Results 121 to 130 of about 10,687,918 (152)

Expression, Purification, Crystallization and Preliminary Crystallographic Analysis of Human Myotubularin-Related Protein 3 [PDF]

open access: yesActa Crystallographica Section F, Structural Biology Communications, 2014
Myotubularin-related proteins are a large family of phosphatases that have the catalytic activity of dephosphorylating the phospholipid molecules phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate. Each of the 14 family members contains a phosphatase catalytic domain, which is inactive in six family members owing to amino-acid ...
Jee Un Lee, Seung Jun Kim, Yong-Seok Heo
exaly   +4 more sources

Identification and Localization of a New Human Myotubularin-Related Protein Gene, MTMR8, on 8p22–p23

open access: yesGenomics, 2001
Myotubularin and myotubularin-related proteins are dual-specificity phosphatases. Several myotubularin-related proteins have been identified in humans and mice. The members of the myotubularin protein family are highly conserved, from humans to yeast. Mutations in the human myotubularin gene (MTM1) lead to X-linked myotubular myopathy.
Hans Christian Hennies   +2 more
exaly   +4 more sources

Characterization of Myotubularin-Related Protein 7 and Its Binding Partner, Myotubularin-Related Protein 9 [PDF]

open access: yesProceedings of the National Academy of Sciences of the United States of America, 2003
Myotubularin-related protein 7 (MTMR7) is a member of the myotubularin (MTM) family. The cDNA encoding the mouse MTMR7 contains 1,983 bp, and the predicted protein has a deduced molecular mass of 75.6 kDa. Northern and Western blot analyses showed that MTMR7 is expressed mainly in brain and mouse neuroblastoma N1E-115 cells ...
Philip Majerus, Yasuhiro Mochizuki
exaly   +11 more sources

Myotubularin-Related Protein Protects Against Neuronal Degeneration Mediated by Oxidative Stress or Infection [PDF]

open access: yesJournal of Biological Chemistry, 2022
Microbial infections have been linked to the onset and severity of neurodegenerative diseases such as amyotrophic lateral sclerosis, multiple sclerosis, Alzheimer's disease, but the underlying mechanisms remain largely unknown. Here, we used a genetic screen for genes involved in protection from infection-associated neurodegeneration and identified the
Yu Sang, Alejandro Aballay
exaly   +3 more sources

Multi-Level Regulation of Myotubularin-Related Protein-2 Phosphatase Activity by Myotubularin-Related Protein-13/Set-Binding Factor-2. [PDF]

open access: yesHuman Molecular Genetics, 2006
Mutations in myotubularin-related protein-2 (MTMR2) or MTMR13/set-binding factor-2 (SBF2) genes are responsible for the severe autosomal recessive hereditary neuropathies, Charcot-Marie-Tooth disease (CMT) types 4B1 and 4B2, both characterized by reduced nerve conduction velocities, focally folded myelin sheaths and demyelination.
Imre Berger   +2 more
exaly   +4 more sources

Crystallization and Preliminary X-Ray Crystallographic Analysis of Human Myotubularin-Related Protein 1 [PDF]

open access: yesActa Crystallographica Section F, Structural Biology Communications, 2015
Myotubularin-related protein 1 is a phosphatase that dephosphorylates phospholipids such as phosphatidylinositol 3-phosphate or phosphatidylinositol 3,5-bisphosphate. In this study, human MTMR1 was overexpressed inEscherichia coli, purified and crystallized at 277 K using polyethylene glycol 20 000 as a precipitant. Diffraction data were collected to 2.
Seung Jun Kim   +2 more
exaly   +3 more sources
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Association of SET Domain and Myotubularin-Related Proteins Modulates Growth Control

Nature Genetics, 1998
Several proteins that contribute to epigenetic mechanisms of gene regulation contain a characteristic motif of unknown function called the SET (Suvar3-9, Enhancer-of-zeste, Trithorax) domain. We have demonstrated that SET domains mediate highly conserved interactions with a specific family of proteins that display similarity with dual-specificity ...
Michael L Cleary   +2 more
exaly   +3 more sources

Human Myotubularin-Related Protein 9 Regulates ER-to-Golgi Trafficking and Modulates WNT3A Secretion [PDF]

open access: yesExperimental Cell Research, 2020
Regulation of phosphatidylinositol phosphates plays a crucial role in signal transduction, membrane trafficking or autophagy. Members of the myotubularin family of lipid phosphatases contribute to phosphoinositide metabolism by counteracting the activity of phosphoinositide kinases.
Lenka Doubravska   +2 more
exaly   +5 more sources

Myotubularin Related Protein 7 Is Essential for the Spermatogonial Stem Cell Homeostasis via PI3K/AKT Signaling [PDF]

open access: yesCell Cycle, 2019
Myotubularin related protein 7 (MTMR7), a key member of the MTMR family, depicts phosphatase activity and is involved in myogenesis and tumor growth. We have previously identified MTMR7 in the proteomic profile of mouse spermatogonial stem cell (SSC) maturation and differentiation, implying that MTMR7 is associated with neonatal testicular development.
Bo Zheng, Yueshuai Guo, Yan Yuan
exaly   +3 more sources

A Novel Homozygous Missense Mutation in the Myotubularin-Related Protein 2 Gene Associated With Recessive Charcot–Marie–Tooth Disease With Irregularly Folded Myelin Sheaths

open access: yesNeuromuscular Disorders, 2002
Mutations in the myotubularin-related protein 2 gene on chromosome 11q22 are known to cause autosomal recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths.
Vincent Timmerman   +2 more
exaly   +2 more sources

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