| BIN1, Myotubularin, and Dynamin-2 Coordinate T-Tubule Growth in Cardiomyocytes. | BIN1, Myotubularin, and Dynamin-2 Coordinate T-Tubule Growth in Cardiomyocytes.
Perdreau-Dahl H, Lipsett DB, Frisk M, Kermani F, Carlson CR, Brech A, Shen X, Bergan-Dahl A, Hou Y, Tuomainen T, Tavi P, Jones PP, Lunde M, Wasserstrom JA, Laporte J, Ullrich ND, Christensen G, Morth JP, Louch WE. | 06/2/2023 |
| Circ_FURIN knockdown assuages Testosterone-induced human ovarian granulosa-like tumor cell disorders by sponging miR-423-5p to reduce MTM1 expression in polycystic ovary syndrome. | Circ_FURIN knockdown assuages Testosterone-induced human ovarian granulosa-like tumor cell disorders by sponging miR-423-5p to reduce MTM1 expression in polycystic ovary syndrome.
Xu X, Guan R, Gong K, Xie H, Shi L., Free PMC Article | 03/26/2022 |
| X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant. | X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant.
Kraatari M, Tuominen H, Tuupanen S, Haapaniemi T, Moilanen J, Rahikkala E. | 05/1/2021 |
| MTM1 mutation is related to myopathy | Adult MTM1-related myopathy carriers: Classification based on deep phenotyping.
Cocanougher BT, Flynn L, Yun P, Jain M, Waite M, Vasavada R, Wittenbach JD, de Chastonay S, Chhibber S, Innes AM, MacLaren L, Mozaffar T, Arai AE, Donkervoort S, Bönnemann CG, Foley AR., Free PMC Article | 02/15/2020 |
| Three novel mutations in the second cluster of PTP domain in MTM1 were identified in 3 patients with X-linked myotubular myopathy. | Three novel MTM1 pathogenic variants identified in Japanese patients with X-linked myotubular myopathy.
Nishikawa A, Iida A, Hayashi S, Okubo M, Oya Y, Yamanaka G, Takahashi I, Nonaka I, Noguchi S, Nishino I., Free PMC Article | 06/29/2019 |
| our data highlight a safeguarding function of the MTM1-UBQLN2 complex that ensures cytoskeletal integrity to avoid proteotoxic aggregate formation | The MTM1-UBQLN2-HSP complex mediates degradation of misfolded intermediate filaments in skeletal muscle.
Gavriilidis C, Laredj L, Solinhac R, Messaddeq N, Viaud J, Laporte J, Sumara I, Hnia K. | 04/13/2019 |
| This study found in the centronuclear myopathies have mutation in MTM1. | Characterization and genetic diagnosis of centronuclear myopathies in seven Chinese patients.
Zhao Y, Zhao Z, Shen H, Bing Q, Hu J. | 01/5/2019 |
| Using exome sequencing to decipher family history in a healthy individual: Comparison of pathogenic and population MTM1 variants. | Using exome sequencing to decipher family history in a healthy individual: Comparison of pathogenic and population MTM1 variants.
Penon M, Zahed H, Berger V, Su I, Shieh JT., Free PMC Article | 12/22/2018 |
| Expression of several MTMR2 isoforms ameliorates the myopathic phenotype owing to MTM1 loss, with increased muscle force, reduced myofiber atrophy, and reduction of the intracellular disorganization hallmarks associated with myotubular myopathy. | Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy.
Raess MA, Cowling BS, Bertazzi DL, Kretz C, Rinaldi B, Xuereb JM, Kessler P, Romero NB, Payrastre B, Friant S, Laporte J. | 01/27/2018 |
| level of myotubes MTM1 mutations do not dramatically affect calcium homeostasis and calcium release mediated through the ryanodine receptor 1, though they do affect myotube size and nuclear content..mature muscles such as those obtained from patient muscle biopsies exhibit a significant decrease in expression of the ryanodine receptor 1, a decrease in muscle-specific microRNAs and a considerable up-regulation of HDAC4. | Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations.
Bachmann C, Jungbluth H, Muntoni F, Manzur AY, Zorzato F, Treves S. | 09/23/2017 |
| In platelets, MTM1 is a highly active 3-phosphatase mainly associated to membranes and found on the dense granules and to a lesser extent on alpha-granules. | Expression of myotubularins in blood platelets: Characterization and potential diagnostic of X-linked myotubular myopathy.
Mansour R, Severin S, Xuereb JM, Gratacap MP, Laporte J, Buj-Bello A, Tronchère H, Payrastre B. | 05/13/2017 |
| Results confirm that the severe neonatal onset of myopathy in male infants is sufficient to address the direct molecular testing toward the MTM1 gene and, above all, suggest that the number of undiagnosed symptomatic female carriers is probably underestimated | Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.
Savarese M, Musumeci O, Giugliano T, Rubegni A, Fiorillo C, Fattori F, Torella A, Battini R, Rodolico C, Pugliese A, Piluso G, Maggi L, D'Amico A, Bruno C, Bertini E, Santorelli FM, Mora M, Toscano A, Minetti C, Nigro V., Free PMC Article | 01/14/2017 |
| This study demonistrated that MTM1 mutation releated to Centronuclear myopathy. | Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.
