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Adenocarcinoma
Targeting autophagy in disease: established and new strategies.
Amyotrophic Lateral Sclerosis
Targeting autophagy in disease: established and new strategies.
Arthritis, Rheumatoid
Association of MTMR3 rs12537 at miR-181a binding site with rheumatoid arthritis and systemic lupus erythematosus risk in Egyptian patients.
Azoospermia
Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis.
Brain Diseases
WDR45, one gene associated with multiple neurodevelopmental disorders.
Breast Neoplasms
Exosomal miR-1910-3p promotes proliferation, metastasis, and autophagy of breast cancer cells by targeting MTMR3 and activating the NF-?B signaling pathway.
Breast Neoplasms
MTMR3 is upregulated in patients with breast cancer and regulates proliferation, cell cycle progression and autophagy in breast cancer cells.
Breast Neoplasms
rs12537 Is a Novel Susceptibility SNP Associated With Estrogen Receptor Positive Breast Cancer in Chinese Han Population.
Buruli Ulcer
Inhibition of the SEC61 translocon by mycolactone induces a protective autophagic response controlled by EIF2S1-dependent translation that does not require ULK1 activity.
Carcinogenesis
Krebs medal review. How a lipid mediates tumour suppression: Delivered on 29 June 2010 at the 35th FEBS Congress in Gothenburg, Sweden.
Carcinogenesis
miR-181a modulates proliferation, migration and autophagy in AGS gastric cancer cells and downregulates MTMR3.
Carcinoma
The human myotubularin-related protein suppresses the growth of lung carcinoma cells.
Carcinoma, Hepatocellular
The ménage à trois of autophagy, lipid droplets and liver disease.
Carcinoma, Non-Small-Cell Lung
The influence of circular RNAs on autophagy and disease progression.
Cardiomyopathies
Knockdown MTMR14 promotes cell apoptosis and inhibits migration in liver cancer cells.
Cardiomyopathy, Dilated
SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.
Charcot-Marie-Tooth Disease
A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths.
Charcot-Marie-Tooth Disease
An In Vitro Model of Charcot-Marie-Tooth Disease Type 4B2 Provides Insight Into the Roles of MTMR13 and MTMR2 in Schwann Cell Myelination.
Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
Charcot-Marie-Tooth Disease
Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome.
Charcot-Marie-Tooth Disease
Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy.
Charcot-Marie-Tooth Disease
Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking.
Charcot-Marie-Tooth Disease
Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1.
Charcot-Marie-Tooth Disease
Membrane association of myotubularin-related protein 2 is mediated by a pleckstrin homology-GRAM domain and a coiled-coil dimerization module.
Charcot-Marie-Tooth Disease
Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.
Charcot-Marie-Tooth Disease
Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease.
Charcot-Marie-Tooth Disease
Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve.
Charcot-Marie-Tooth Disease
Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes.
Charcot-Marie-Tooth Disease
Phosphatidylinositol-5-phosphate activation and conserved substrate specificity of the myotubularin phosphatidylinositol 3-phosphatases.
Charcot-Marie-Tooth Disease
Sequential actions of myotubularin lipid phosphatases regulate endosomal PI(3)P and growth factor receptor trafficking.
Charcot-Marie-Tooth Disease
Silencing of the Charcot-Marie-Tooth associated MTMR2 gene decreases proliferation and enhances cell death in primary cultures of Schwann cells.
Charcot-Marie-Tooth Disease
SOX10 Regulates an Alternative Promoter at the Charcot-Marie-Tooth Disease Locus MTMR2.
Charcot-Marie-Tooth Disease
The phosphatidylinositol 3-phosphate phosphatase myotubularin- related protein 6 (MTMR6) is a negative regulator of the Ca2+-activated K+ channel KCa3.1.
Charcot-Marie-Tooth Disease
The phosphoinositide 3-phosphatase MTMR2 interacts with PSD-95 and maintains excitatory synapses by modulating endosomal traffic.
Charcot-Marie-Tooth Disease
The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease.
Charcot-Marie-Tooth Disease
The structure and regulation of myotubularin phosphatases.
Charcot-Marie-Tooth Disease
Whole-Exome Sequencing Identifies a Novel Homozygous Frameshift Mutation in the MTMR2 Gene as a Causative Mutation in a Patient with Charcot-Marie-Tooth Disease Type 4B1.
Charcot-Marie-Tooth Disease
[Mutation analysis of LITAF, RAB7, LMNA and MTMR2 genes in Chinese Charcot-Marie-Tooth disease.]
Colitis, Ulcerative
How autophagy controls the intestinal epithelial barrier.
Colitis, Ulcerative
New insights into the interplay between autophagy, gut microbiota and inflammatory responses in IBD.
