myotubularin

Summary

Gene Symbol: myotubularin
Description: myotubularin 1
Alias: CNM, MTMX, XLMTM, myotubularin, phosphatidylinositol-3,5-bisphosphate 3-phosphatase, phosphatidylinositol-3-phosphate phosphatase
Species: human
Products:     myotubularin

Top Publications

  1. Pierson C, Dulin Smith A, Durban A, Marshall M, Marshall J, Snyder A, et al. Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype. Hum Mol Genet. 2012;21:811-25 pubmed publisher
    ..disease of infancy caused by mutations of MTM1, which encodes the phosphoinositide lipid phosphatase, myotubularin. The Mtm1 knockout (KO) mouse has a severe phenotype and its short lifespan (8 weeks) makes it a challenge to ..
  2. Taylor G, Maehama T, Dixon J. Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate. Proc Natl Acad Sci U S A. 2000;97:8910-5 pubmed
    ..We report here that myotubularin, a protein tyrosine phosphatase required for muscle cell differentiation, is a potent PI(3)P phosphatase...
  3. Laporte J, Blondeau F, Gansmuller A, Lutz Y, Vonesch J, Mandel J. The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles. J Cell Sci. 2002;115:3105-17 pubmed
    b>Myotubularin, the phosphatase mutated in X-linked myotubular myopathy, was shown to dephosphorylate phosphatidylinositol 3-monophosphate (PtdIns3P) and was also reported to interact with nuclear transcriptional regulators from the ..
  4. Nandurkar H, Layton M, Laporte J, Selan C, Corcoran L, Caldwell K, et al. 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;100:8660-5 pubmed
    b>Myotubularin is a dual-specific phosphatase that dephosphorylates phosphatidylinositol 3-phosphate and phosphatidylinositol (3,5)-bisphosphate...
  5. Lecompte O, Poch O, Laporte J. PtdIns5P regulation through evolution: roles in membrane trafficking?. Trends Biochem Sci. 2008;33:453-60 pubmed publisher
    ..By examining PtdIns5P metabolism in this new perspective, we propose a role for PtdIns5P in membrane trafficking from late endosomal compartments to the plasma membrane. ..
  6. Laporte J, Hu L, Kretz C, Mandel J, Kioschis P, Coy J, et al. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet. 1996;13:175-82 pubmed
    ..At least three other genes, one located within 100 kb distal from the MTM1 gene, encode proteins with very high sequence similarities and define, together with the MTM1 gene, a new family of putative tyrosine phosphatases in man...
  7. de Gouyon B, Zhao W, Laporte J, Mandel J, Metzenberg A, Herman G. Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy. Hum Mol Genet. 1997;6:1499-504 pubmed
    A candidate gene, myotubularin, involved in the pathogenesis of X-linked myotubular myopathy (MTM1) was isolated recently...
  8. Laporte J, Guiraud Chaumeil C, Tanner S, Blondeau F, Hu L, Vicaire S, et al. Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy. Eur J Hum Genet. 1998;6:325-30 pubmed
    X-linked recessive myotubular myopathy (XLMTM) is a very severe congenital muscular disease characterised by an impaired maturation of muscle fibres, and caused by defects in the MTM1 gene...
  9. Buj Bello A, Biancalana V, Moutou C, Laporte J, Mandel J. Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy. Hum Mutat. 1999;14:320-5 pubmed
    ..The gene responsible for the disease, MTM1, encodes a dual specificity phosphatase, named myotubularin, which is highly conserved throughout evolution...

More Information

Publications101 found, 100 shown here

  1. Laporte J, Kress W, Mandel J. Diagnosis of X-linked myotubular myopathy by detection of myotubularin. Ann Neurol. 2001;50:42-6 pubmed
    Mutations in the MTM1 gene cause X-linked recessive myotubular myopathy (XLMTM; MIM310400). Myotubularin, the implicated protein, is a phosphoinositide phosphatase that belongs to a large protein family conserved through evolution that ..
  2. Buj Bello A, Laugel V, Messaddeq N, Zahreddine H, Laporte J, Pellissier J, et al. The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice. Proc Natl Acad Sci U S A. 2002;99:15060-5 pubmed
    b>Myotubularin is a ubiquitously expressed phosphatase that acts on phosphatidylinositol 3-monophosphate [PI(3)P], a lipid implicated in intracellular vesicle trafficking and autophagy...
