Results 111 to 120 of about 2,993 (188)

Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype

, 2011
International audienceX-linked myotubular myopathy (MTM) is a severe neuromuscular disease of infancy caused by mutations of MTM1, which encodes the phosphoinositide lipid phosphatase, myotubularin. The Mtm1 knockout (KO) mouse has a severe phenotype and
Marshall, Morgan, Marshall, Jordan, Morgan L. Marshall, Pierson, C. R., Gladman, J. T., Beggs, Alan, Gladman, Jordan, Jordan T. Marshall, Beggs, A. H., Dulin-Smith, Ashley, Anna Buj-Bello, Durban, Ashley, Dowling, James, Pierson, Christopher, Dawn S. Chandler, Buj-Bello, A., Christopher R. Pierson, Dulin-Smith, A. N., Snyder, A. D., Alan H. Beggs, Andrew D. Snyder, Ashley N. Dulin-Smith, Ashley N. Durban, Lawlor, M. W., Durban, A. N., Marshall, J. T., Buj-Bello, Anna, James J. Dowling, Snyder, Andrew, Naiyer, Nada, Chandler, D. S., Jordan T. Gladman, Chandler, Dawn, Naiyer, N., Dowling, J. J., Marshall, M. L., Nada Naiyer, Lawlor, Michael, Michael W. Lawlor   +38 more
core   +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  

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase

, 2009
Skeletal muscle contraction is triggered by the excitation-contra-ction (E-C) coupling machinery residing at the triad, a membrane structure formed by the juxtaposition of T-tubules and sarcoplasmic reticulum (SR) cisternae. The formation and maintenance
Sanoudou, D., Weiss, N., Al-Qusairi, L., Beggs, A.H., Mandel, J.-L., Kretz, C., Berbey, C., Allard, B., Laporte, J., Jacquemond, V., Toussaint, A., Messaddeq, N., Buj-Bello, A.   +12 more
core   +1 more source

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

Muscles
Abolibdeh B, Williams CH.
europepmc   +1 more source

LINF_120008300

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

Phosphorylation dynamics of sodium-independent organic anion transporter SLCO4A1 and its role in diseases: a review. [PDF]

Front Syst Biol
Thomas J, Subair S, Mahin A, Gopalakrishnan AP, Shivamurthy PB, Rajeev AC, Raju R.   +6 more
europepmc   +1 more source

Effects of Mulberry Leaf Extract on the Growth Performance, Organ Indices, Flesh Quality, Collagen Metabolism, and Myofiber Development of Grass Carp (<i>Ctenopharyngodon idella</i>). [PDF]

Int J Mol Sci
Lin Y, Song Q, Sun X, Jiang W, Lu S, Gu Z, Miao L.   +6 more
europepmc   +1 more source

Myosin inhibition partially rescues the myofiber proteome in X-linked myotubular myopathy. [PDF]

JCI Insight
Gerlach Melhedegaard E, Rostedt F, Gineste C, Seaborne RA, Dugdale HF, Belhac V, Zanoteli E, Lawlor MW, Mack DL, Wallgren-Pettersson C, Hessel AL, Jungbluth H, Laporte J, Saito Y, Nishino I, Ochala J, Laitila J.   +16 more
europepmc   +1 more source

Inevitable Posterior Lower Segment Cesarean Section Due to Irreducible Uterine Torsion in a Woman Carrying X-Linked Myotubular Myopathy: A Case Report. [PDF]

Cureus
Elzewawi NM, Almandeel AA, Aldossary GF, Elawad MM, Alqahtani KZ.   +4 more
europepmc   +1 more source

Integrative Multi-Omics and Network Analyses Reveal Pathogenic and Protective Pathways in Centronuclear Myopathies. [PDF]

Int J Mol Sci
Simon A, Gineste C, Reiss D, Thompson JD, Laporte J.   +4 more
europepmc   +1 more source