Published in J Biol Chem on December 01, 2003
Phosphoinositides: tiny lipids with giant impact on cell regulation. Physiol Rev (2013) 3.21
Centronuclear (myotubular) myopathy. Orphanet J Rare Dis (2008) 2.53
Loss of Vac14, a regulator of the signaling lipid phosphatidylinositol 3,5-bisphosphate, results in neurodegeneration in mice. Proc Natl Acad Sci U S A (2007) 2.41
PIKfyve: Partners, significance, debates and paradoxes. Cell Biol Int (2008) 1.87
T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase. Proc Natl Acad Sci U S A (2009) 1.83
Sequential actions of myotubularin lipid phosphatases regulate endosomal PI(3)P and growth factor receptor trafficking. Mol Biol Cell (2008) 1.48
PtdIns5P activates the host cell PI3-kinase/Akt pathway during Shigella flexneri infection. EMBO J (2006) 1.45
Compartmental signal modulation: Endosomal phosphatidylinositol 3-phosphate controls endosome morphology and selective cargo sorting. Proc Natl Acad Sci U S A (2006) 1.43
The phosphoinositide kinase PIKfyve is vital in early embryonic development: preimplantation lethality of PIKfyve-/- embryos but normality of PIKfyve+/- mice. J Biol Chem (2011) 1.32
Localization of phosphatidylinositol phosphate kinase IIgamma in kidney to a membrane trafficking compartment within specialized cells of the nephron. Am J Physiol Renal Physiol (2008) 1.22
T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases. Skelet Muscle (2011) 1.22
Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle. J Clin Invest (2010) 1.21
Phosphoinositides and vesicular membrane traffic. Biochim Biophys Acta (2012) 1.14
The role of PI3P phosphatases in the regulation of autophagy. FEBS Lett (2010) 1.13
Essential role for the myotubularin-related phosphatase Ymr1p and the synaptojanin-like phosphatases Sjl2p and Sjl3p in regulation of phosphatidylinositol 3-phosphate in yeast. Mol Biol Cell (2004) 1.11
The identification and characterization of two phosphatidylinositol-4,5-bisphosphate 4-phosphatases. Proc Natl Acad Sci U S A (2005) 1.11
Type I phosphatidylinositol-4,5-bisphosphate 4-phosphatase regulates stress-induced apoptosis. Proc Natl Acad Sci U S A (2007) 1.10
Phosphatidylinositol 3,5-bisphosphate: low abundance, high significance. Bioessays (2013) 1.10
Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy. Hum Mol Genet (2013) 1.09
Alteration of epithelial structure and function associated with PtdIns(4,5)P2 degradation by a bacterial phosphatase. J Gen Physiol (2007) 1.07
Phosphoinositide phosphatases in cell biology and disease. Prog Lipid Res (2010) 1.05
Phosphoinositide phosphatases in a network of signalling reactions. Pflugers Arch (2007) 1.03
Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies. PLoS Genet (2011) 1.01
Modulation of synaptic function by VAC14, a protein that regulates the phosphoinositides PI(3,5)P₂ and PI(5)P. EMBO J (2012) 0.97
Functional dissociation between PIKfyve-synthesized PtdIns5P and PtdIns(3,5)P2 by means of the PIKfyve inhibitor YM201636. Am J Physiol Cell Physiol (2012) 0.96
Pathogenic mechanisms in centronuclear myopathies. Front Aging Neurosci (2014) 0.94
Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice. PLoS Genet (2012) 0.93
Myotubularin regulates Akt-dependent survival signaling via phosphatidylinositol 3-phosphate. J Biol Chem (2011) 0.92
Phosphatidylinositol 5-phosphate links dehydration stress to the activity of ARABIDOPSIS TRITHORAX-LIKE factor ATX1. PLoS One (2010) 0.90
The CMT4B disease-causing proteins MTMR2 and MTMR13/SBF2 regulate AKT signalling. J Cell Mol Med (2011) 0.89
The Arabidopsis chromatin modifier ATX1, the myotubularin-like AtMTM and the response to drought. Plant Signal Behav (2009) 0.89
PtdIns5P: news and views of its appearance, disappearance and deeds. Arch Biochem Biophys (2013) 0.86
The myotubularin-amphiphysin 2 complex in membrane tubulation and centronuclear myopathies. EMBO Rep (2013) 0.85
Phosphoinositide 5-phosphate and phosphoinositide 4-phosphate trigger distinct specific responses of Arabidopsis genes: genome-wide expression analyses. Plant Signal Behav (2006) 0.84
The nucleophosmin-anaplastic lymphoma kinase oncogene interacts, activates, and uses the kinase PIKfyve to increase invasiveness. J Biol Chem (2011) 0.83
An Emerging Role for PI5P in T Cell Biology. Front Immunol (2013) 0.79
New methods for capturing the mystery lipid, PtdIns5P. Biochem J (2010) 0.76
Dementia in a child with myotubular myopathy. Pediatr Neurol (2009) 0.76
Phosphatidylinositolphosphate phosphatase activities and cancer. J Lipid Res (2015) 0.76