  3. Biancalana V, Caron O, Gallati S, Baas F, Kress W, Novelli G, et al. Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. Hum Genet. 2003;112:135-42 pubmed
    ..It is caused by mutations in the MTM1 gene, which encodes a phosphatase called myotubularin, which has been highly conserved during evolution, down to yeasts ( S. cerevisiae and S. pombe)...
  4. Tsujita K, Itoh T, Ijuin T, Yamamoto A, Shisheva A, Laporte J, et al. Myotubularin regulates the function of the late endosome through the gram domain-phosphatidylinositol 3,5-bisphosphate interaction. J Biol Chem. 2004;279:13817-24 pubmed
    b>Myotubularin and related proteins constitute a large and highly conserved family possessing phosphoinositide 3-phosphatase activity, although not all members possess this activity...
  5. Tanner S, Laporte J, Guiraud Chaumeil C, Liechti Gallati S. Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene. Hum Mutat. 1998;11:62-8 pubmed
    X-linked recessive myotubular myopathy (XLMTM; MTM1) is a severe neonatal disorder often causing perinatal death of the affected males. The responsible gene, designated MTM1, was localized to proximal Xq28 and recently isolated...
  6. Laporte J, Biancalana V, Tanner S, Kress W, Schneider V, Wallgren Pettersson C, et al. MTM1 mutations in X-linked myotubular myopathy. Hum Mutat. 2000;15:393-409 pubmed
    ..This gene encodes a dual-specificity phosphatase named myotubularin, defining a large gene family highly conserved through evolution (which includes the putative anti-phosphatase ..
  7. Laporte J, Liaubet L, Blondeau F, Tronchère H, Mandel J, Payrastre B. Functional redundancy in the myotubularin family. Biochem Biophys Res Commun. 2002;291:305-12 pubmed
    b>Myotubularin-related genes define a novel highly conserved family of eukaryotic proteins of at least 11 human members. The hMTM1 gene that codes for myotubularin is mutated in X-linked myotubular myopathy, a severe congenital disease...
  8. Wishart M, Dixon J. PTEN and myotubularin phosphatases: from 3-phosphoinositide dephosphorylation to disease. Trends Cell Biol. 2002;12:579-85 pubmed
    The phosphatase and tensin homolog deleted on chromosome ten (PTEN) and myotubularin (MTM1) represent subfamilies of protein tyrosine phosphatases whose principal physiological substrates are D3-phosphorylated inositol phospholipids...
  9. Schaletzky J, Dove S, Short B, Lorenzo O, Clague M, Barr F. Phosphatidylinositol-5-phosphate activation and conserved substrate specificity of the myotubularin phosphatidylinositol 3-phosphatases. Curr Biol. 2003;13:504-9 pubmed
    ..We propose that the myotubularin family of enzymes utilize both PtdIns3P and PtdIns(3,5)P2 as substrates, and that PtdIns5P functions in a ..
  10. Yu S, Manson J, White S, Bourne A, Waddy H, Davis M, et al. X-linked myotubular myopathy in a family with three adult survivors. Clin Genet. 2003;64:148-52 pubmed
    ..To our knowledge, this is the third X-linked myotubular myopathy family, with multiple adult survivors, to be reported in the literature. ..
  11. Tosch V, Vasli N, Kretz C, Nicot A, Gasnier C, Dondaine N, et al. Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations. Neuromuscul Disord. 2010;20:375-81 pubmed publisher
    ..It is caused by mutations in the MTM1 gene encoding the 3-phosphoinositides phosphatase myotubularin. Mutations in dynamin 2 and amphiphysin 2 genes lead to autosomal forms of centronuclear myopathy (CNM)...
  12. Hnia K, Tronchère H, Tomczak K, Amoasii L, Schultz P, Beggs A, et al. Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle. J Clin Invest. 2011;121:70-85 pubmed publisher
    ..Here, we demonstrate that myotubularin (MTM1), which is mutated in individuals with X-linked centronuclear myopathy (XLCNM; also known as myotubular ..
  13. Blondeau F, Laporte J, Bodin S, Superti Furga G, Payrastre B, Mandel J. Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway. Hum Mol Genet. 2000;9:2223-9 pubmed
    ..The MTM1 gene encodes a protein (myotubularin) with a phosphotyrosine phosphatase consensus...
  14. Oner A, Gonen Z, Sinim N, Cetin M, Ozkul Y. Subretinal adipose tissue-derived mesenchymal stem cell implantation in advanced stage retinitis pigmentosa: a phase I clinical safety study. Stem Cell Res Ther. 2016;7:178 pubmed
    ..Five patients had no ocular complications. One of the patients experienced choroidal neovascular membrane (CNM) at the implantation site and received an intravitreal anti-vascular endothelial growth factor drug once...