Colitis, Ulcerative
PI3KC3 complex subunit NRBF2 is required for apoptotic cell clearance to restrict intestinal inflammation.
Colonic Neoplasms
MTMR3 is upregulated in patients with breast cancer and regulates proliferation, cell cycle progression and autophagy in breast cancer cells.
Colonic Neoplasms
Myotubularin-related phosphatase 3 promotes growth of colorectal cancer cells.
Colorectal Neoplasms
How autophagy controls the intestinal epithelial barrier.
Colorectal Neoplasms
Myotubularin-related phosphatase 3 promotes growth of colorectal cancer cells.
Colorectal Neoplasms
Myotubularin-related protein 7 inhibits insulin signaling in colorectal cancer.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase.
Crohn Disease
How autophagy controls the intestinal epithelial barrier.
Crohn Disease
New insights into the interplay between autophagy, gut microbiota and inflammatory responses in IBD.
Crohn Disease
PI3KC3 complex subunit NRBF2 is required for apoptotic cell clearance to restrict intestinal inflammation.
Cystic Fibrosis
How autophagy controls the intestinal epithelial barrier.
Dehydration
Divergent Functions of the Myotubularin (MTM) Homologs AtMTM1 and AtMTM2 in Arabidopsis thaliana: Evolution of the plant MTM family.
Dehydration
Phosphatidylinositol 5-phosphate links dehydration stress to the activity of ARABIDOPSIS TRITHORAX-LIKE factor ATX1.
Demyelinating Diseases
Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1.
Demyelinating Diseases
Myotubularin-Related (MTMR) Phospholipid Phosphatase Proteins in the Peripheral Nervous System.
Demyelinating Diseases
Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve.
Diabetes Mellitus
Myotubularin-related protein 7 inhibits insulin signaling in colorectal cancer.
Diabetes Mellitus, Type 2
Myotubularin-related protein 7 inhibits insulin signaling in colorectal cancer.
Endometrial Hyperplasia
Autophagy in the physiological endometrium and cancer.
Endometrial Neoplasms
Autophagy in the physiological endometrium and cancer.
Fatty Liver
The ménage à trois of autophagy, lipid droplets and liver disease.
Foot Deformities
Genetic spectrum of hereditary neuropathies with onset in the first year of life.
Foot-and-Mouth Disease
Autophagic degradation of SQSTM1 inhibits ovarian cancer motility by decreasing DICER1 and AGO2 to induce MIRLET7A-3P.
Fragile X Syndrome
Defective phosphoinositide metabolism in autism.
Gallbladder Neoplasms
The long noncoding RNA TPTE2P1 promotes the viability of colorectal cancer cells.
Genetic Diseases, Inborn
Downregulation of EDTP in glial cells suppresses polyglutamine protein aggregates and extends lifespan in Drosophila melanogaster.
Genetic Diseases, Inborn
Expression of myotubularins in blood platelets: Characterization and potential diagnostic of X-linked myotubular myopathy.
Genetic Diseases, Inborn
Implication of phosphoinositide phosphatases in genetic diseases: the case of myotubularin.
Genetic Diseases, Inborn
Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease.
Genetic Diseases, Inborn
Phosphoinositide signaling disorders in human diseases.
Genetic Diseases, Inborn
Pseudo-phosphatase Sbf1 contains an N-terminal GEF homology domain that modulates its growth regulatory properties.
Genetic Diseases, Inborn
The myotubularin family: from genetic disease to phosphoinositide metabolism.
Glaucoma
Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.
Glioblastoma
Comprehensive protein tyrosine phosphatase mRNA profiling identifies new regulators in the progression of glioma.
Glioma
Comprehensive protein tyrosine phosphatase mRNA profiling identifies new regulators in the progression of glioma.
Glioma
MicroRNA 10a induces glioma tumorigenesis by targeting myotubularin-related protein 3 and regulating the Wnt/?-catenin signaling pathway.
Glomerulonephritis, IGA
Brief Report: Identification of MTMR3 as a Novel Susceptibility Gene for Lupus Nephritis in Northern Han Chinese by Shared-Gene Analysis With IgA Nephropathy.
Glomerulonephritis, IGA
Three SNPs of FCRL3 and one SNP of MTMR3 are associated with immunoglobulin A nephropathy risk.
Granulomatous Disease, Chronic
Phosphorylation of threonine 154 in p40phox is an important physiological signal for activation of the neutrophil NADPH oxidase.
Hereditary Sensory and Motor Neuropathy
Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1.
Herpes Simplex
PtdIns3P phosphatases MTMR3 and MTMR4 negatively regulate innate immune responses to DNA through modulating STING trafficking.
Infections
Binding of Avibirnavirus VP3 to the PIK3C3-PDPK1 complex inhibits autophagy by activating the AKT-MTOR pathway.