Fattori F, Maggi L, Bruno C, Cassandrini D, Codemo V, Catteruccia M, Tasca G, Berardinelli A, Magri F, Pane M, Rubegni A, Santoro L, Ruggiero L, Fiorini P, Pini A, Mongini T, Messina S, Brisca G, Colombo I, Astrea G, Fiorillo C, Bragato C, Moroni I, Pegoraro E, D'Apice MR, Alfei E, Mora M, Morandi L, Donati A, Evilä A, Vihola A, Udd B, Bernansconi P, Mercuri E, Santorelli FM, Bertini E, D'Amico A. | 04/16/2016 |
| mutations in SPEG cause a centronuclear myopathy phenotype as a result of its interaction with MTM1. | SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.
Agrawal PB, Pierson CR, Joshi M, Liu X, Ravenscroft G, Moghadaszadeh B, Talabere T, Viola M, Swanson LC, Haliloğlu G, Talim B, Yau KS, Allcock RJ, Laing NG, Perrella MA, Beggs AH., Free PMC Article | 10/18/2014 |
| Mutations in specific myotubularins such as MTM1 result in myotubular myopathy and Charcot-Marie-Tooth peripheral neuropathy. (Review) | The PTEN and Myotubularin phosphoinositide 3-phosphatases: linking lipid signalling to human disease.
Davies EM, Sheffield DA, Tibarewal P, Fedele CG, Mitchell CA, Leslie NR. | 08/9/2014 |
| Large duplications in MTM1 may account for a number of Centronuclear myopathy cases that have remained genetically unresolved. | Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.
Oliveira J, Oliveira ME, Kress W, Taipa R, Pires MM, Hilbert P, Baxter P, Santos M, Buermans H, den Dunnen JT, Santos R., Free PMC Article | 10/19/2013 |
| Analysis of human XLMTM patient myotubes showed that mutations that disrupt the interaction between myotubularin and MTMR12 proteins result in reduction of both myotubularin and MTMR12 | Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.
Gupta VA, Hnia K, Smith LL, Gundry SR, McIntire JE, Shimazu J, Bass JR, Talbot EA, Amoasii L, Goldman NE, Laporte J, Beggs AH., Free PMC Article | 09/14/2013 |
| data explain the basis for phenotypic variability among human patients with MTM1 p.R69C mutations and establish the Mtm1 p.R69C mouse as a valuable model for the disease, as its less severe phenotype will expand the scope of testable preclinical therapies | Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype.
Pierson CR, Dulin-Smith AN, Durban AN, Marshall ML, Marshall JT, Snyder AD, Naiyer N, Gladman JT, Chandler DS, Lawlor MW, Buj-Bello A, Dowling JJ, Beggs AH., Free PMC Article | 07/14/2012 |
| The patients of Myopathy had a novel heterozygous splice site mutation in the myotubularin gene, MTM1 (c.867+1G>T). Analysis of MTM1 cDNA revealed that the mutation resulted in aberrant splicing with variable exon skipping. | Myopathy in a woman and her daughter associated with a novel splice site MTM1 mutation.
Hedberg C, Lindberg C, Máthé G, Moslemi AR, Oldfors A. | 07/14/2012 |
| A nonsense mutation Arg486STOP was identified in exon 7 of the MTM1 gene. | X-linked myotubular myopathy in a family with two infant siblings: a case with MTM1 mutation.
Jeon JH, Namgung R, Park MS, Park KI, Lee C, Lee JS, Kim SH., Free PMC Article | 09/10/2011 |
| Myotubularin regulates Akt-dependent survival signaling via phosphatidylinositol 3-phosphate. | Myotubularin regulates Akt-dependent survival signaling via phosphatidylinositol 3-phosphate.
Razidlo GL, Katafiasz D, Taylor GS., Free PMC Article | 08/6/2011 |
| Sequence analysis of the entire coding region of the MTM1 gene identified a hemizygous deletion of the T nucleotide at position 431 in exon 6 (c.431delT [p.Leu144fs]), which results in frameshift at codon 144. | Bilateral subdural hygromas and cephalhaematomas in male twins with severe myotubular myopathy caused by a Novel c.431delT (p.Leu144fs) mutation in MTM1 gene.
Chaudhari T, Todd DA, Kent AL, Dopita B, Hallam L, Freckmann ML, Johnston HM. | 06/18/2011 |
| mutations in MTM1 disrupted the MTM1-desmin complex, resulting in abnormal intermediate filament assembly and architecture in muscle cells | Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.
Hnia K, Tronchère H, Tomczak KK, Amoasii L, Schultz P, Beggs AH, Payrastre B, Mandel JL, Laporte J., Free PMC Article | 02/5/2011 |
| hemizygous mutations in the MTM1 gene including c.1261-10A>G in case, 1, c.70C>T (R24X) in case 2, and a previously unreported mutation, c.924_926delCTT(p. F308del), in case 3 | Mutation studies in X-linked myotubular myopathy in three Indian families.
Bijarnia S, Puri RD, Jain M, Kler N, Roy S, Urtizberea JA, Biancalana V, Verma IC. | 08/30/2010 |
| REVIEW : MTM1 and homologous proteins are mutated in several neuromuscular diseases | Endosomal phosphoinositides and human diseases.
Nicot AS, Laporte J., Free PMC Article | 07/28/2010 |