Works matching DE "MYOTUBULARIN"

Results: 38

Acute mechanical overload increases IGF-I and MMP-9 mRNA in 3D tissue-engineered skeletal muscle.

Published in:

Biotechnology Letters, 2014, v. 36, n. 5, p. 1113, doi. 10.1007/s10529-014-1464-y

By:

Player, D.;
Martin, N.;
Passey, S.;
Sharples, A.;
Mudera, V.;
Lewis, M.

Publication type:

Article

Using exome sequencing to decipher family history in a healthy individual: Comparison of pathogenic and population MTM1 variants.

Published in:

Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 5, p. 722, doi. 10.1002/mgg3.405

By:

Penon, Monica;
Zahed, Hengameh;
Berger, Victoria;
Su, Irene;
Shieh, Joseph T.

Publication type:

Article

Consensus Statement on Standard of Care for Congenital Myopathies.

Published in:

Journal of Child Neurology, 2012, v. 27, n. 3, p. 363, doi. 10.1177/0883073812436605

By:

Wang, Ching H.;
Dowling, James J.;
North, Kathryn;
Schroth, Mary K.;
Sejersen, Thomas;
Shapiro, Frederic;
Bellini, Jonathan;
Weiss, Hali;
Guillet, Marc;
Amburgey, Kimberly;
Apkon, Susan;
Bertini, Enrico;
Bonnemann, Carsten;
Clarke, Nigel;
Connolly, Anne M.;
Estournet-Mathiaud, Brigitte;
Fitzgerald, Dominic;
Florence, Julaine M.;
Gee, Richard;
Gurgel-Giannetti, Juliana

Publication type:

Article

Clinical Phenotype of X-Linked Myotubular Myopathy in Labrador Retriever Puppies.

Published in:

Journal of Veterinary Internal Medicine, 2015, v. 29, n. 1, p. 254, doi. 10.1111/jvim.12513

By:

Snead, E.C.R.;
Taylor, S.M.;
Kooij, M.;
Cosford, K.;
Beggs, A.H.;
Shelton, G.D.

Publication type:

Article

Rapid nanomolding of nanotopography on flexible substrates to control muscle cell growth with enhanced maturation.

Published in:

Microsystems & Nanoengineering, 2021, v. 7, n. 1, p. 1, doi. 10.1038/s41378-021-00316-4

By:

Wu, Cong;
Chin, Chriss S. M.;
Huang, Qingyun;
Chan, Ho-Yin;
Yu, Xinge;
Roy, Vellaisamy A. L.;
Li, Wen J.

Publication type:

Article

Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches.

Published in:

Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-01486-4

By:

Mariot, Virginie;
Joubert, Romain;
Hourdé, Christophe;
Féasson, Léonard;
Hanna, Michael;
Muntoni, Francesco;
Maisonobe, Thierry;
Servais, Laurent;
Bogni, Caroline;
Le Panse, Rozen;
Benvensite, Olivier;
Stojkovic, Tanya;
Machado, Pedro M.;
Voit, Thomas;
Buj-Bello, Ana;
Dumonceaux, Julie

Publication type:

Article

X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene.

Published in:

Skeletal Muscle, 2015, v. 5, n. 1, p. 1, doi. 10.1186/s13395-014-0025-3

By:

Shelton, G. Diane;
Rider, Branden E.;
Child, Georgina;
Tzannes, Sophia;
Guo, Ling T.;
Moghadaszadeh, Behzad;
Troiano, Emily C.;
Haase, Bianca;
Wade, Claire M.;
Beggs, Alan H.

Publication type:

Article

X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene.

Published in:

Skeletal Muscle, 2015, v. 5, n. 1, p. 1, doi. 10.1186/s13395-014-0025-3

By:

Shelton, G. Diane;
Rider, Branden E.;
Child, Georgina;
Tzannes, Sophia;
Guo, Ling T.;
Moghadaszadeh, Behzad;
Troiano, Emily C.;
Haase, Bianca;
Wade, Claire M.;
Beggs, Alan H.

Publication type:

Article

Crystal Structure of Human Myotubularin-Related Protein 1 Provides Insight into the Structural Basis of Substrate Specificity.

Published in:

PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0152611

By:

Bong, Seoung Min;
Son, Kka-bi;
Yang, Seung-Won;
Park, Jae-Won;
Cho, Jea-Won;
Kim, Kyung-Tae;
Kim, Hackyoung;
Kim, Seung Jun;
Kim, Young Jun;
Lee, Byung Il

Publication type:

Article

Phosphatidylinositol 5-phosphate: A nuclear stress lipid and a tuner of membranes and cytoskeleton dynamics.