Infections
Endosomal maturation, Rab7 GTPase and phosphoinositides in African swine fever virus entry.
Infections
Macrophages target Salmonella by Lc3-associated phagocytosis in a systemic infection model.
Infections
MTMR4 Is Required for the Stability of the Salmonella-Containing Vacuole.
Infections
PI3KC3 complex subunit NRBF2 is required for apoptotic cell clearance to restrict intestinal inflammation.
Infections
PtdIns3P phosphatases MTMR3 and MTMR4 negatively regulate innate immune responses to DNA through modulating STING trafficking.
Inflammatory Bowel Diseases
How autophagy controls the intestinal epithelial barrier.
Inflammatory Bowel Diseases
New insights into the interplay between autophagy, gut microbiota and inflammatory responses in IBD.
Inflammatory Bowel Diseases
PI3KC3 complex subunit NRBF2 is required for apoptotic cell clearance to restrict intestinal inflammation.
Intellectual Disability
Genetic Variants of the MTMR9 Gene Are Associated with NonSpecific Intellectual Disability: A Family-Based Association Study.
Intellectual Disability
Role of Wdr45b in maintaining neural autophagy and cognitive function.
Intellectual Disability
WDR45, one gene associated with multiple neurodevelopmental disorders.
Ischemic Stroke
MTMR14 protects against cerebral stroke through suppressing PTEN-regulated autophagy.
Leukemia, Myeloid, Acute
Phosphoinositide signaling disorders in human diseases.
Liver Diseases
The ménage à trois of autophagy, lipid droplets and liver disease.
Liver Neoplasms
Knockdown MTMR14 promotes cell apoptosis and inhibits migration in liver cancer cells.
Long QT Syndrome
MTMR4 SNVs modulate ion channel degradation and clinical severity in congenital long QT syndrome: insights in the mechanism of action of protective modifier genes.
Lung Neoplasms
The human myotubularin-related protein suppresses the growth of lung carcinoma cells.
Lung Neoplasms
The influence of circular RNAs on autophagy and disease progression.
Lupus Erythematosus, Systemic
Association of MTMR3 rs12537 at miR-181a binding site with rheumatoid arthritis and systemic lupus erythematosus risk in Egyptian patients.
Lupus Erythematosus, Systemic
Podocytes and autophagy: a potential therapeutic target in lupus nephritis.
Lupus Nephritis
Brief Report: Identification of MTMR3 as a Novel Susceptibility Gene for Lupus Nephritis in Northern Han Chinese by Shared-Gene Analysis With IgA Nephropathy.
Lupus Nephritis
Podocytes and autophagy: a potential therapeutic target in lupus nephritis.
Lymphatic Metastasis
MTMR2 promotes invasion and metastasis of gastric cancer via inactivating IFN?/STAT1 signaling.
Lymphoma
MTMR2 promotes the progression of NK/T cell lymphoma by targeting JAK1.
Metabolic Syndrome
Myotubularin phosphoinositide phosphatases: cellular functions and disease pathophysiology.
Mouth Neoplasms
MiR-99a exerts anti-metastasis through inhibiting myotubularin-related protein 3 expression in oral cancer.
Muscle Hypotonia
A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of the TRPM1, CHRNA7, and other homozygously deleted genes.
Muscle Hypotonia
Reducing dynamin 2 expression rescues X-linked centronuclear myopathy.
Muscle Spasticity
ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis.
Muscle Weakness
Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy.
Muscular Atrophy
Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking.
Muscular Atrophy
Myotubularin regulates Akt-dependent survival signaling via phosphatidylinositol 3-phosphate.
Muscular Diseases
A novel mutation (R271X) in the myotubularin gene causes a severe miotubular myopathy.
Muscular Diseases
A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.
Muscular Diseases
AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis.
Muscular Diseases
Adult MTM1-related myopathy carriers: Classification based on deep phenotyping.
Muscular Diseases
Congenital myopathies and related disorders.
Muscular Diseases
Deficiency of MTMR14 impairs male fertility in Mus musculus.
Muscular Diseases
Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: a clinical and genetic study.
Muscular Diseases
Differential Muscle Hypertrophy Is Associated with Satellite Cell Numbers and Akt Pathway Activation Following Activin Type IIB Receptor Inhibition in Mtm1 p.R69C Mice.
Muscular Diseases
Dynamin 2 the rescue for centronuclear myopathy.
Muscular Diseases
Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation.
Muscular Diseases
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.
Muscular Diseases
Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy.
Muscular Diseases
Extensive morphological and immunohistochemical characterization in myotubular myopathy.
Muscular Diseases
Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking.
Muscular Diseases
Growth stimulation of primary B cell precursors by the anti-phosphatase Sbf1.
