Results 61 to 70 of about 10,687,918 (152)

Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment

, 2012
X-linked myotubular myopathy is a severe congenital myopathy caused by deficiency of the lipid phosphatase, myotubularin. Recent studies of human tissue and animal models have discovered structural and physiological abnormalities in myotubularin ...
Viola, M. G., Gupta, Vandana, Huang, P., Joubert, R., Beggs, Alan, Viola, Marissa, Meng, Hui, Alexander, M. S., Meng, H., Beggs, A. H., Motohashi, Norio, Manfready, R. A., Motohashi, N., Joubert, Romain, Buj-Bello, A., Gupta, V., Huang, Ping, Kunkel, Louis, Lawlor, M. W., Kunkel, L. M., Alexander, Matthew, Hsu, Cynthia, Buj-Bello, Anna, Manfready, Richard, Gussoni, E., Gussoni, Emanuela, Hsu, C. P., Lawlor, Michael   +27 more
core   +1 more source

ISEV2025 Abstract Book

Journal of Extracellular Vesicles, Volume 14, Issue S1, October 2025.
wiley   +1 more source

Biomarkers for diagnosing pulmonary tuberculosis in adolescents: Peripheral blood monocyte myotubularin-related protein 4 and oncostatin M genes

Tuberculosis
Although research has increasingly been focused on pulmonary tuberculosis (PTB) in adolescents, its diagnosis remains complex and challenging. Thus, the use of host transcription markers in the diagnosis of adolescent PTB was evaluated in this study.The study cohort comprised 40 adolescents (aged 14-18 years) with PTB who had received their first PTB ...
Yuxia Sha, Haoquan Zhou, Bingda Yan, Xianzong Da, Meilin Shao, Ye Li, Shenggang Ding   +6 more
openaire   +2 more sources

Protein domains and disease-causing mutations in the myotubularin, amphiphysin, and dynamin families.

, 2012
Myotubularin contains a PH-GRAM domain that may bind lipids and a coil-coiled-PDZ binding site to form homo- and hetero-dimers with other members of the myotubularin family.
Belinda S. Cowling (127783), Jean Muller (13947), Jocelyn Laporte (127789), Anne Toussaint (172930)   +3 more
core   +1 more source

A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs). [PDF]

Ann Neurol, 2019
Pareyson D, Stojkovic T, Reilly MM, Leonard-Louis S, Laurà M, Blake J, Parman Y, Battaloglu E, Tazir M, Bellatache M, Bonello-Palot N, Lévy N, Sacconi S, Guimarães-Costa R, Attarian S, Latour P, Solé G, Megarbane A, Horvath R, Ricci G, Choi BO, Schenone A, Gemelli C, Geroldi A, Sabatelli M, Luigetti M, Santoro L, Manganelli F, Quattrone A, Valentino P, Murakami T, Scherer SS, Dankwa L, Shy ME, Bacon CJ, Herrmann DN, Zambon A, Tramacere I, Pisciotta C, Magri S, Previtali SC, Bolino A.   +41 more
europepmc   +1 more source

Inhibition of Activin Receptor Type IIB Increases Strength and Lifespan in Myotubularin-Deficient Mice

, 2011
International audienceX-linked myotubular myopathy (XLMTM) is a congenital disorder caused by deficiency of the lipid phosphatase, myotubularin. Patients with XLMTM often have severe perinatal weakness that requires mechanical ventilation to prevent ...
Jennifer L. Lachey, Wermer-Colan, Ariana, Ariana Wermer-Colan, Pierson, C. R., Beggs, Alan, Wermer-Colan, A., Seehra, Jasbir, Nicole Yang, Yang, N., Beggs, A. H., Anna Buj-Bello, Yang, Nicole, Pierson, Christopher, Buj-Bello, A., Edelstein, Rachel, Christopher R. Pierson, Stein, M. J., Alan H. Beggs, Edelstein, R., Lawlor, M. W., Stein, Matthew, Lachey, Jennifer, Read, B. P., Buj-Bello, Anna, Rachel Edelstein, Jasbir S. Seehra, Read, Benjamin, Matthew J. Stein, Benjamin P. Read, Lawlor, Michael, Lachey, J. L., Seehra, J. S., Michael W. Lawlor   +32 more
core   +1 more source

Myotubularin-related proteins 3 and 4 interact with polo-like kinase 1 and centrosomal protein of 55 kDa to ensure proper abscission. [PDF]

Mol Cell Proteomics, 2015
St-Denis N, Gupta GD, Lin ZY, Gonzalez-Badillo B, Pelletier L, Gingras AC.   +5 more
europepmc   +1 more source

The Genetic Background of Abnormalities in Metabolic Pathways of Phosphoinositides and Their Linkage with the Myotubular Myopathies, Neurodegenerative Disorders, and Carcinogenesis. [PDF]

Biomolecules, 2023
Derkaczew M, Martyniuk P, Hofman R, Rutkowski K, Osowski A, Wojtkiewicz J.   +5 more
europepmc   +1 more source

Regulation of myotubularin function by the novel 3-phosphatase adapter protein (3-PAP)

Phospholipids are important components of cell membranes. Phospholipids are turned-on by enzymes called kinases and these phospholipids stimulate a variety of critical functions within the cells.

core  

LINF_120008300

Myotubularin-related protein; Leishmania infantum (strain ...
Requena, Jose M.
core   +1 more source