Phosphatidylinositol 3-kinase inhibition restores Ca2+ release defects and prolongs survival in myotubularin-deficient mice. Proc Natl Acad Sci U S A (2016) 0.75
Crystal Structure of Human Myotubularin-Related Protein 1 Provides Insight into the Structural Basis of Substrate Specificity. PLoS One (2016) 0.75
Phosphoinositides, Major Actors in Membrane Trafficking and Lipid Signaling Pathways. Int J Mol Sci (2017) 0.75
The PHD finger of the chromatin-associated protein ING2 functions as a nuclear phosphoinositide receptor. Cell (2003) 3.36
Proteases acting on mutant huntingtin generate cleaved products that differentially build up cytoplasmic and nuclear inclusions. Mol Cell (2002) 2.98
Methods for interpreting lists of affected genes obtained in a DNA microarray experiment. BMC Proc (2009) 2.80
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet (2003) 2.71
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet (2006) 2.68
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nat Genet (2011) 2.61
Centronuclear (myotubular) myopathy. Orphanet J Rare Dis (2008) 2.53
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. Nat Genet (2007) 2.48
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. Am J Hum Genet (2006) 2.44
Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet (2005) 2.33
Osh4p exchanges sterols for phosphatidylinositol 4-phosphate between lipid bilayers. J Cell Biol (2011) 2.22
Raft nanodomains contribute to Akt/PKB plasma membrane recruitment and activation. Nat Chem Biol (2008) 2.12
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. Am J Hum Genet (2013) 2.10
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology (2013) 2.09
Control of autophagy initiation by phosphoinositide 3-phosphatase Jumpy. EMBO J (2009) 2.07
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. Am J Hum Genet (2008) 2.04
Antileukemic activity of rapamycin in acute myeloid leukemia. Blood (2004) 2.03
Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases. Hum Mol Genet (2003) 2.00
Patent foramen ovale and stroke in intermediate-risk pulmonary embolism. Chest (2014) 1.99
Conversion of PtdIns(4,5)P(2) into PtdIns(5)P by the S.flexneri effector IpgD reorganizes host cell morphology. EMBO J (2002) 1.94
The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice. Proc Natl Acad Sci U S A (2002) 1.91
Conversion of human fibroblasts to angioblast-like progenitor cells. Nat Methods (2012) 1.91
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy. Nat Med (2011) 1.87
Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes. Hum Mol Genet (2004) 1.85
The new tyrosine-kinase inhibitor and anticancer drug dasatinib reversibly affects platelet activation in vitro and in vivo. Blood (2009) 1.84
T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase. Proc Natl Acad Sci U S A (2009) 1.83
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes. J Med Genet (2012) 1.79
Myotubularin regulates the function of the late endosome through the gram domain-phosphatidylinositol 3,5-bisphosphate interaction. J Biol Chem (2004) 1.73
Origin, originality, functions, subversions and molecular signalling of macropinocytosis. Int J Med Microbiol (2002) 1.72
The phosphoinositide kinase PIKfyve/Fab1p regulates terminal lysosome maturation in Caenorhabditis elegans. Mol Biol Cell (2006) 1.66
Endosomal phosphoinositides and human diseases. Traffic (2008) 1.64
MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers. Proc Natl Acad Sci U S A (2010) 1.64
Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients. Hum Mol Genet (2010) 1.61
FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblasts. Hum Mol Genet (2005) 1.60
Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes. Curr Opin Genet Dev (2002) 1.57
Proteasome inhibitor-induced apoptosis in acute myeloid leukemia: a correlation with the proteasome status. Leuk Res (2009) 1.52
Hereditary myopathy with early respiratory failure: occurrence in various populations. J Neurol Neurosurg Psychiatry (2013) 1.52
Sequential actions of myotubularin lipid phosphatases regulate endosomal PI(3)P and growth factor receptor trafficking. Mol Biol Cell (2008) 1.48
G-quadruplex RNA structure as a signal for neurite mRNA targeting. EMBO Rep (2011) 1.46
PtdIns5P activates the host cell PI3-kinase/Akt pathway during Shigella flexneri infection. EMBO J (2006) 1.45
AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis. Hum Mol Genet (2008) 1.44
Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. Hum Genet (2002) 1.41
A critical role for Lyn in acute myeloid leukemia. Blood (2007) 1.40