Muscular Diseases
Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways.
Muscular Diseases
Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy.
Muscular Diseases
Myopathy with skeletal asymmetry and hemidiaphragm elevation is caused by myotubularin mutations.
Muscular Diseases
Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotype.
Muscular Diseases
Myotubularin lipid phosphatase binds the hVPS15/hVPS34 lipid kinase complex on endosomes.
Muscular Diseases
Myotubularin phosphoinositide phosphatases in human diseases.
Muscular Diseases
Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment.
Muscular Diseases
N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy.
Muscular Diseases
Pathogenic mechanisms in centronuclear myopathies.
Muscular Diseases
Phosphoinositide regulation of integrin trafficking required for muscle attachment and maintenance.
Muscular Diseases
Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons.
Muscular Diseases
Validity of a neurological scoring system for canine X-linked myotubular myopathy.
Muscular Diseases
Validity of a Neurological Scoring System for Canine X-Linked Myotubular Myopathy.
Muscular Diseases
Whole exome sequencing discloses a pathogenic MTM1 gene mutation and ends the diagnostic odyssey in an older woman with a progressive and seemingly sporadic myopathy: Case report and literature review of MTM1 manifesting female carriers.
Muscular Diseases
X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10.
Muscular Diseases
X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant.
Muscular Diseases
Zebrafish MTMR14 is required for excitation-contraction coupling, developmental motor function and the regulation of autophagy.
Myopathies, Structural, Congenital
"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy.
Myopathies, Structural, Congenital
A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.
Myopathies, Structural, Congenital
AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis.
Myopathies, Structural, Congenital
Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice.
Myopathies, Structural, Congenital
Anti-AAV Antibodies in AAV Gene Therapy: Current Challenges and Possible Solutions.
Myopathies, Structural, Congenital
Association of SET domain and myotubularin-related proteins modulates growth control.
Myopathies, Structural, Congenital
Ca2+-induced sarcoplasmic reticulum Ca2+ release in myotubularin-deficient muscle fibers.
Myopathies, Structural, Congenital
Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations.
Myopathies, Structural, Congenital
Centronuclear myopathies under attack: A plethora of therapeutic targets.
Myopathies, Structural, Congenital
Characterization of MTMR3. an inositol lipid 3-phosphatase with novel substrate specificity.
Myopathies, Structural, Congenital
Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy.
Myopathies, Structural, Congenital
Clinical phenotype of x-linked myotubular myopathy in labrador retriever puppies.
Myopathies, Structural, Congenital
Congenital myopathies and related disorders.
Myopathies, Structural, Congenital
Costs and health resource use in patients with X-linked myotubular myopathy: insights from US commercial claims.
Myopathies, Structural, Congenital
Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome.
Myopathies, Structural, Congenital
Defective autophagy and mTORC1 signaling in myotubularin null mice.
Myopathies, Structural, Congenital
Defective membrane remodeling in neuromuscular diseases: insights from animal models.
Myopathies, Structural, Congenital
Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy.
Myopathies, Structural, Congenital
Detection of myotubularin phosphatases activity on phosphoinositides in vitro and ex vivo.
Myopathies, Structural, Congenital
Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: a clinical and genetic study.
Myopathies, Structural, Congenital
Diagnosis of X-linked myotubular myopathy by detection of myotubularin.
Myopathies, Structural, Congenital
Differential Muscle Hypertrophy Is Associated with Satellite Cell Numbers and Akt Pathway Activation Following Activin Type IIB Receptor Inhibition in Mtm1 p.R69C Mice.
Myopathies, Structural, Congenital
Downregulation of EDTP in glial cells suppresses polyglutamine protein aggregates and extends lifespan in Drosophila melanogaster.
Myopathies, Structural, Congenital
Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches.
Myopathies, Structural, Congenital
Dynamin 2 the rescue for centronuclear myopathy.
Myopathies, Structural, Congenital
Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation.
Myopathies, Structural, Congenital
Endosomal phosphoinositides and human diseases.
Myopathies, Structural, Congenital
Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy.
Myopathies, Structural, Congenital
Exclusion of mutations in the MTMR1 gene as a frequent cause of X-linked myotubular myopathy.
Myopathies, Structural, Congenital
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.
Myopathies, Structural, Congenital
Expression of myotubularins in blood platelets: Characterization and potential diagnostic of X-linked myotubular myopathy.
Myopathies, Structural, Congenital
Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy.
Myopathies, Structural, Congenital
Extensive morphological and immunohistochemical characterization in myotubular myopathy.
Myopathies, Structural, Congenital
Functional redundancy in the myotubularin family.
Myopathies, Structural, Congenital
Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy.
Myopathies, Structural, Congenital
Grand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic male.
