Published in Hum Mol Genet on September 28, 2006
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
Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy. PLoS Genet (2009) 2.23
Control of autophagy initiation by phosphoinositide 3-phosphatase Jumpy. EMBO J (2009) 2.07
Deficiency of MIP/MTMR14 phosphatase induces a muscle disorder by disrupting Ca(2+) homeostasis. Nat Cell Biol (2009) 1.92
Mutations in phosphoinositide metabolizing enzymes and human disease. Physiology (Bethesda) (2009) 1.56
Approach to the diagnosis of congenital myopathies. Neuromuscul Disord (2013) 1.40
In vivo, Pikfyve generates PI(3,5)P2, which serves as both a signaling lipid and the major precursor for PI5P. Proc Natl Acad Sci U S A (2012) 1.39
Endoplasmic-reticulum calcium depletion and disease. Cold Spring Harb Perspect Biol (2011) 1.31
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat (2012) 1.25
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
The role of PI3P phosphatases in the regulation of autophagy. FEBS Lett (2010) 1.13
Membrane traffic and muscle: lessons from human disease. Traffic (2008) 1.12
Drosophila Mtm and class II PI3K coregulate a PI(3)P pool with cortical and endolysosomal functions. J Cell Biol (2010) 1.09
Negative regulation of autophagy. Cell Death Differ (2010) 1.07
Zebrafish MTMR14 is required for excitation-contraction coupling, developmental motor function and the regulation of autophagy. Hum Mol Genet (2010) 1.07
Pathogenic mechanisms in centronuclear myopathies. Front Aging Neurosci (2014) 0.94
Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide. PLoS One (2012) 0.91
Phosphatidylinositol 3-phosphatase myotubularin-related protein 6 (MTMR6) is regulated by small GTPase Rab1B in the early secretory and autophagic pathways. J Biol Chem (2012) 0.89
Clinical utility gene card for: Centronuclear and myotubular myopathies. Eur J Hum Genet (2012) 0.88
PtdIns5P: news and views of its appearance, disappearance and deeds. Arch Biochem Biophys (2013) 0.86
Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus. Brain (2014) 0.86
Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database. Eur J Hum Genet (2012) 0.85
Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia. Neuromuscul Disord (2011) 0.84
Clinical, pathological, and genetic features of dynamin-2-related centronuclear myopathy in China. Neurol Sci (2014) 0.82
Autophagy in alcohol-induced multiorgan injury: mechanisms and potential therapeutic targets. Biomed Res Int (2014) 0.81
Murine Fig4 is dispensable for muscle development but required for muscle function. Skelet Muscle (2013) 0.81
Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy. Hum Mol Genet (2014) 0.80
Myotubularin-related proteins 3 and 4 interact with polo-like kinase 1 and centrosomal protein of 55 kDa to ensure proper abscission. Mol Cell Proteomics (2015) 0.77
"Get the Balance Right": Pathological Significance of Autophagy Perturbation in Neuromuscular Disorders. J Neuromuscul Dis (2016) 0.76
Phosphatidylinositolphosphate phosphatase activities and cancer. J Lipid Res (2015) 0.76
Moving and positioning the nucleus in skeletal muscle - one step at a time. Nucleus (2015) 0.76
DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy. Genet Mol Biol (2015) 0.76
Deficiency of myotubularin-related protein 14 influences body weight, metabolism, and inflammation in an age-dependent manner. Cell Biosci (2015) 0.76
Disrupted autophagy undermines skeletal muscle adaptation and integrity. Mamm Genome (2016) 0.75
The small molecule AUTEN-99 (autophagy enhancer-99) prevents the progression of neurodegenerative symptoms. Sci Rep (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
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
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
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
Integration of Golgi trafficking and growth factor signaling by the lipid phosphatase SAC1. J Cell Biol (2008) 1.58
Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cells. J Biol Chem (2003) 1.58
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
Endosomal localization and function of sorting nexin 1. Proc Natl Acad Sci U S A (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
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
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
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
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
Functional redundancy in the myotubularin family. Biochem Biophys Res Commun (2002) 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