Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases
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In celiac disease, a subset of autoantibodies against transglutaminase binds toll-like receptor 4 and induces activation of monocytesPathogenic mechanisms in centronuclear myopathiesMTMR4 attenuates transforming growth factor beta (TGFbeta) signaling by dephosphorylating R-Smads in endosomesThe phosphatidylinositol 3-phosphate phosphatase myotubularin- related protein 6 (MTMR6) is a negative regulator of the Ca2+-activated K+ channel KCa3.1The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth diseaseMolecular basis for substrate recognition by MTMR2, a myotubularin family phosphoinositide phosphatase.Phosphatidylinositol-3 phosphatase myotubularin-related protein 6 negatively regulates CD4 T cellsMutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4HIdentification of mitogen-activated protein kinase docking sites in enzymes that metabolize phosphatidylinositols and inositol phosphates.Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species ComparisonsDefective membrane remodeling in neuromuscular diseases: insights from animal modelsPhosphoinositides: tiny lipids with giant impact on cell regulationLoss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathyMTM-6, a phosphoinositide phosphatase, is required to promote synapse formation in Caenorhabditis elegansCaenorhabditis elegans myotubularin MTM-1 negatively regulates the engulfment of apoptotic cellsStructure of the catalytic phosphatase domain of MTMR8: implications for dimerization, membrane association and reversible oxidationEssential role for the myotubularin-related phosphatase Ymr1p and the synaptojanin-like phosphatases Sjl2p and Sjl3p in regulation of phosphatidylinositol 3-phosphate in yeast.Crystal Structure of Human Myotubularin-Related Protein 1 Provides Insight into the Structural Basis of Substrate SpecificityMutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathyMutations in dynamin 2 cause dominant centronuclear myopathyAAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasisThe inositol phosphatase MTMR4 is a novel target of the ubiquitin ligase Nedd4Centronuclear myopathy in mice lacking a novel muscle-specific protein kinase transcriptionally regulated by MEF2Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2A phylogenetic survey of myotubularin genes of eukaryotes: distribution, protein structure, evolution, and gene expressionControl of autophagy initiation by phosphoinositide 3-phosphatase JumpyCooperation of Mtmr8 with PI3K regulates actin filament modeling and muscle development in zebrafishPhosphatidylinositol 5-phosphate links dehydration stress to the activity of ARABIDOPSIS TRITHORAX-LIKE factor ATX1.Phosphoinositide phosphatases in cell biology and disease.A genome-wide siRNA screen identifies novel phospho-enzymes affecting Wnt/β-catenin signaling in mouse embryonic stem cells.The role of PI3P phosphatases in the regulation of autophagyExpression, purification, crystallization and preliminary crystallographic analysis of human myotubularin-related protein 3Crystallization and preliminary X-ray crystallographic analysis of the PH-GRAM domain of human MTMR4Disruption of an EHMT1-associated chromatin-modification module causes intellectual disabilityPhosphatidylinositol 3-phosphate indirectly activates KCa3.1 via 14 amino acids in the carboxy terminus of KCa3.1.The ubiquitin ligase Nedd4-1 participates in denervation-induced skeletal muscle atrophy in mice.Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation.T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases.Crystallization and preliminary X-ray crystallographic analysis of human myotubularin-related protein 1.Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families.
P2860
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P2860
Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases
description
2003 nî lūn-bûn
@nan
2003 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Myotubularins, a large disease ...... phosphoinositides phosphatases
@ast
Myotubularins, a large disease ...... phosphoinositides phosphatases
@en
Myotubularins, a large disease ...... phosphoinositides phosphatases
@nl
type
label
Myotubularins, a large disease ...... phosphoinositides phosphatases
@ast
Myotubularins, a large disease ...... phosphoinositides phosphatases
@en
Myotubularins, a large disease ...... phosphoinositides phosphatases
@nl
prefLabel
Myotubularins, a large disease ...... phosphoinositides phosphatases
@ast
Myotubularins, a large disease ...... phosphoinositides phosphatases
@en
Myotubularins, a large disease ...... phosphoinositides phosphatases
@nl
P3181
P356
P1476
Myotubularins, a large disease ...... phosphoinositides phosphatases
@en
P2093
Alessandra Bolino
Florence Bedez
P304
P3181
P356
10.1093/HMG/DDG273
P407
P478
12 Spec No 2
P577
2003-10-15T00:00:00Z