Published in Hum Mol Genet on August 12, 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 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
Endosomal phosphoinositides and human diseases. Traffic (2008) 1.64
Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H. Am J Hum Genet (2007) 1.58
Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis. J Cell Biol (2004) 1.53
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. Am J Hum Genet (2012) 1.51
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
In celiac disease, a subset of autoantibodies against transglutaminase binds toll-like receptor 4 and induces activation of monocytes. PLoS Med (2006) 1.34
Molecular basis for substrate recognition by MTMR2, a myotubularin family phosphoinositide phosphatase. Proc Natl Acad Sci U S A (2006) 1.30
The phosphatidylinositol 3-phosphate phosphatase myotubularin- related protein 6 (MTMR6) is a negative regulator of the Ca2+-activated K+ channel KCa3.1. Mol Cell Biol (2005) 1.26
T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases. Skelet Muscle (2011) 1.22
The role of PI3P phosphatases in the regulation of autophagy. FEBS Lett (2010) 1.13
Centronuclear myopathy in mice lacking a novel muscle-specific protein kinase transcriptionally regulated by MEF2. Genes Dev (2005) 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
Phosphatidylinositol-3 phosphatase myotubularin-related protein 6 negatively regulates CD4 T cells. Mol Cell Biol (2006) 1.08
Caenorhabditis elegans myotubularin MTM-1 negatively regulates the engulfment of apoptotic cells. PLoS Genet (2009) 1.07
Negative regulation of autophagy. Cell Death Differ (2010) 1.07
Defective membrane remodeling in neuromuscular diseases: insights from animal models. PLoS Genet (2012) 1.05
Phosphoinositide phosphatases in cell biology and disease. Prog Lipid Res (2010) 1.05
Chemical synthesis and molecular recognition of phosphatase-resistant analogues of phosphatidylinositol-3-phosphate. J Am Chem Soc (2006) 1.05
Cooperation of Mtmr8 with PI3K regulates actin filament modeling and muscle development in zebrafish. PLoS One (2009) 1.03
Phosphatidylinositol 3-phosphate indirectly activates KCa3.1 via 14 amino acids in the carboxy terminus of KCa3.1. Mol Biol Cell (2005) 1.03
Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy. Neuromuscul Disord (2007) 1.03
Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice. Proc Natl Acad Sci U S A (2008) 0.98
The ubiquitin ligase Nedd4-1 participates in denervation-induced skeletal muscle atrophy in mice. PLoS One (2012) 0.94
MTMR9 increases MTMR6 enzyme activity, stability, and role in apoptosis. J Biol Chem (2008) 0.94
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
Structural synaptic elements are differentially regulated in superior temporal cortex of schizophrenia patients. Eur Arch Psychiatry Clin Neurosci (2012) 0.91
MTMR4 attenuates transforming growth factor beta (TGFbeta) signaling by dephosphorylating R-Smads in endosomes. J Biol Chem (2010) 0.91
Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation. Orphanet J Rare Dis (2010) 0.91
Myotubularin-related protein (MTMR) 9 determines the enzymatic activity, substrate specificity, and role in autophagy of MTMR8. Proc Natl Acad Sci U S A (2012) 0.91
Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons. J Neuropathol Exp Neurol (2016) 0.91
Phosphatidylinositol 5-phosphate links dehydration stress to the activity of ARABIDOPSIS TRITHORAX-LIKE factor ATX1. PLoS One (2010) 0.90
The myotubularin family of lipid phosphatases in disease and in spermatogenesis. Biochem J (2011) 0.88
Myotubularin-related protein 4 (MTMR4) attenuates BMP/Dpp signaling by dephosphorylation of Smad proteins. J Biol Chem (2012) 0.87
Phosphatidylinositol 3-phosphates-at the interface between cell signalling and membrane traffic. EMBO J (2016) 0.87
Synthesis and molecular recognition of phosphatidylinositol-3-methylenephosphate. Org Lett (2006) 0.86
Protein tyrosine and serine-threonine phosphatases in the sea urchin, Strongylocentrotus purpuratus: identification and potential functions. Dev Biol (2006) 0.84
The inositol phosphatase MTMR4 is a novel target of the ubiquitin ligase Nedd4. Biochem J (2009) 0.83
Conditional knockout of pik3c3 causes a murine muscular dystrophy. Am J Pathol (2014) 0.81
Murine Fig4 is dispensable for muscle development but required for muscle function. Skelet Muscle (2013) 0.81
"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies. Neurol Genet (2016) 0.80
The role of myotubularin-related phosphatases in the control of autophagy and programmed cell death. Adv Biol Regul (2012) 0.80
The structure of phosphoinositide phosphatases: Insights into substrate specificity and catalysis. Biochim Biophys Acta (2014) 0.80
Biochemistry and structure of phosphoinositide phosphatases. BMB Rep (2013) 0.77
Crystallization and preliminary X-ray crystallographic analysis of human myotubularin-related protein 1. Acta Crystallogr F Struct Biol Commun (2015) 0.76
MTM-6, a phosphoinositide phosphatase, is required to promote synapse formation in Caenorhabditis elegans. PLoS One (2014) 0.76
A phylogenetic survey of myotubularin genes of eukaryotes: distribution, protein structure, evolution, and gene expression. BMC Evol Biol (2010) 0.76
Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families. Acta Myol (2014) 0.75
Crystallization and preliminary X-ray crystallographic analysis of the PH-GRAM domain of human MTMR4. Acta Crystallogr F Struct Biol Commun (2014) 0.75
Crystal Structure of Human Myotubularin-Related Protein 1 Provides Insight into the Structural Basis of Substrate Specificity. PLoS One (2016) 0.75
Identification of mitogen-activated protein kinase docking sites in enzymes that metabolize phosphatidylinositols and inositol phosphates. Cell Commun Signal (2006) 0.75