  15. Fogarty E, Brewer M, Rodriguez Molina J, Law W, Ma K, Steinberg N, et al. SOX10 regulates an alternative promoter at the Charcot-Marie-Tooth disease locus MTMR2. Hum Mol Genet. 2016;25:3925-3936 pubmed publisher
    ..Loss-of-function mutations in the gene encoding myotubularin-related protein 2 (MTMR2) cause Charcot-Marie-Tooth disease type 4B1 (CMT4B1), a severe demyelinating ..
  16. Feng M, He Z, Wang Y, Yan X, Zhang J, Hu Z, et al. Isolation of the Binding Protein of Periplocoside E from BBMVs in Midgut of the Oriental Amyworm Mythimna separata Walker (Lepidoptera: Noctuidae) through Affinity Chromatography. Toxins (Basel). 2016;8: pubmed publisher
    ..adenine dinucleotide health (NADH) dehydrogenase subunit 5, phosphatidylinositol 3-phosphate 3-phosphatase myotubularin, actin, uncharacterized family 31 glucosidase KIAA1161, and 2OG-Fe(2) oxygenase superfamily protein) were ..
  17. Volozonoka L, Perminov D, Kornejeva L, Alkšere B, Novikova N, Pīmane E, et al. Performance comparison of two whole genome amplification techniques in frame of multifactor preimplantation genetic testing. J Assist Reprod Genet. 2018;35:1457-1472 pubmed publisher
  18. Xiao C, Qiu S, Li X, Luo D, Liu G. EDTP/MTMR14: a novel target for improved survivorship to prolonged anoxia and cellular protein aggregates. Neurosci Lett. 2019;: pubmed publisher
    ..A mammalian homologous gene MTMR14, which encodes the myotubularin-related protein 14, negatively regulates autophagy...
  19. Ndamukong I, Jones D, Lapko H, Divecha N, Avramova Z. Phosphatidylinositol 5-phosphate links dehydration stress to the activity of ARABIDOPSIS TRITHORAX-LIKE factor ATX1. PLoS ONE. 2010;5:e13396 pubmed publisher
    ..The Arabidopsis homolog of myotubularin (AtMTM1) is capable of generating PtdIns5P and here, we show that AtMTM1 is essential for the induced increase ..
  20. Liska F, Chylíková B, Janků M, Seda O, Vernerova Z, Pravenec M, et al. Splicing mutation in Sbf1 causes nonsyndromic male infertility in the rat. Reproduction. 2016;152:215-23 pubmed publisher
    ..a G to A substitution in a canonical 'AG' splice site of intron 37 in Sbf1 (SET binding factor 1, alias myotubularin-related protein 5)...
  21. Alejandro S, Cailliatte R, Alcon C, Dirick L, Domergue F, Correia D, et al. Intracellular Distribution of Manganese by the Trans-Golgi Network Transporter NRAMP2 Is Critical for Photosynthesis and Cellular Redox Homeostasis. Plant Cell. 2017;29:3068-3084 pubmed publisher
  22. Naranuntarat A, Jensen L, Pazicni S, Penner Hahn J, Culotta V. The interaction of mitochondrial iron with manganese superoxide dismutase. J Biol Chem. 2009;284:22633-40 pubmed publisher
    ..In all cases where disruptions in iron homeostasis inactivated Sod2p, we observed an increase in mitochondrial Isu proteins. These studies indicate that the Isu proteins and the iron-sulfur pathway can donate iron to Sod2p...
  23. Waugh M. Chromosomal Instability and Phosphoinositide Pathway Gene Signatures in Glioblastoma Multiforme. Mol Neurobiol. 2016;53:621-630 pubmed publisher
  24. Abdalla Moady T, Peleg A, Sadeh O, Badarneh K, Fares F. 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. Mol Neurobiol. 2018;55:3546-3550 pubmed publisher
    ..1877_1878insAGAG, p.Arg630fs) in the myotubularin-related protein-2 gene (MTMR2), which resulted in an erroneous C-terminal sequence and extension by 15 amino ..
  25. Csanyi G, Feck D, Ghoshal P, Singla B, Lin H, Nagarajan S, et al. CD47 and Nox1 Mediate Dynamic Fluid-Phase Macropinocytosis of Native LDL. Antioxid Redox Signal. 2017;26:886-901 pubmed publisher
    ..and NADPH oxidase 1 (Nox1) signaling, inhibition of phosphoinositide 3-kinase, and transcriptional knockdown of myotubularin-related protein 6 abolished TSP1-induced macropinocytosis...
