele, Marika Pane, Pane, Marika, Laura Costa Comellas, Bosco, Luca, Adele D’Amico   +17 more
core   +3 more sources

Identification of a Novel MTM1 Mutation Associated with X-Linked Myotubular Myopathy: Clinical and Molecular Insights for Prenatal Diagnosis [PDF]

International Journal of Women's Health
Shixin Chen,1,* Bin Liang,1,* Na Lin,1 Mian Pan,2 Li Li2 1Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defects, Fujian Maternity and Child Health Hospital, College of Clinical ...
Chen S, Liang B, Lin N, Pan M, Li L
doaj   +2 more sources

Lack of myotubularin phosphatase activity is the main cause of X-linked myotubular myopathy [PDF]

JCI Insight
The MTM1 gene encodes myotubularin (MTM1), a phosphatidylinositol 3-phosphate [PI(3)P] lipid phosphatase. Loss-of-function mutations in MTM1 cause X-linked myotubular myopathy (XLMTM), a severe congenital myopathy with no available cure and a poorly ...
Foteini Moschovaki-Filippidou, Christine Kretz, David Reiss, Gaëtan Chicanne, Bernard Payrastre, Jocelyn Laporte   +5 more
doaj   +2 more sources

Skeletal muscle: molecular structure, myogenesis, biological functions, and diseases [PDF]

MedComm, Volume 5, Issue 7, July 2024.
The article systematically and comprehensively reviews the physiological and pathological processes associated with skeletal muscles from five perspectives: molecule basis, myogenesis, biological function, poststimulation response, and myopathy. We primarily focus on nuclei‐related behaviors of skeletal muscle, cell–cell fusion, and nuclei migration in
Lan‐Ting Feng, Zhi‐Nan Chen, Huijie Bian   +2 more
wiley   +2 more sources

An algorithm for discontinuing mechanical ventilation in boys with x-linked myotubular myopathy after positive response to gene therapy: the ASPIRO experience [PDF]

Respiratory Research
X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital myopathy. Most (80%) children with XLMTM have profound muscle weakness and hypotonia at birth resulting in severe respiratory insufficiency, the inability to sit up, stand or ...
Robert J. Graham, Reshma Amin, Nadir Demirel, Lisa Edel, Charlotte Lilien, Victoria MacBean, Gerrard F. Rafferty, Hemant Sawnani, Carola Schön, Barbara K. Smith, Faiza Syed, Micaela Sarazen, Suyash Prasad, Salvador Rico, Geovanny F. Perez   +14 more
doaj   +2 more sources

Gene therapy for children with X-linked myotubular myopathy: a plain language summary of publication for the ASPIRO study [PDF]

Therapeutic Advances in Rare Disease
What is this summary about? This summary describes the results of a research study (clinical trial) called ASPIRO that was published in the Lancet Neurology in 2023.
Perry B. Shieh, Wendy Hughes, Marie Wood, Alan H. Beggs, Michael W. Lawlor, Julie Coats, Fatbardha Varfaj, Robert J. Graham, Nancy L. Kuntz, James J. Dowling, Wolfgang Müller-Felber, Carsten G. Bönnemann, Ana Buj Bello, Laurent Servais, Vicky MacBean, Francesco Muntoni, A. Reghan Foley, Astrid Blaschek, Emma S. James, Andreea Seferian, Lindsay N. Alfano, Tina Duong, Mojtaba Noursalehi, Weston Miller, Jun Lee, Suyash Prasad, Salvador Rico   +26 more
doaj   +2 more sources

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

Nature Communications, 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 normalizing
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   +10 more
doaj   +2 more sources

Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study. [PDF]

J Neuromuscul Dis
Contains fulltext : 322295.pdf (Publisher’s version ) (Open Access)BACKGROUND: Centronuclear myopathies represent a subset of debilitating genetic disorders, for which no treatment exists.
Voermans, N.C., Cowling, Bs, Voermans, N. C., Lawlor, Mw, Dhawan, A., Eyler, L., Quinlivan, R., Guglieri, M., Lawlor, M.W., Schara-Schmidt, U., Thielemans, L., Freitag, C., Baets, J., Cowling, B.S., Nijkamp, D., Colombo, S., Vissing, J., Montagnese, F., Bouman, K.   +18 more
core   +2 more sources