| An integrative analysis reveals the prognostic value and potential functions of MTMR2 in hepatocellular carcinoma. | An integrative analysis reveals the prognostic value and potential functions of MTMR2 in hepatocellular carcinoma.
Yao Y, Lai J, Yang Y, Wang G, Lv J., Free PMC Article | 11/3/2023 |
| Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report. | Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report.
Halperin D, Sapir A, Wormser O, Drabkin M, Yogev Y, Dolgin V, Flusser H, Birk OS. | 06/19/2021 |
| MTMR2 promotes the progression of NK/T cell lymphoma by targeting JAK1. | MTMR2 promotes the progression of NK/T cell lymphoma by targeting JAK1.
Wang J, He AL, Zhang WG, Cao XM, Chen YX, Liu J, Zhao WH, Yang Y, Wang JL, Liu HL, Ma XR. | 05/8/2021 |
| Our findings suggest that MTMR2 is an important promoter in gastric cancer (GC) invasion and metastasis by inactivating IFNgamma/STAT1 signaling and may act as a new prognostic indicator and a potential therapeutic target for GC. | MTMR2 promotes invasion and metastasis of gastric cancer via inactivating IFNγ/STAT1 signaling.
Jiang L, Liu JY, Shi Y, Tang B, He T, Liu JJ, Fan JY, Wu B, Xu XH, Zhao YL, Qian F, Cui YH, Yu PW., Free PMC Article | 12/21/2019 |
| report the case of a Charcot-Marie-Tooth type 4B1 patient with a novel mutation in the MTMR2 gene (nonsense mutation in exon 6c.484 C>T; p.Arg162*) who started to experience stridor and was diagnosed with bilateral vocal cord paralysis at the age of 18 months - case report and review | 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.
Zambon AA, Natali Sora MG, Cantarella G, Cerri F, Quattrini A, Comi G, Previtali SC, Bolino A., Free PMC Article | 03/24/2018 |
| 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 |
| The expression of the endogenous transcript is induced in a heterologous cell line by ectopically expressing SOX10, and is nearly ablated in Schwann cells by impairing SOX10 function. Intriguingly, overexpressing the two MTMR2 protein isoforms in HeLa cells revealed that both localize to nuclear puncta and the shorter isoform displays higher nuclear localization compared to the longer isoform | SOX10 regulates an alternative promoter at the Charcot-Marie-Tooth disease locus MTMR2.
Fogarty EA, Brewer MH, Rodriguez-Molina JF, Law WD, Ma KH, Steinberg NM, Svaren J, Antonellis A., Free PMC Article | 07/22/2017 |
| we identified a novel mutation in MTMR2 in a family with CMT4B1 and myelin outfoldings | A novel homozygous mutation in the MTMR2 gene in two siblings with 'hypermyelinating neuropathy'.
Luigetti M, Bolino A, Scarlino S, Sabatelli M. | 01/25/2014 |
| these results reveal that MTMR2 compartmentalization and potential subsequent effects on endosome maturation and endosome signaling are dynamically regulated through MAPK-mediated differential phosphorylation events. | Differential phosphorylation of the phosphoinositide 3-phosphatase MTMR2 regulates its association with early endosomal subtypes.
Franklin NE, Bonham CA, Xhabija B, Vacratsis PO. | 12/21/2013 |
| Mutations in LITAF, RAB7, LMNA, and MTMR2 genes are rare in Chinese Charcot-Marie-Tooth disease (CMT) patients. | [Mutation analysis of LITAF, RAB7, LMNA and MTMR2 genes in Chinese Charcot-Marie-Tooth disease.].
Zhang RX, Guo P, Ren ZJ, Zhao GH, Liu SM, Liu T, Zi XH, Hu ZM, Xia K, Tang BS. | 11/24/2012 |
| Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes. | Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes.