  26. Guo L, Martens C, Bruno D, Porcella S, Yamane H, Caucheteux S, et al. Lipid phosphatases identified by screening a mouse phosphatase shRNA library regulate T-cell differentiation and protein kinase B AKT signaling. Proc Natl Acad Sci U S A. 2013;110:E1849-56 pubmed publisher
    ..We concentrated on two lipid phosphatases, the myotubularin-related protein (MTMR)9 and -7...
  27. Ionita M, Crică L, Voicu Ş, Dinescu S, Miculescu F, Costache M, et al. Synergistic effect of carbon nanotubes and graphene for high performance cellulose acetate membranes in biomedical applications. Carbohydr Polym. 2018;183:50-61 pubmed publisher
    Comparative evaluation of innovative combinations of three types of carbon nanomaterial (CNM) highlighted membranes with important potential for biomedical applications...
  28. Hohendahl A, Roux A, Galli V. Structural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2. J Struct Biol. 2016;196:37-47 pubmed publisher
    ..We discuss how the specific functions, isoforms and partners (myotubularin in particular) of these two proteins can lead to the establishment of muscle-specific features.
  29. Kovacs S, Korcsik J, Szabo H, Bodi I, Katona M, Bereg E, et al. [Myotubular myopathy. Case report and review of the literature]. Orv Hetil. 2007;148:1757-62 pubmed
    ..The biopsy showed the appearance of myotubular myopathy. The diagnosis was further confirmed by genetic analysis revealing a novel frameshift mutation (1314-1315insT) of the myotubularin-coding MTM1 gene.
  30. Fajardo V, Bombardier E, McMillan E, TRAN K, Wadsworth B, Gamu D, et al. Phospholamban overexpression in mice causes a centronuclear myopathy-like phenotype. Dis Model Mech. 2015;8:999-1009 pubmed publisher
    Centronuclear myopathy (CNM) is a congenital myopathy that is histopathologically characterized by centrally located nuclei, central aggregation of oxidative activity, and type I fiber predominance and hypotrophy...
  31. Lin P, Liu X, Zhao D, Dai T, Wu H, Gong Y, et al. DNM2 mutations in Chinese Han patients with centronuclear myopathy. Neurol Sci. 2016;37:995-8 pubmed publisher
    Centronuclear myopathy (CNM) is a congenital myopathy characterized by an abnormally high number of muscle fibers with centrally located nuclei...
  32. Quyen Chau N, Ménard Moyon C, Kostarelos K, Bianco A. Multifunctional carbon nanomaterial hybrids for magnetic manipulation and targeting. Biochem Biophys Res Commun. 2015;468:454-62 pubmed publisher
    ..The remarkable characteristics of CNMs and MNPs can be combined leading to CNM/MNP hybrids which offer numerous promising, desirable and strikingly advantageous properties for improved ..
  33. Mack D, Poulard K, Goddard M, Latournerie V, Snyder J, Grange R, et al. Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs. Mol Ther. 2017;25:839-854 pubmed publisher
    X-linked myotubular myopathy (XLMTM) results from MTM1 gene mutations and myotubularin deficiency. Most XLMTM patients develop severe muscle weakness leading to respiratory failure and death, typically within 2 years of age...
  34. Esimbekova E, Nemtseva E, Bezrukikh A, Jukova G, Lisitsa A, Lonshakova Mukina V, et al. Bioluminescent enzyme inhibition-based assay to predict the potential toxicity of carbon nanomaterials. Toxicol In Vitro. 2017;45:128-133 pubmed publisher
    ..A bioluminescent enzyme inhibition-based assay was applied to predict the potential toxicity of carbon nanomaterials (CNM) presented by single- and multi-walled nanotubes (SWCNT and MWCNT) and aqueous solutions of hydrated fullerene ?<..
  35. Häne B, Rogers R, Schwartz C. Germline mosaicism in X-linked myotubular myopathy. Clin Genet. 1999;56:77-81 pubmed
    ..The gene product is a 603 amino acid protein named myotubularin. A small domain in its sequence shows high homology to a consensus active site of tyrosine phosphatases, a ..