Phosphoinositides, Major Actors in Membrane Trafficking and Lipid Signaling Pathways. Int J Mol Sci (2017) 0.75
Expression, purification, crystallization and preliminary crystallographic analysis of human myotubularin-related protein 3. Acta Crystallogr F Struct Biol Commun (2014) 0.75
SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement. Neurogenetics (2016) 0.75
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
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
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. Am J Hum Genet (2013) 2.10
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. Am J Hum Genet (2008) 2.04
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
Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes. Hum Mol Genet (2004) 1.85
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
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
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
G-quadruplex RNA structure as a signal for neurite mRNA targeting. EMBO Rep (2011) 1.46
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
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
Pathogenic and non-pathogenic polyglutamine tracts have similar structural properties: towards a length-dependent toxicity gradient. J Mol Biol (2007) 1.31
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
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
Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-Tooth type 4B1 neuropathy with myelin outfoldings. J Neurosci (2005) 1.22
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
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
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
Dlg1, Sec8, and Mtmr2 regulate membrane homeostasis in Schwann cell myelination. J Neurosci (2009) 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
Polyglutamine expansion causes neurodegeneration by altering the neuronal differentiation program. Hum Mol Genet (2006) 1.05
Five years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative study reporting 95% of the activity in France. Am J Med Genet A (2004) 1.04
Next generation sequencing for molecular diagnosis of neuromuscular diseases. Acta Neuropathol (2012) 1.03
Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation. Neuromuscul Disord (2007) 1.02
Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonates. Eur J Pediatr (2007) 1.01
Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies. PLoS Genet (2011) 1.01
82-FIP, a novel FMRP (fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization. Hum Mol Genet (2003) 0.99
Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism. Eur J Hum Genet (2006) 0.98
Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H. Neuromuscul Disord (2009) 0.97
Myotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system. Mol Neurobiol (2007) 0.96
Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve. Hum Mol Genet (2003) 0.96
Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome. Eur J Hum Genet (2012) 0.95
Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases. Expert Rev Mol Med (2007) 0.94
BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families. J Hum Genet (2005) 0.93
Disease progression despite early loss of polyglutamine protein expression in SCA7 mouse model. J Neurosci (2004) 0.93
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia. Am J Med Genet A (2011) 0.92
Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways. FASEB J (2013) 0.87
Vimentin regulates peripheral nerve myelination. Development (2012) 0.86
Progressive retinal degeneration and dysfunction in R6 Huntington's disease mice. Hum Mol Genet (2002) 0.86
Linear and extended: a common polyglutamine conformation recognized by the three antibodies MW1, 1C2 and 3B5H10. Hum Mol Genet (2013) 0.86
Analyzing histopathological features of rare charcot-marie-tooth neuropathies to unravel their pathogenesis. Arch Neurol (2010) 0.85
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes. Eur J Med Genet (2010) 0.85
SM2PH-db: an interactive system for the integrated analysis of phenotypic consequences of missense mutations in proteins involved in human genetic diseases. Hum Mutat (2010) 0.85
DDIT4/REDD1/RTP801 is a novel negative regulator of Schwann cell myelination. J Neurosci (2013) 0.85
NUFIP1 (nuclear FMRP interacting protein 1) is a nucleocytoplasmic shuttling protein associated with active synaptoneurosomes. Exp Cell Res (2003) 0.84
Hsp70 and Hsp40 chaperones do not modulate retinal phenotype in SCA7 mice. J Biol Chem (2004) 0.82
Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect. Eur J Hum Genet (2006) 0.82
Identification of erythrocyte p55/MPP1 as a binding partner of NF2 tumor suppressor protein/Merlin. Exp Biol Med (Maywood) (2009) 0.81
[Bardet-Biedl syndrome: a unique family for a major gene (BBS10)]. Med Sci (Paris) (2006) 0.79
Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy. J Neurol Neurosurg Psychiatry (2010) 0.78
Foot pad skin biopsy in mouse models of hereditary neuropathy. Glia (2010) 0.78
[Mutations in amphiphysin 2 (BIN1) cause autosomal recessive centronuclear myopathy]. Med Sci (Paris) (2007) 0.77
Urokinase plasminogen receptor and the fibrinolytic complex play a role in nerve repair after nerve crush in mice, and in human neuropathies. PLoS One (2012) 0.77
A novel homozygous mutation in the MTMR2 gene in two siblings with 'hypermyelinating neuropathy'. J Peripher Nerv Syst (2013) 0.77
Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy. Am J Med Genet A (2005) 0.75
[23andMed: Geneticist Jean-Louis Mandel's personal experience]. Rev Med Suisse (2015) 0.75
Meeting report: 2013 Peripheral Nerve Society Biennial Meeting, Saint-Malo, France, June 29-July 3, 2013. J Peripher Nerv Syst (2013) 0.75