Published in:

BioEssays, 2014, v. 36, n. 3, p. 260, doi. 10.1002/bies.201300132

By:

Viaud, Julien;
Boal, Frédéric;
Tronchère, Hélène;
Gaits‐Iacovoni, Frédérique;
Payrastre, Bernard

Publication type:

Article

Myotubularin family phosphatase ceMTM3 is required for muscle maintenance by preventing excessive autophagy in Caenorhabditis elegans.

Published in:

BMC Cell Biology, 2012, v. 13, n. 1, p. 28, doi. 10.1186/1471-2121-13-28

By:

Yu, Xiaokun;
Ma, Jungfeng;
Lin, Feng;
Zhao, Wanke;
Fu, Xueqi;
Zhao, Zhizhuang Joe

Publication type:

Article

Phosphoinositide substrates of myotubularin affect voltage-activated Ca release in skeletal muscle.

Published in:

Pflügers Archiv: European Journal of Physiology, 2014, v. 466, n. 5, p. 973, doi. 10.1007/s00424-013-1346-5

By:

González Rodríguez, Estela;
Lefebvre, Romain;
Bodnár, Dóra;
Legrand, Claude;
Szentesi, Peter;
Vincze, János;
Poulard, Karine;
Bertrand-Michel, Justine;
Csernoch, Laszlo;
Buj-Bello, Anna;
Jacquemond, Vincent

Publication type:

Article

PIKfyve, MTMR3 and their product PtdIns5P regulate cancer cell migration and invasion through activation of Rac1.

Published in:

Biochemical Journal, 2014, v. 461, n. 3, p. 383, doi. 10.1042/BJ20140132

By:

OPPELT, Angela;
HAUGSTEN, Ellen M.;
ZECH, Tobias;
DANIELSEN, Håvard E.;
SVEEN, Anita;
LOBERT, Viola H.;
SKOTHEIM, Rolf I.;
WESCHE, Jørgen

Publication type:

Article

Association of MTMR3 rs12537 at miR-181a binding site with rheumatoid arthritis and systemic lupus erythematosus risk in Egyptian patients.

Published in:

Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-48770-5

By:

Senousy, Mahmoud A.;
Helmy, Hebatullah S.;
Fathy, Nevine;
Shaker, Olfat G.;
Ayeldeen, Ghada M.

Publication type:

Article

Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice.

Published in:

Science Translational Medicine, 2019, v. 11, n. 484, p. N.PAG, doi. 10.1126/scitranslmed.aav1866

By:

Lionello, Valentina M.;
Nicot, Anne-Sophie;
Sartori, Maxime;
Kretz, Christine;
Kessler, Pascal;
Buono, Suzie;
Djerroud, Sarah;
Messaddeq, Nadia;
Koebel, Pascale;
Prokic, Ivana;
Hérault, Yann;
Romero, Norma B.;
Laporte, Jocelyn;
Cowling, Belinda S.

Publication type:

Article

Correction: Crystal Structure of Human Myotubularin-Related Protein 1 Provides Insight into the Structural Basis of Substrate Specificity.

Published in:

2018

By:

Bong, Seoung Min;
Son, Kka-bi;
Yang, Seung-Won;
Park, Jae-Won;
Cho, Jea-Won;
Kim, Kyung-Tae;
Kim, Hackyoung;
Kim, Seung Jun;
Kim, Young Jun;
Lee, Byung Il

Publication type:

Correction Notice

Phosphatidylinositol 5 Phosphate (PI5P): From Behind the Scenes to the Front (Nuclear) Stage.

Published in:

International Journal of Molecular Sciences, 2019, v. 20, n. 9, p. 2080, doi. 10.3390/ijms20092080

By:

Poli, Alessandro;
Zaurito, Antonio Enrico;
Abdul-Hamid, Shidqiyyah;
Fiume, Roberta;
Faenza, Irene;
Divecha, Nullin

Publication type:

Article

The Role of Autophagy in Lupus Nephritis.

Published in:

International Journal of Molecular Sciences, 2015, v. 16, n. 10, p. 25154, doi. 10.3390/ijms161025154

By:

Linlin Wang;
Helen Ka Wai Law

Publication type:

Article

Sural nerve biopsy and functional studies support the pathogenic role of a novel MPZ mutation.

Published in:

Neuropathology, 2015, v. 35, n. 3, p. 254, doi. 10.1111/neup.12179

By:

Prada, Valeria;
Capponi, Simona;
Ursino, Giulia;
Alberti, Antonia;
Callegari, Ilaria;
Passalacqua, Mario;
Marotta, Roberto;
Mandich, Paola;
Bellone, Emilia;
Schenone, Angelo;
Grandis, Marina

Publication type:

Article

MTMR4 Is Required for the Stability of the Salmonella-Containing Vacuole.