Myopathies, Structural, Congenital
Identification and localization of a new human myotubularin-related protein gene, mtmr8, on 8p22-p23.
Myopathies, Structural, Congenital
Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP.
Myopathies, Structural, Congenital
Implication of phosphoinositide phosphatases in genetic diseases: the case of myotubularin.
Myopathies, Structural, Congenital
Inaugural article: myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate.
Myopathies, Structural, Congenital
Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice.
Myopathies, Structural, Congenital
Intravenous Administration of a MTMR2-Encoding AAV Vector Ameliorates the Phenotype of Myotubular Myopathy in Mice.
Myopathies, Structural, Congenital
Living-donor liver transplantation for liver hemorrhaging due to peliosis hepatis in X-linked myotubular myopathy: Two cases and a literature review.
Myopathies, Structural, Congenital
Long-term effects of systemic gene therapy in a canine model of myotubular myopathy.
Myopathies, Structural, Congenital
Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.
Myopathies, Structural, Congenital
Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy.
Myopathies, Structural, Congenital
Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1.
Myopathies, Structural, Congenital
Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype.
Myopathies, Structural, Congenital
MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy.
Myopathies, Structural, Congenital
MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers.
Myopathies, Structural, Congenital
Muscle function in A canine model of X-linked myotubular myopathy.
Myopathies, Structural, Congenital
Muscle pathology, limb strength, walking gait, respiratory function and neurological impairment establish disease progression in the p.N155K canine model of X-linked myotubular myopathy.
Myopathies, Structural, Congenital
Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells.
Myopathies, Structural, Congenital
Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.
Myopathies, Structural, Congenital
Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center.
Myopathies, Structural, Congenital
Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotype.
Myopathies, Structural, Congenital
Myotubular myopathy: morphological, immunohistochemical and clinical variation.
Myopathies, Structural, Congenital
Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease.
Myopathies, Structural, Congenital
Myotubularin and PtdIns3P remodel the sarcoplasmic reticulum in muscle in vivo.
Myopathies, Structural, Congenital
Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.
Myopathies, Structural, Congenital
Myotubularin phosphatases: policing 3-phosphoinositides.
Myopathies, Structural, Congenital
Myotubularin phosphoinositide phosphatases in human diseases.
Myopathies, Structural, Congenital
Myotubularin regulates Akt-dependent survival signaling via phosphatidylinositol 3-phosphate.
Myopathies, Structural, Congenital
Myotubularin regulates the function of the late endosome through the gram domain-phosphatidylinositol 3,5-bisphosphate interaction.
Myopathies, Structural, Congenital
Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway.
Myopathies, Structural, Congenital
Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment.
Myopathies, Structural, Congenital
N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy.
Myopathies, Structural, Congenital
Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy.
Myopathies, Structural, Congenital
Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice.
Myopathies, Structural, Congenital
Phosphatidylinositol 3-kinase inhibition restores Ca2+ release defects and prolongs survival in myotubularin-deficient mice.
Myopathies, Structural, Congenital
Phosphatidylinositol-5-phosphate activation and conserved substrate specificity of the myotubularin phosphatidylinositol 3-phosphatases.
Myopathies, Structural, Congenital
Phosphoinositide regulation of integrin trafficking required for muscle attachment and maintenance.
Myopathies, Structural, Congenital
Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cells.
Myopathies, Structural, Congenital
Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC).
Myopathies, Structural, Congenital
Rat testicular myotubularin, a protein tyrosine phosphatase expressed by Sertoli and germ cells, is a potential marker for studying cell-cell interactions in the rat testis.
Myopathies, Structural, Congenital
Respiratory care in myotubular myopathy.
Myopathies, Structural, Congenital
Sequential actions of myotubularin lipid phosphatases regulate endosomal PI(3)P and growth factor receptor trafficking.
Myopathies, Structural, Congenital
Single Intramuscular Injection of AAV-shRNA Reduces DNM2 and Prevents Myotubular Myopathy in Mice.
Myopathies, Structural, Congenital
Site-specific Mtm1 mutagenesis by an AAV-Cre vector reveals that myotubularin is essential in adult muscle.
Myopathies, Structural, Congenital
Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons.
Myopathies, Structural, Congenital
SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.
Myopathies, Structural, Congenital
Symptomatic heterozygous X-Linked Myotubular Myopathy female patient with a large deletion at Xq28 and decrease expression of normal allele.
Myopathies, Structural, Congenital
Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs.
Myopathies, Structural, Congenital
T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase.
Myopathies, Structural, Congenital
Tamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy.
Myopathies, Structural, Congenital
The Dog Model in the Spotlight: Legacy of a Trustful Cooperation.
Myopathies, Structural, Congenital
The intragenic microRNA miR199A1 in the dynamin 2 gene contributes to the pathology of X-linked centronuclear myopathy.