  36. Fraysse B, Guicheney P, Bitoun M. Calcium homeostasis alterations in a mouse model of the Dynamin 2-related centronuclear myopathy. Biol Open. 2016;5:1691-1696 pubmed publisher
    Autosomal dominant centronuclear myopathy (CNM) is a rare congenital myopathy characterized by centrally located nuclei in muscle fibers...
  37. Kutchukian C, Lo Scrudato M, Tourneur Y, Poulard K, Vignaud A, Berthier C, et al. Phosphatidylinositol 3-kinase inhibition restores Ca2+ release defects and prolongs survival in myotubularin-deficient mice. Proc Natl Acad Sci U S A. 2016;113:14432-14437 pubmed
    Mutations in the gene encoding the phosphoinositide 3-phosphatase myotubularin (MTM1) are responsible for a pediatric disease of skeletal muscle named myotubular myopathy (XLMTM)...
  38. Zambon A, Natali Sora M, Cantarella G, Cerri F, Quattrini A, Comi G, et al. 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. Neuromuscul Disord. 2017;27:487-491 pubmed publisher
    ..We suggest that laryngeal involvement might be a relevant and initial feature of early-onset CMT4B1 neuropathy. Thus, affected patients should undergo early laryngological evaluation in order to prompt an appropriate management. ..
  39. Bartosik K, Sochacka E, Leszczynska G. Post-synthetic conversion of 5-pivaloyloxymethyluridine present in a support-bound RNA oligomer into biologically relevant derivatives of 5-methyluridine. Org Biomol Chem. 2017;15:2097-2103 pubmed publisher
    ..5-methyluridines (mnm5U, cmnm5U, Ï„m5U, nm5U, inm5U or cnm5U)...
  40. Raess M, Cowling B, Bertazzi D, Kretz C, Rinaldi B, Xuereb J, et al. Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy. Hum Mol Genet. 2017;26:3736-3748 pubmed publisher
    ..They also provide the proof-of-concept that expression of the neuropathy-associated MTMR2 gene improves the MTM1-associated myopathy, thus identifying MTMR2 as a novel therapeutic target for myotubular myopathy. ..
  41. Sinha A, Dhanjai -, Jain R, Zhao H, Karolia P, Jadon N. Voltammetric sensing based on the use of advanced carbonaceous nanomaterials: a review. Mikrochim Acta. 2018;185:89 pubmed publisher
    ..Functionalized CNM-modified electrode interfaces have demonstrated their prominent role in biological, environmental, pharmaceutical, ..
  42. Song S, Kang M, Yoo N, Lee S. Mutational analysis of mononucleotide repeats in dual specificity tyrosine phosphatase genes in gastric and colon carcinomas with microsatellite instability. APMIS. 2010;118:389-93 pubmed publisher
    ..The data suggested that alterations in the CDC14A and MTMR3 genes may play a role in the development of GC and CRC with MSI-H by deregulating phosphatase functions possibly together with mutations of classical PTP genes. ..
  43. Choudhury P, Mandal D, Brahmachari S, Das P. Hydrophobic End-Modulated Amino-Acid-Based Neutral Hydrogelators: Structure-Specific Inclusion of Carbon Nanomaterials. Chemistry. 2016;22:5160-72 pubmed publisher
    ..The involvement of various forces in self-aggregated gelation and physicochemical changes occurring through CNM inclusion are examined by spectroscopic and microscopic techniques...
  44. Gavriilidis C, Laredj L, Solinhac R, Messaddeq N, Viaud J, Laporte J, et al. The MTM1-UBQLN2-HSP complex mediates degradation of misfolded intermediate filaments in skeletal muscle. Nat Cell Biol. 2018;20:198-210 pubmed publisher
    ..Thus, our data highlight a safeguarding function of the MTM1-UBQLN2 complex that ensures cytoskeletal integrity to avoid proteotoxic aggregate formation. ..
  45. Kim Y, Kim D, Kwon M, Cho K, Kim J, Yong C, et al. Clopidogrel Napadisilate Monohydrate Loaded Surface-Modified Solid Dispersion: Physicochemical Characterization and in Vivo Evaluation. Biol Pharm Bull. 2015;38:1033-40 pubmed publisher
    To develop a novel solid dispersion of clopidogrel napadisilate monohydrate (CNM) with improved stability and oral bioavailability, surface-modified solid dispersions were prepared by spray-drying using water as a solvent, Tween 80 as a ..