Nouioua S, Hamadouche T, Funalot B, Bernard R, Bellatache N, Bouderba R, Grid D, Assami S, Benhassine T, Levy N, Vallat JM, Tazir M. | 01/21/2012 |
| MTMR2 phosphorylation is likely to be a critical mechanism by which MTMR2 access to its lipid substrate(s) is temporally and spatially regulated, thereby contributing to the control of downstream endosome maturation events. | Endosomal targeting of the phosphoinositide 3-phosphatase MTMR2 is regulated by an N-terminal phosphorylation site.
Franklin NE, Taylor GS, Vacratsis PO., Free PMC Article | 07/2/2011 |
| Loss of MTMR2, by decreasing Schwann cells proliferation and survival, may impair the first stages of myelination of the peripheral nervous system | Silencing of the Charcot-Marie-Tooth associated MTMR2 gene decreases proliferation and enhances cell death in primary cultures of Schwann cells.
Chojnowski A, Ravisé N, Bachelin C, Depienne C, Ruberg M, Brugg B, Laporte J, Baron-Van Evercooren A, LeGuern E. | 07/28/2010 |
| REVIEW : MTMR2 and homologous proteins are mutated in several neuromuscular diseases | Endosomal phosphoinositides and human diseases.
Nicot AS, Laporte J., Free PMC Article | 07/28/2010 |
| A phylogenetic study revealing co-evolution of myotubularins with PI 3-kinase class III complex | PtdIns5P regulation through evolution: roles in membrane trafficking?
Lecompte O, Poch O, Laporte J. | 07/28/2010 |
| REVIEW : MTMR2 belongs to the myotubularin family of phosphoinositides phosphatases | Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases.
Laporte J, Bedez F, Bolino A, Mandel JL. | 07/28/2010 |
| MTMR2 shares similar phosphatase activity and substrate specificity than its homologous proteins MTM1 and MTMR3 | Functional redundancy in the myotubularin family.
Laporte J, Liaubet L, Blondeau F, Tronchère H, Mandel JL, Payrastre B. | 07/28/2010 |
| Observational study of genotype prevalence. (HuGE Navigator) | Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
Boerkoel CF, Takashima H, Garcia CA, Olney RK, Johnson J, Berry K, Russo P, Kennedy S, Teebi AS, Scavina M, Williams LL, Mancias P, Butler IJ, Krajewski K, Shy M, Lupski JR. | 03/13/2008 |
| review of the role of MTMR2 and MTMR13 and their involvement in the biology of Schwann cell and CMT4B neuropathies | Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases.
Previtali SC, Quattrini A, Bolino A. | 01/21/2010 |
| analysis of the molecular basis for this unique substrate specificity of human myotubularin-related protein-2 (MTMR2) in complex with phosphoinositides | Molecular basis for substrate recognition by MTMR2, a myotubularin family phosphoinositide phosphatase.
Begley MJ, Taylor GS, Brock MA, Ghosh P, Woods VL, Dixon JE., Free PMC Article | 01/21/2010 |
| Loss of MTMR13 (SBF2) function in Charcot-Marie-Tooth disease type 4B patients may lead to alterations in MTMR2 function and subsequent alterations in 3-phosphoinositide signaling. | The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease.
Robinson FL, Dixon JE. | 01/21/2010 |
| A homozygous cytosine to thymine missense mutation at nucleotide position 847, resulting in an amino acid substitution of arginine to tryptophan at codon 283, was detected in exon 9 of the MTMR2 gene | A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths.
Nelis E, Erdem S, Tan E, Löfgren A, Ceuterick C, De Jonghe P, Van Broeckhoven C, Timmerman V, Topaloglu H. | 01/21/2010 |
| crystal structure of MTMR2, a protein tyrosine phosphatase that is a member of the myotubularin-related protein family. | Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome.
Begley MJ, Taylor GS, Kim SA, Veine DM, Dixon JE, Stuckey JA. | 01/21/2010 |
| MTMR2 interacts with MTMR5 via its coiled-coil domain and that mutations in the coiled-coil domain of either MTMR2 or MTMR5 abrogate this interaction. | Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase.
Kim SA, Vacratsis PO, Firestein R, Cleary ML, Dixon JE., Free PMC Article | 01/21/2010 |