Myopathies, Structural, Congenital
The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice.
Myopathies, Structural, Congenital
The myotubularin family: from genetic disease to phosphoinositide metabolism.
Myopathies, Structural, Congenital
The myotubularin family: novel phosphoinositide regulators.
Myopathies, Structural, Congenital
The myotubularin-amphiphysin 2 complex in membrane tubulation and centronuclear myopathies.
Myopathies, Structural, Congenital
The phosphatidylinositol 3-phosphate phosphatase myotubularin- related protein 6 (MTMR6) is a negative regulator of the Ca2+-activated K+ channel KCa3.1.
Myopathies, Structural, Congenital
The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles.
Myopathies, Structural, Congenital
The structure and regulation of myotubularin phosphatases.
Myopathies, Structural, Congenital
X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10.
Myopathies, Structural, Congenital
X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation.
Myopathies, Structural, Congenital
X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant.
Myopathies, Structural, Congenital
Zebrafish MTMR14 is required for excitation-contraction coupling, developmental motor function and the regulation of autophagy.
Myopathies, Structural, Congenital
[A case of X-linked myotubular myopathy with chylothorax].
Myopathies, Structural, Congenital
[X-linked recessive myotubular myopathy with a splice-site mutation in the myotubularin gene]
Myotonic Dystrophy
Analysis of MTMR1 expression and correlation with muscle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2).
Myotonic Dystrophy
Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells.
Neoplasm Metastasis
Exosomal miR-1910-3p promotes proliferation, metastasis, and autophagy of breast cancer cells by targeting MTMR3 and activating the NF-?B signaling pathway.
Neoplasm Metastasis
MTMR2 promotes invasion and metastasis of gastric cancer via inactivating IFN?/STAT1 signaling.
Neoplasm Metastasis
MTMR2 promotes the progression of NK/T cell lymphoma by targeting JAK1.
Neoplasms
Alkylation of the tumor suppressor PTEN activates Akt and ?-catenin signaling: a mechanism linking inflammation and oxidative stress with cancer.
Neoplasms
Autophagy in the physiological endometrium and cancer.
Neoplasms
Characterization of MTMR3. an inositol lipid 3-phosphatase with novel substrate specificity.
Neoplasms
Constitutive cellular expression of PI 3-kinase is distinct from transient expression.
Neoplasms
Divide and ProsPer: The emerging role of PtdIns3P in cytokinesis.
Neoplasms
How autophagy controls the intestinal epithelial barrier.
Neoplasms
Inhibition of the SEC61 translocon by mycolactone induces a protective autophagic response controlled by EIF2S1-dependent translation that does not require ULK1 activity.
Neoplasms
Inpp5f Is a Polyphosphoinositide Phosphatase That Regulates Cardiac Hypertrophic Responsiveness.
Neoplasms
Knockdown MTMR14 promotes cell apoptosis and inhibits migration in liver cancer cells.
Neoplasms
Krebs medal review. How a lipid mediates tumour suppression: Delivered on 29 June 2010 at the 35th FEBS Congress in Gothenburg, Sweden.
Neoplasms
MiR-506-3p suppresses the proliferation of ovarian cancer cells by negatively regulating the expression of MTMR6.
Neoplasms
MTMR2 promotes invasion and metastasis of gastric cancer via inactivating IFN?/STAT1 signaling.
Neoplasms
MTMR3 is upregulated in patients with breast cancer and regulates proliferation, cell cycle progression and autophagy in breast cancer cells.
Neoplasms
Mutational analysis of mononucleotide repeats in dual specificity tyrosine phosphatase genes in gastric and colon carcinomas with microsatellite instability.
Neoplasms
Myotubularin phosphoinositide phosphatases: cellular functions and disease pathophysiology.
Neoplasms
Myotubularin related protein 7 is essential for the spermatogonial stem cell homeostasis via PI3K/AKT signaling.
Neoplasms
Myotubularin-related protein 7 activates peroxisome proliferator-activated receptor-gamma.
Neoplasms
Myotubularin-related protein 7 inhibits insulin signaling in colorectal cancer.
Neoplasms
New insights into the interplay between autophagy, gut microbiota and inflammatory responses in IBD.
Neoplasms
Nonradioactive methods for the assay of phosphoinositide 3-kinases and phosphoinositide phosphatases and selective detection of signaling lipids in cell and tissue extracts.
Neoplasms
Phosphoinositide signaling disorders in human diseases.
Neoplasms
Phosphorylation of ATG18a by BAK1 suppresses autophagy and attenuates plant resistance against necrotrophic pathogens.
Neoplasms
PIKfyve, MTMR3 and their product PtdIns5P regulate cancer cell migration and invasion through activation of Rac1.