  46. Yoo K, Son J, Lee J, Shin W, Im D, Kim S, et al. Structure of the catalytic phosphatase domain of MTMR8: implications for dimerization, membrane association and reversible oxidation. Acta Crystallogr D Biol Crystallogr. 2015;71:1528-39 pubmed publisher
    b>Myotubularin-related proteins are a large family of phosphoinositide phosphatases; their activity, stability and subcellular localization are regulated by dimeric interactions with other members of the family...
  47. Hao F, Itoh T, Morita E, Shirahama Noda K, Yoshimori T, Noda T. The PtdIns3-phosphatase MTMR3 interacts with mTORC1 and suppresses its activity. FEBS Lett. 2016;590:161-73 pubmed publisher
    ..We previously reported that overexpression of phosphatase-deficient MTMR3, a member of the myotubularin phosphatidylinositol (PI) 3-phosphatase family, leads to induction of autophagy...
  48. Cowling B, Prokic I, Tasfaout H, Rabai A, Humbert F, Rinaldi B, et al. Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation. J Clin Invest. 2017;127:4477-4487 pubmed publisher
    ..Our data suggest that DNM2 modulation has potential as a therapeutic approach for patients with CNM and BIN1 defects...
  49. Inenaga C, Hokamura K, Nakano K, Nomura R, Naka S, Ohashi T, et al. A Potential New Risk Factor for Stroke: Streptococcus Mutans With Collagen-Binding Protein. World Neurosurg. 2018;113:e77-e81 pubmed publisher
    ..particular kinds of Streptococcus mutans (SM) known as dental caries pathogens contain a collagen-binding protein, Cnm, and show platelet aggregation inhibition and matrix metalloproteinase-9 activation...
  50. Smulian E, Zahedi L, Hurvitz J, Talbot A, Williams A, Julian Z, et al. Obstetric Provider Trainees in Georgia: Characteristics and Attitudes About Practice in Obstetric Provider Shortage Areas. Matern Child Health J. 2016;20:1341-8 pubmed publisher
    ..of Georgia's obstetric trainees (obstetrics and gynecology (OB/GYN) residents and certified nurse midwifery (CNM) students) to practice in areas of Georgia that lack obstetric providers and services, i.e. rural Georgia...
  51. Canavati S, Quintero C, Bou T, Khieu V, Leang R, Lek D, et al. World Malaria Day 2016 in the Kingdom of Cambodia: high-level governmental support embodies the WHO call for "political will to end malaria". Malar J. 2016;15:303 pubmed publisher
    ..event was well-planned and coordinated by the National Programme for Parasitology, Entomology and Malaria Control (CNM), and included key contributions from high-ranking political figures, such as His Excellency (H...
  52. Hei H, Song Y, Qin J. A nomogram predicting contralateral central neck lymph node metastasis for papillary thyroid carcinoma. J Surg Oncol. 2016;114:703-707 pubmed publisher
    ..An individualized estimation of the contralateral central neck metastasis (CNM) risk would assist in the tailoring of treatment for PTC patients...
  53. da Cunha M, Franco G, Franchin M, Beutler J, de Alencar S, Ikegaki M, et al. Prediction of pharmacokinetic and toxicological parameters of a 4-phenylcoumarin isolated from geopropolis: In silico and in vitro approaches. Toxicol Lett. 2016;263:6-10 pubmed publisher
    ..Cinnamoyloxy-mammeisin (CNM) isolated from Brazilian M...
  54. Engel A. Genetic basis and phenotypic features of congenital myasthenic syndromes. Handb Clin Neurol. 2018;148:565-589 pubmed publisher
    ..Identification of the genetic basis of each CMS is important not only for genetic counseling and disease prevention but also for therapy, because therapeutic agents that benefit one type of CMS can be harmful in another. ..
  55. Pierson C, Agrawal P, Blasko J, Beggs A. Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy. Neuromuscul Disord. 2007;17:562-8 pubmed
    We aimed to correlate pathologic findings with MTM1 mutation type in a series of molecularly defined XLMTM cases. Clinical data from 15 XLMTM patients and their corresponding 16 muscle biopsies were studied...
  56. Trochet D, Prudhon B, Beuvin M, Peccate C, Lorain S, Julien L, et al. Allele-specific silencing therapy for Dynamin 2-related dominant centronuclear myopathy. EMBO Mol Med. 2018;10:239-253 pubmed publisher
    ..We used this strategy for autosomal-dominant centronuclear myopathy (CNM), a rare neuromuscular disorder without available treatment due to heterozygous mutations in the DNM2 gene ..
