Results 1 to 10 of about 10,687,918 (152)

Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish. [PDF]

PLoS Genetics, 2013
X-linked myotubular myopathy (XLMTM) is a congenital disorder caused by mutations of the myotubularin gene, MTM1. Myotubularin belongs to a large family of conserved lipid phosphatases that include both catalytically active and inactive myotubularin ...
Vandana A Gupta, Karim Hnia, Laura L Smith, Stacey R Gundry, Jessica E McIntire, Junko Shimazu, Jessica R Bass, Ethan A Talbot, Leonela Amoasii, Nathaniel E Goldman, Jocelyn Laporte, Alan H Beggs   +11 more
doaj   +7 more sources

Defective membrane remodeling in neuromuscular diseases: insights from animal models. [PDF]

PLoS Genetics, 2012
Proteins involved in membrane remodeling play an essential role in a plethora of cell functions including endocytosis and intracellular transport. Defects in several of them lead to human diseases.
Belinda S Cowling, Anne Toussaint, Jean Muller, Jocelyn Laporte   +3 more
doaj   +3 more sources

Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy.

PLoS Genetics, 2009
Myotubularin is a lipid phosphatase implicated in endosomal trafficking in vitro, but with an unknown function in vivo. Mutations in myotubularin cause myotubular myopathy, a devastating congenital myopathy with unclear pathogenesis and no current ...
James J Dowling, Andrew P Vreede, Sean E Low, Elizabeth M Gibbs, John Y Kuwada, Carsten G Bonnemann, Eva L Feldman   +6 more
doaj   +2 more sources

Recent advances of myotubularin-related (MTMR) protein family in cardiovascular diseases

Frontiers in Cardiovascular Medicine
Belonging to a lipid phosphatase family containing 16 members, myotubularin-related proteins (MTMRs) are widely expressed in a variety of tissues and organs. MTMRs preferentially hydrolyzes phosphatidylinositol 3-monophosphate and phosphatidylinositol (3,
Jia Wang, Jia Wang, Wei Guo, Qiang Wang, Qiang Wang, Yongjian Yang, Xiongshan Sun   +6 more
doaj   +3 more sources

MTMR4 is required for the stability of the Salmonella-containing vacuole

Frontiers in Cellular and Infection Microbiology, 2016
The intracellular pathogen Salmonella enterica servovar Typhimurium (S. typhimurium) modulates the host cell’s phosphoinositide (PI) metabolism to establish its intracellular replicative niche, the Salmonella-containing vacuole (SCV).
Wei Xuan Teo, Markus Charles Kerr, Rohan David Teasdale   +2 more
doaj   +1 more source

Small GTPases and phosphoinositides in the regulatory mechanisms of macropinosome formation and maturation

Frontiers in Physiology, 2014
Macropinosome formation requires the sequential activation of numerous signaling pathways that coordinate the actin-driven formation of plasma membrane protrusions (ruffles) and circular ruffles (macropinocytic cups), followed by the closure of these ...
Youhei eEgami, Tomohiko eTaguchi, Tomohiko eTaguchi, Masashi eMaekawa, Masashi eMaekawa, Hiroyuki eArai, Hiroyuki eArai, Nobukazu eAraki   +7 more
doaj   +1 more source

Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking

Frontiers in Neuroscience, 2019
Charcot-Marie-Tooth type 4 (CMT4) is an autosomal recessive severe form of neuropathy with genetic heterogeneity. CMT4B1 is caused by mutations in the myotubularin-related 2 (MTMR2) gene and as a member of the myotubularin family, the MTMR2 protein is ...
Haicui Wang, Haicui Wang, Ayşe Kaçar Bayram, Rosanne Sprute, Rosanne Sprute, Ozkan Ozdemir, Ozkan Ozdemir, Emily Cooper, Matthias Pergande, Matthias Pergande, Stephanie Efthymiou, Ivana Nedic, Neda Mazaheri, Neda Mazaheri, Katharina Stumpfe, Reza Azizi Malamiri, Gholamreza Shariati, Gholamreza Shariati, Jawaher Zeighami, Nurettin Bayram, Seyed Kianoosh Naghibzadeh, Mohamad Tajik, Mehmet Yaşar, Ahmet Sami Güven, Farah Bibi, Tipu Sultan, Vincenzo Salpietro, Vincenzo Salpietro, Vincenzo Salpietro, Henry Houlden, Hüseyin Per, Hamid Galehdari, Bita Shalbafan, Yalda Jamshidi, Sebahattin Cirak, Sebahattin Cirak   +35 more
doaj   +1 more source

An Model of Charcot-Marie-Tooth Disease Type 4B2 Provides Insight Into the Roles of MTMR13 and MTMR2 in Schwann Cell Myelination

ASN Neuro, 2018
Charcot-Marie-Tooth Disorder Type 4B (CMT4B) is a demyelinating peripheral neuropathy caused by mutations in myotubularin-related (MTMR) proteins 2, 13, or 5 (CMT4B1/2/3), which regulate phosphoinositide turnover and endosomal trafficking. Although mouse
Danielle C. Robinson, Anna E. Mammel, Anne M. Logan, Aubree A. Larson, Eric J. Schmidt, Alec F. Condon, Fred L. Robinson   +6 more
doaj   +1 more source

The role of myotubularin-related lipid phosphatases in cancer pathogenesis

Experimental and Molecular Pathology
Myotubularin-related proteins (MTMRs) comprise a family of lipid phosphatases using phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate as their substrate.
Lenka Doubravská, Marie Macůrková
doaj   +1 more source

Myotubularin-related protein 6 promotes invasion of hepatocellular carcinoma cells by activating the PI3K/AKT/mTOR signaling pathway

陆军军医大学学报
Objective To explore the effect of myotubularin-related protein 6 (MTMR6) on the invasion of hepatocellular carcinoma cell line HepG2 and the potential molecular mechanism.
LIANG Xiao, CHEN Hongyu, PENG Xueqin
doaj   +1 more source