Published in:

Frontiers in Cellular & Infection Microbiology, 2016, v. 6, p. 1, doi. 10.3389/fcimb.2016.00091

By:

Teo, Wei X.;
Kerr, Markus C.;
Teasdale, Rohan D.

Publication type:

Article

Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotype.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 6, p. 701, doi. 10.1038/ejhg.2011.256

By:

Vasli, Nasim;
Laugel, Vincent;
Böhm, Johann;
Lannes, Béatrice;
Biancalana, Valérie;
Laporte, Jocelyn

Publication type:

Article

Centronuclear Myopathy in Labrador Retrievers: A Recent Founder Mutation in the PTPLA Gene Has Rapidly Disseminated Worldwide.

Published in:

PLoS ONE, 2012, v. 7, n. 10, p. 1, doi. 10.1371/journal.pone.0046408

By:

Maurer, Marie;
Mary, Jérôme;
Guillaud, Laurent;
Fender, Marilyn;
Pelé, Manuel;
Bilzer, Thomas;
Olby, Natasha;
Penderis, Jacques;
Shelton, G. Diane;
Panthier, Jean-Jacques;
Thibaud, Jean-Laurent;
Barthélémy, Inès;
Aubin-Houzelstein, Geneviève;
Blot, Stéphane;
Hitte, Christophe;
Tiret, Laurent

Publication type:

Article

Loss of Catalytically Inactive Lipid Phosphatase Myotubularin-related Protein 12 Impairs Myotubularin Stability and Promotes Centronuclear Myopathy in Zebrafish.

Published in:

PLoS Genetics, 2013, v. 9, n. 6, p. 1, doi. 10.1371/journal.pgen.1003583

By:

Gupta, Vandana A.;
Hnia, Karim;
Smith, Laura L.;
Gundry, Stacey R.;
McIntire, Jessica E.;
Shimazu, Junko;
Bass, Jessica R.;
Talbot, Ethan A.;
Amoasii, Leonela;
Goldman, Nathaniel E.;
Laporte, Jocelyn;
Beggs, Alan H.

Publication type:

Article

Phosphatase-Dead Myotubularin Ameliorates X-Linked Centronuclear Myopathy Phenotypes in Mice.

Published in:

PLoS Genetics, 2012, v. 8, n. 10, p. 1, doi. 10.1371/journal.pgen.1002965

By:

Amoasii, Leonela;
Bertazzi, Dimitri L.;
Tronchère, Hélène;
Hnia, Karim;
Chicanne, Gaëtan;
Rinaldi, Bruno;
Cowling, Belinda S.;
Ferry, Arnaud;
Klaholz, Bruno;
Payrastre, Bernard;
Laporte, Jocelyn;
Friant, Sylvie

Publication type:

Article

Crystallization and preliminary X-ray crystallographic analysis of human myotubularin-related protein 1.

Published in:

Acta Crystallographica: Section F, Structural Biology Communications, 2015, v. 71, n. 3, p. 261, doi. 10.1107/S2053230X15000606

By:

Bong, Seoung Min;
Yang, Seung Won;
Choi, Ji-Woong;
Kim, Seung Jun;
Lee, Byung Il

Publication type:

Article

Expression, purification, crystallization and preliminary crystallographic analysis of human myotubularin-related protein 3.

Published in:

Acta Crystallographica: Section F, Structural Biology Communications, 2014, v. 70, n. 9, p. 1240, doi. 10.1107/S2053230X14015714

By:

Son, Ji Young;
Lee, Jee Un;
Yoo, Ki-Young;
Shin, Woori;
Im, Dong-Won;
Kim, Seung Jun;
Ryu, Seong Eon;
Heo, Yong-Seok

Publication type:

Article

Crystallization and preliminary X-ray crystallographic analysis of the PH-GRAM domain of human MTMR4.

Published in:

Acta Crystallographica: Section F, Structural Biology Communications, 2014, v. 70, n. 9, p. 1280, doi. 10.1107/S2053230X14017658

By:

Lee, Jee Un;
Son, Ji Young;
Yoo, Ki-Young;
Shin, Woori;
Im, Dong-Won;
Kim, Seung Jun;
Ryu, Seong Eon;
Heo, Yong-Seok

Publication type:

Article

Augmenting workload drives T‐tubule assembly in developing cardiomyocytes.

Published in:

Journal of Physiology, 2024, v. 602, n. 18, p. 4461, doi. 10.1113/JP284538

By:

Manfra, Ornella;
Louey, Samantha;
Jonker, Sonnet S.;
Perdreau‐Dahl, Harmonie;
Frisk, Michael;
Giraud, George D.;
Thornburg, Kent L.;
Louch, William E.