Neoplasms
PTEN: its deregulation and tumorigenesis.
Neoplasms
PTEN: The down side of PI 3-kinase signalling.
Neoplasms
RAB33B recruits the ATG16L1 complex to the phagophore via a noncanonical RAB binding protein.
Neoplasms
The influence of circular RNAs on autophagy and disease progression.
Neoplasms
TNF-induced necroptosis initiates early autophagy events via RIPK3-dependent AMPK activation, but inhibits late autophagy.
Neoplasms
TP53INP2 contributes to autophagosome formation by promoting LC3-ATG7 interaction.
Neoplasms
WIPI proteins: essential PtdIns3P effectors at the nascent autophagosome.
Neoplasms
Yeast-based methods to assess PTEN phosphoinositide phosphatase activity in vivo.
Neoplasms
[Mutation analysis of LITAF, RAB7, LMNA and MTMR2 genes in Chinese Charcot-Marie-Tooth disease.]
Neuroblastoma
Characterization of myotubularin-related protein 7 and its binding partner, myotubularin-related protein 9.
Neurodegenerative Diseases
Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease.
Neurodegenerative Diseases
Targeting autophagy in disease: established and new strategies.
Neuromuscular Diseases
Defective membrane remodeling in neuromuscular diseases: insights from animal models.
Neuromuscular Diseases
Endosomal Targeting of the Phosphoinositide 3-Phosphatase MTMR2 is Regulated by an N-Terminal Phosphorylation Site.
Neuromuscular Diseases
Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype.
Neuromuscular Diseases
Myotubularin phosphoinositide phosphatases: cellular functions and disease pathophysiology.
Neuromuscular Diseases
The Phosphoinositide Kinase PIKfyve/Fab1p Regulates Terminal Lysosome Maturation in Caenorhabditis elegans.
Neuromuscular Diseases
The phosphoinositide kinase PIKfyve/Fab1p regulates terminal lysosome maturation in Caenorhabditis elegans.
Neuromuscular Diseases
The structure and regulation of myotubularin phosphatases.
Niemann-Pick Disease, Type C
New insights into the interplay between autophagy, gut microbiota and inflammatory responses in IBD.
Niemann-Pick Diseases
New insights into the interplay between autophagy, gut microbiota and inflammatory responses in IBD.
Non-alcoholic Fatty Liver Disease
The ménage à trois of autophagy, lipid droplets and liver disease.
Obesity
Deficiency of myotubularin-related protein 14 influences body weight, metabolism, and inflammation in an age-dependent manner.
Obesity
Mice lacking myotubularin-related protein 14 show accelerated high-fat diet-induced lipid accumulation and inflammation.
Obesity
Myotubularin phosphoinositide phosphatases: cellular functions and disease pathophysiology.
Obesity
[New insights about obesity-related genes]
Oculocerebrorenal Syndrome
Phosphoinositide signaling disorders in human diseases.
Ovarian Neoplasms
MiR-506-3p suppresses the proliferation of ovarian cancer cells by negatively regulating the expression of MTMR6.
Overweight
Deficiency of myotubularin-related protein 14 influences body weight, metabolism, and inflammation in an age-dependent manner.
Pancreatic Neoplasms
A Transcriptome-Wide Association Study Identifies Candidate Susceptibility Genes for Pancreatic Cancer Risk.
Pancreatitis
LAP-like non-canonical autophagy and evolution of endocytic vacuoles in pancreatic acinar cells.
Paralysis
Vocal cord paralysis in Charcot-Marie-Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature.
Paraplegia
Mouse models for hereditary spastic paraplegia uncover a role of PI4K2A in autophagic lysosome reformation.
Parkinson Disease
Autophagy and innate immunity: Insights from invertebrate model organisms.
Parkinson Disease
The PARK10 gene USP24 is a negative regulator of autophagy and ULK1 protein stability.
Peripheral Nervous System Diseases
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
Peripheral Nervous System Diseases
Endosomal phosphoinositides and human diseases.
Peripheral Nervous System Diseases
Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy.
Peripheral Nervous System Diseases
Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice.
Peripheral Nervous System Diseases
Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.
Peripheral Nervous System Diseases
Myotubularin phosphatases: policing 3-phosphoinositides.
Peripheral Nervous System Diseases
Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve.
Peripheral Nervous System Diseases
SOX10 Regulates an Alternative Promoter at the Charcot-Marie-Tooth Disease Locus MTMR2.