  57. Tronchère H, Laporte J, Pendaries C, Chaussade C, Liaubet L, Pirola L, et al. Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cells. J Biol Chem. 2004;279:7304-12 pubmed
    MTM1, the gene encoding myotubularin (MTM1), is mutated in the X-linked myotubular myopathy (XLMTM), a severe genetic muscular disorder...
  58. Abath Neto O, Silva M, Martins C, Oliveira A, Reed U, Biancalana V, et al. A Study of a Cohort of X-Linked Myotubular Myopathy at the Clinical, Histologic, and Genetic Levels. Pediatr Neurol. 2016;58:107-12 pubmed publisher
    ..It is caused by mutations in MTM1, which codes for the phosphoinositides phosphatase myotubularin. In this work, we established and detailed a new cohort of six patients at the clinical, histologic, and ..
  59. Savarese M, Musumeci O, Giugliano T, Rubegni A, Fiorillo C, Fattori F, et al. Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers. Neuromuscul Disord. 2016;26:292-9 pubmed publisher
    Mutations in the MTM1 gene cause X-linked myotubular myopathy (XLMTM), characterized by neonatal hypotonia and respiratory failure, and are responsible for a premature mortality in affected males...
  60. Yuan Z, Chen Y, Zhang X, Zhou X, Li M, Chen H, et al. Silencing myotubularin related protein 7 enhances proliferation and early differentiation of C2C12 myoblast. Biochem Biophys Res Commun. 2017;484:592-597 pubmed publisher
    b>Myotubularin related protein 7 (MTMR7) is a key member of the highly conserved myotubularin related proteins (MTMRs) family, which has phosphatase activity...
  61. Kuster A, Arnoux J, Barth M, Lamireau D, Houcinat N, Goizet C, et al. Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles. J Inherit Metab Dis. 2018;41:129-139 pubmed publisher
    ..To identify the specific molecular cause of abnormal NT profiles, (targeted) genomics might be used, to improve diagnosis and allow early treatment of complex and rare neurological genetic diseases. ..
  62. Boyle D, Sutton P, Handy R, Henry T. Intravenous injection of unfunctionalized carbon-based nanomaterials confirms the minimal toxicity observed in aqueous and dietary exposures in juvenile rainbow trout (Oncorhynchus mykiss). Environ Pollut. 2018;232:191-199 pubmed publisher
    ..nanomaterials (CNMs) have been conducted in fishes; however, different approaches have been used to make CNM dispersions and dose tanks for aqueous exposures, and to prepare food containing CNMs for dietary studies...
  63. Magnussen E. [In memoriam: Elisabeth Larsen]. Sygeplejersken. 1975;75:16-7 pubmed
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    ..The gene responsible, MTM1, was identified recently by positional cloning, and encodes a protein (myotubularin) with a tyrosine phosphatase domain (PTP)...
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    Although X-linked myotubular myopathy (XLMTM) is a recessive disorder, heterozygous female carriers of MTM1 mutations may present with limb girdle and facial weakness...
  66. Herman G, Kopacz K, Zhao W, Mills P, Metzenberg A, Das S. Characterization of mutations in fifty North American patients with X-linked myotubular myopathy. Hum Mutat. 2002;19:114-21 pubmed
    ..Clinical information collected on the majority of patients helps to further correlate genotype with phenotype, and implications of these data for genetic counseling in families are discussed. ..
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    ..myopathy is a muscle disorder caused by mutations on the myotubular myopathy-1 (MTM-1) gene, coding for myotubularin a 65-kDa polypeptide similar to protein phosphatases...
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    X-linked myotubular myopathy (XLMTM) is a rare congenital muscle disorder, caused by mutations in the MTM1 gene...
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    b>Myotubularin (MTM1) and amphiphysin 2 (BIN1) are two proteins mutated in different forms of centronuclear myopathy, but the functional and pathological relationship between these two proteins was unknown...
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    ..While the phosphoinositide 3-phosphatase myotubularin 4 (MTMR4) has an established role in regulating autophagy and cellular PI(3)P-content, two processes associated ..
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    ..We also provide in vivo evidence in the congenital myotubular myopathy mouse model (knock-out for the myotubularin coding gene Mtm1) that a down-regulated myostatin pathway can be reactivated by correcting the underlying gene ..
  73. Laporte J, Blondeau F, Buj Bello A, Tentler D, Kretz C, Dahl N, et al. Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. Hum Mol Genet. 1998;7:1703-12 pubmed
    ..The corresponding protein, myotubularin, contains the consensus active site of tyrosine phosphatases (PTP) but otherwise shows no homology to other ..