Publication type:

Article

Divergent functions of the myotubularin (MTM) homologs AtMTM1 and AtMTM2 in Arabidopsis thaliana: evolution of the plant MTM family.

Published in:

Plant Journal, 2012, v. 70, n. 5, p. 866, doi. 10.1111/j.1365-313X.2012.04936.x

By:

Ding, Yong;
Ndamukong, Ivan;
Zhao, Yang;
Xia, Yuannan;
Riethoven, Jean-Jack;
Jones, David R.;
Divecha, Nullin;
Avramova, Zoya

Publication type:

Article

Deficiency of myotubularin-related protein 14 influences body weight, metabolism, and inflammation in an age-dependent manner.

Published in:

Cell & Bioscience, 2015, v. 5, p. 1, doi. 10.1186/s13578-015-0062-6

By:

Yin Lv;
Lu Xue;
Congli Cai;
Qing-Hua Liu;
Jinhua Shen

Publication type:

Article

miR-181a modulates proliferation, migration and autophagy in AGS gastric cancer cells and downregulates MTMR3.

Published in:

Molecular Medicine Reports, 2017, v. 15, n. 5, p. 2451, doi. 10.3892/mmr.2017.6289

By:

YONG LIN;
JING ZHAO;
HONG WANG;
JIE CAO;
YUQIANG NIE

Publication type:

Article

Myotubularins, PtdIns5P, and ROS in ABA-mediated stomatal movements in dehydrated Arabidopsis seedlings.

Published in:

Functional Plant Biology, 2018, v. 45, n. 1/2, p. 259, doi. 10.1071/FP17116

By:

Nagpal, Akanksha;
Hassan, Ammar;
Ndamukong, Ivan;
Avramova, Zoya;
Baluška, František

Publication type:

Article

Mutated Ptpn11 alters leukemic stem cell frequency and reduces the sensitivity of acute myeloid leukemia cells to Mcl1 inhibition.

Published in:

Leukemia (08876924), 2015, v. 29, n. 6, p. 1290, doi. 10.1038/leu.2015.18

By:

Chen, L;
Chen, W;
Mysliwski, M;
Serio, J;
Ropa, J;
Abulwerdi, F A;
Chan, R J;
Patel, J P;
Tallman, M S;
Paietta, E;
Melnick, A;
Levine, R L;
Abdel-Wahab, O;
Nikolovska-Coleska, Z;
Muntean, A G

Publication type:

Article

Small GTPases and phosphoinositides in the regulatory mechanisms of macropinosome formation and maturation.

Published in:

Frontiers in Physiology, 2014, v. 5, p. 1, doi. 10.3389/fphys.2014.00374

By:

Youhei Egami;
Tomohiko Taguchi;
Masashi Maekawa;
Hiroyuki Arai;
Nobukazu Araki

Publication type:

Article

Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways.

Published in:

FASEB Journal, 2013, v. 27, n. 8, p. 3384, doi. 10.1096/fj.12-220947

By:

Al-Qusairi, Lama;
Prokic, Ivana;
Amoasii, Leonela;
Kretz, Christine;
Messaddeq, Nadia;
Mandel, Jean-Louis;
Laporte, Jocelyn

Publication type:

Article

PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models.

Published in:

2016

By:

Sabha, Nesrin;
Volpatti, Jonathan R.;
Gonorazky, Hernan;
Reifler, Aaron;
Davidson, Ann E.;
Xingli Li;
Eltayeb, Nadine M.;
Dall'Armi, Claudia;
Di Paolo, Gilbert;
Brooks, Susan V.;
Buj-Bello, Ana;
Feldman, Eva L.;
Dowling, James J.;
Li, Xingli

Publication type:

journal article

Dynamin 2 the rescue for centronuclear myopathy.

Published in:

Journal of Clinical Investigation, 2014, v. 124, n. 3, p. 976, doi. 10.1172/JCI74434

By:

Demonbreun, Alexis R.;
McNally, Elizabeth M.

Publication type:

Article

Reducing dynamin 2 expression rescues X-linked centronuclear myopathy.

Published in:

Journal of Clinical Investigation, 2014, v. 124, n. 3, p. 1350, doi. 10.1172/JCI71206

By:

Cowling, Belinda S.;
Chevremont, Thierry;
Prokic, Ivana;
Kretz, Christine;
Ferry, Arnaud;
Coirault, Catherine;
Koutsopoulos, Olga;
Laugel, Vincent;
Romero, Norma B.;
Laporte, Jocelyn

Publication type:

Article