Peripheral Nervous System Diseases
The phosphoinositide 3-phosphatase MTMR2 interacts with PSD-95 and maintains excitatory synapses by modulating endosomal traffic.
phosphatidylinositol-3-phosphatase deficiency
An In Vitro Model of Charcot-Marie-Tooth Disease Type 4B2 Provides Insight Into the Roles of MTMR13 and MTMR2 in Schwann Cell Myelination.
phosphatidylinositol-3-phosphatase deficiency
Deficiency of MTMR14 impairs male fertility in Mus musculus.
phosphatidylinositol-3-phosphatase deficiency
Deficiency of myotubularin-related protein 14 influences body weight, metabolism, and inflammation in an age-dependent manner.
phosphatidylinositol-3-phosphatase deficiency
Divergent Functions of the Myotubularin (MTM) Homologs AtMTM1 and AtMTM2 in Arabidopsis thaliana: Evolution of the plant MTM family.
phosphatidylinositol-3-phosphatase deficiency
Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy.
phosphatidylinositol-3-phosphatase deficiency
Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice.
phosphatidylinositol-3-phosphatase deficiency
Mice lacking myotubularin-related protein 14 show accelerated high-fat diet-induced lipid accumulation and inflammation.
phosphatidylinositol-3-phosphatase deficiency
Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment.
phosphatidylinositol-3-phosphatase deficiency
Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs.
phosphoinositide 5-phosphatase deficiency
Inpp5e increases the Rab5 association and phosphatidylinositol 3-phosphate accumulation at the phagosome through an interaction with Rab20.
Polyhydramnios
Whole exome sequencing discloses a pathogenic MTM1 gene mutation and ends the diagnostic odyssey in an older woman with a progressive and seemingly sporadic myopathy: Case report and literature review of MTM1 manifesting female carriers.
Polyneuropathies
Severe Consequences of SAC3/FIG4 Phosphatase Deficiency to Phosphoinositides in Patients with Charcot-Marie-Tooth Disease Type-4J.
Porcine Reproductive and Respiratory Syndrome
Autophagy and innate immunity: Insights from invertebrate model organisms.
Protein Deficiency
A newborn with spinal muscular atrophy type 0 presenting with a clinicopathological picture suggestive of myotubular myopathy.
Reperfusion Injury
MTMR14 protects against hepatic ischemia-reperfusion injury through interacting with AKT signaling in vivo and in vitro.
Seizures
A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of the TRPM1, CHRNA7, and other homozygously deleted genes.
Severe Acute Respiratory Syndrome
Targeting autophagy in disease: established and new strategies.
Spastic Paraplegia, Hereditary
Mouse models for hereditary spastic paraplegia uncover a role of PI4K2A in autophagic lysosome reformation.
Spastic Paraplegia, Hereditary
ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis.
Starvation
MTMR4, a phosphoinositide-specific 3'-phosphatase, regulates TFEB activity and the endocytic and autophagic pathways.
Starvation
PtdIns4P restriction by hydrolase SAC1 decides specific fusion of autophagosomes with lysosomes.
Starvation
Regulation of nutrient-sensitive autophagy by uncoordinated 51-like kinases 1 and 2.
Starvation
The localisation of PtdIns3P in Drosophila fat responds to nutrients but not insulin: a role for Class III but not Class II phosphoinositide 3-kinases.
Starvation
The Ubi brothers reunited.
Stomach Neoplasms
Circular RNA MCTP2 inhibits cisplatin resistance in gastric cancer by miR-99a-5p-mediated induction of MTMR3 expression.
Stomach Neoplasms
miR-181a modulates proliferation, migration and autophagy in AGS gastric cancer cells and downregulates MTMR3.
Stomach Neoplasms
MTMR2 promotes invasion and metastasis of gastric cancer via inactivating IFN?/STAT1 signaling.
Stroke
MTMR14 protects against cerebral stroke through suppressing PTEN-regulated autophagy.
Talipes Cavus
Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking.
Thrombosis
Phosphatidylinositol 3-monophosphate: A novel actor in thrombopoiesis and thrombosis.
Tooth Diseases
Endosomal Targeting of the Phosphoinositide 3-Phosphatase MTMR2 is Regulated by an N-Terminal Phosphorylation Site.
Vesicular Stomatitis
Autophagy and innate immunity: Insights from invertebrate model organisms.
Vesicular Stomatitis
HIV-1 Nef counteracts autophagy restriction by enhancing the association between BECN1 and its inhibitor BCL2 in a PRKN-dependent manner.
Vesicular Stomatitis
Phosphatidylinositol 3-phosphatase myotubularin-related protein 6 (MTMR6) is regulated by small GTPase Rab1B in the early secretory and autophagic pathways.
Vision Disorders
A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of the TRPM1, CHRNA7, and other homozygously deleted genes.
Vocal Cord Paralysis
Vocal cord paralysis in Charcot-Marie-Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature.
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3.1.3.64 phosphatidylinositol-3-phosphatase
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The reliability class of the localization prediction ranges from 1 (very reliable) to 5 (not reliable). 