Expression of focal adhesion kinase in acute myeloid leukemia is associated with enhanced blast migration, increased cellularity, and poor prognosis. Cancer Res (2004) 1.38
The phosphatidylinositol (PI)-5-phosphate 4-kinase type II enzyme controls insulin signaling by regulating PI-3,4,5-trisphosphate degradation. Proc Natl Acad Sci U S A (2003) 1.37
Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies. Acta Neuropathol (2010) 1.34
Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells. Hum Mol Genet (2002) 1.33
Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation. Proc Natl Acad Sci U S A (2009) 1.33
A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy. Hum Mol Genet (2006) 1.33
The G-quartet containing FMRP binding site in FMR1 mRNA is a potent exonic splicing enhancer. Nucleic Acids Res (2008) 1.32
Polo-like kinase 1 is overexpressed in acute myeloid leukemia and its inhibition preferentially targets the proliferation of leukemic cells. Blood (2009) 1.31
Pathogenic and non-pathogenic polyglutamine tracts have similar structural properties: towards a length-dependent toxicity gradient. J Mol Biol (2007) 1.31
Myotubularin lipid phosphatase binds the hVPS15/hVPS34 lipid kinase complex on endosomes. Traffic (2007) 1.29
Myotubularin phosphoinositide phosphatases: cellular functions and disease pathophysiology. Trends Mol Med (2012) 1.29
The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles. J Cell Sci (2002) 1.29
Phosphoinositide signaling disorders in human diseases. FEBS Lett (2003) 1.29
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. Eur J Hum Genet (2005) 1.28
WAVE/SCAR, a multifunctional complex coordinating different aspects of neuronal connectivity. Dev Biol (2004) 1.26
SPG11 spastic paraplegia. A new cause of juvenile parkinsonism. J Neurol (2009) 1.25
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat (2012) 1.25
Resveratrol is a class IA phosphoinositide 3-kinase inhibitor. Biochem J (2007) 1.23
Alterations of insulin signaling in type 2 diabetes: a review of the current evidence from humans. Biochim Biophys Acta (2008) 1.22
Nucleophosmin-anaplastic lymphoma kinase of anaplastic large-cell lymphoma recruits, activates, and uses pp60c-src to mediate its mitogenicity. Blood (2003) 1.22
T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases. Skelet Muscle (2011) 1.22
Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle. J Clin Invest (2010) 1.21
CXorf6 is a causative gene for hypospadias. Nat Genet (2006) 1.21
Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. Am J Hum Genet (2013) 1.20
mTOR, a new therapeutic target in acute myeloid leukemia. Cell Cycle (2005) 1.19
Molecular mechanisms of insulin receptor substrate protein-mediated modulation of insulin signalling. FEBS Lett (2003) 1.19
Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP. Proc Natl Acad Sci U S A (2003) 1.19
Type II phosphatidylinositol 4-kinases promote Listeria monocytogenes entry into target cells. Cell Microbiol (2007) 1.18
Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing. Diabetes Care (2013) 1.18
PtdIns5P regulation through evolution: roles in membrane trafficking? Trends Biochem Sci (2008) 1.17
Cells lacking the fragile X mental retardation protein (FMRP) have normal RISC activity but exhibit altered stress granule assembly. Mol Biol Cell (2008) 1.17
Phosphatidylinositol 3-phosphate, an essential lipid in Plasmodium, localizes to the food vacuole membrane and the apicoplast. Eukaryot Cell (2010) 1.16
Functional redundancy in the myotubularin family. Biochem Biophys Res Commun (2002) 1.15
Expression of myotubularin by an adenoviral vector demonstrates its function as a phosphatidylinositol 3-phosphate [PtdIns(3)P] phosphatase in muscle cell lines: involvement of PtdIns(3)P in insulin-stimulated glucose transport. Mol Endocrinol (2003) 1.15
A novel role for PECAM-1 in megakaryocytokinesis and recovery of platelet counts in thrombocytopenic mice. Blood (2007) 1.15
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain (2013) 1.14
A FRET analysis to unravel the role of cholesterol in Rac1 and PI 3-kinase activation in the InlB/Met signalling pathway. Cell Microbiol (2006) 1.13
Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness. Am J Pathol (2011) 1.13
Deletion of the p110beta isoform of phosphoinositide 3-kinase in platelets reveals its central role in Akt activation and thrombus formation in vitro and in vivo. Blood (2010) 1.12
Phosphoinositide 3-kinase as a novel functional target for the regulation of the insulin signaling pathway by SIRT1. Mol Cell Endocrinol (2011) 1.11
Mastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequence. J Biol Chem (2007) 1.08