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    ..Database searches revealed homology of myotubularin and all related peptides to the cisplatin resistance-associated alpha protein, which implicates an as yet ..
  75. Nishino I, Minami N, Kobayashi O, Ikezawa M, Goto Y, Arahata K, et al. MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy. Neuromuscul Disord. 1998;8:453-8 pubmed
    ..was found to be associated with mutations in the MTM1 gene in Xq28 encoding the putative tyrosine phosphatase, myotubularin. We screened the MTM1 gene for mutations in seven Japanese patients (six males and one female) who had the ..
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    X-linked myotubular myopathy (XLMTM) is a congenital muscle disorder mainly affecting newborn males. Neonatal muscle weakness and hypotonia usually leads to a rapid demise...
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    ..This is the first report of cases of X-linked myotubular myopathy from India. ..
  78. Gupta V, Hnia K, Smith L, Gundry S, McIntire J, Shimazu J, et al. Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish. PLoS Genet. 2013;9:e1003583 pubmed publisher
    X-linked myotubular myopathy (XLMTM) is a congenital disorder caused by mutations of the myotubularin gene, MTM1...
  79. Agrawal P, Pierson C, Joshi M, Liu X, Ravenscroft G, Moghadaszadeh B, et al. SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. Am J Hum Genet. 2014;95:218-26 pubmed publisher
    ..X-linked myotubular myopathy, the most common severe form of CNM, is caused by mutations in MTM1, encoding myotubularin (MTM1), a lipid phosphatase...
  80. Collins M, Mandigo T, Camuglia J, Vazquez G, Anderson A, Hudson C, et al. Emery-Dreifuss muscular dystrophy-linked genes and centronuclear myopathy-linked genes regulate myonuclear movement by distinct mechanisms. Mol Biol Cell. 2017;28:2303-2317 pubmed publisher
    ..we disrupted the expression of genes linked to Emery-Dreifuss muscular dystrophy (EDMD) and centronuclear myopathy (CNM) in Drosophila and evaluated the position of the nuclei...
  81. Esberg A, Sheng N, Mårell L, Claesson R, Persson K, Boren T, et al. Streptococcus Mutans Adhesin Biotypes that Match and Predict Individual Caries Development. EBioMedicine. 2017;24:205-215 pubmed publisher
    ..mutans with sucrose-independent adhesion to host DMBT1 (i.e. SpaP A, B or C) and collagen (i.e. Cnm, Cbm) match and predict individual differences in caries development...
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    X-linked myotubular myopathy (XLMTM), characterized by severe hypotonia, weakness, respiratory distress, and early mortality, is rare and natural history studies are few.
  83. Buj Bello A, Furling D, Tronchère H, Laporte J, Lerouge T, Butler Browne G, et al. Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells. Hum Mol Genet. 2002;11:2297-307 pubmed
    The myotubularin-related 1 (MTMR1) gene belongs to a highly conserved family of eucaryotic phosphatases, with at least 11 members in humans...
  84. Tsai T, Horinouchi H, Noguchi S, Minami N, Murayama K, Hayashi Y, et al. Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism. Neuromuscul Disord. 2005;15:245-52 pubmed
    ..A chimeric fusion transcript was detected in patient's muscle by RT-PCR, suggesting this fusion gene product avoids the phenotype. This deletion led us to refine the critical region of CXorf6 for the development of male genitalia. ..
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    ..and further specified by genetic analysis, revealing a novel frameshift mutation (1314-1315insT) of the myotubularin-coding MTM1 gene...
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    b>Myotubularin is a 3-phosphoinositide phosphatase that is mutated in X-linked myotubular myopathy, a severe neonatal disorder in which skeletal muscle development and/or regeneration is impaired...
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    ..Both patients had a novel heterozygous splice site mutation in the myotubularin gene, MTM1 (c.867+1G>T)...
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    ..Members of this family are mutated in genetic diseases including myotubularin 1 (MTM1) and myotubularin-related protein 2 (MTMR2) which mutations are responsible of X-linked centronuclear ..
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    ..Comparison of the interactome and expression data for each myotubularin highlights specific protein complexes and tissues where myotubularins should have a key regulatory role.
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    ..of myotubular myopathy (XLMTM) is caused by mutations in the gene encoding the ubiquitous lipid phosphatase myotubularin, an enzyme specifically dephosphorylating phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-..
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    An increasing amount of carbon-based nanomaterials (CNM) (mostly fullerenes, carbon nanotubes and graphene) has been observed in aquatic systems over the last years...