Results 51 to 60 of about 10,687,918 (152)
Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1 [PDF]
Mutations in the gene encoding myotubularin-related protein 2 (MTMR2) are responsible for autosomal recessive Charcot-Marie-Tooth disease type 4B1 (CMT4B1), a severe hereditary motor and sensory neuropathy characterized by focally folded myelin sheaths ...
Bonneick, Sonja +4 more
core
The myotubularin family of lipid phosphatases in disease and in spermatogenesis
The MTM (myotubularin)/MTMR (myotubularin-related) protein family is comprised of 15 lipid phosphatases, of which nine members are catalytically active.
Cheng, C. Yan +3 more
core +1 more source
ABSTRACT KCa3.1 ion channel is a calcium‐activated potassium channel expressed in various tissues, showing dual localization to the plasma membrane and to mitochondria. This channel is highly expressed in numerous cancers and has been implicated in the regulation of proliferation and migration.
Veronica Carpanese +4 more
wiley +1 more source
Myotubularin is mis-localized in IMGD muscle.
In muscle sections from control dogs, myotubularin is predominantly expressed in type II fibers expressing SERCA1. In affected IMGD dogs, massive myotubularin accumulations formed a concentric network around the fiber center.
Nasim Vasli (418913) +12 more
core +1 more source
Tumor‐derived exosomes influence proliferation, invasion, angiogenesis, metabolic adaptation, and resistance to therapy. They also shape the immune landscape by modulating antigen presentation, suppressing cytotoxic lymphocyte activity, and promoting the expansion of immunosuppressive cell populations. Although frequently associated with immune evasion,
Jiale Li +3 more
wiley +1 more source
Myotubularin-related protein; Leishmania ...
Requena, J (via Mendeley Data)
core +1 more source
Diagnosis of X‐linked myotubular myopathy by detection of myotubularin
Mutations in the MTM1 gene cause X-linked recessive myotubular myopathy (XLMTM; MIM310400). Myotubularin, the implicated protein, is a phosphoinositide phosphatase that belongs to a large protein family conserved through evolution that also includes the ...
Mandel, Jean-Louis +5 more
core +1 more source
The role of myotubularin in cellular morphogenesis [PDF]
Cellular morphogenesis is an important process crucial for the proper function of nearly all cells. Cell shape change is a dynamic and highly regulated process and requires the strict spatial control of numerous cellular processes including cytoskeletal ...
Juan, Joseph
core +1 more source
Myotubular myopathy (MTM1) is an X-linked disease, characterized by severe neonatal hypotonia and generalized muscle weakness, with pathological features suggesting an impairment in maturation of muscle fibres.
Payrastre, Bernard +5 more
core +1 more source
Myotubularin/amphiphysin/dynamin protein functions in specific tissues, based on animal and cell models.
Belinda S. Cowling (127783) +3 more
core +1 more source

