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ZFIN ID:
ZDB-GENE-051113-128
CITATIONS
(30 total)
Gene Name:
myotubularin 1
Gene Symbol:
mtm1
Dowling, J.J., Low, S.E., Busta, A.S., and Feldman, E.L. (2010) Zebrafish MTMR14 is required for excitation–contraction coupling, developmental motor function and the regulation of autophagy. Human molecular genetics. 19(13):2668-2681
Dowling, J.J., Vreede, A.P., Low, S.E., Gibbs, E.M., Kuwada, J.Y., Bonnemann, C.G., and Feldman, E.L. (2009) Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy. PLoS Genetics. 5(2):e1000372
Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
Espinosa, K.G., Geissah, S., Groom, L., Volpatti, J., Scott, I.C., Dirksen, R.T., Zhao, M., Dowling, J.J. (2022) Characterization of a novel zebrafish model of SPEG-related centronuclear myopathy. Disease models & mechanisms. 15(5):
Gibbs, E.M., Feldman, E.L., and Dowling, J.J. (2010) The role of MTMR14 in autophagy and in muscle disease. Autophagy. 6(6):819-820
Gupta, V.A., Hnia, K., Smith, L.L., Gundry, S.R., McIntire, J.E., Shimazu, J., Bass, J.R., Talbot, E.A., Amoasii, L., Goldman, N.E., Laporte, J., and Beggs, A.H. (2013) Loss of Catalytically Inactive Lipid Phosphatase Myotubularin-related Protein 12 Impairs Myotubularin Stability and Promotes Centronuclear Myopathy in Zebrafish. PLoS Genetics. 9(6):e1003583
Karolczak, S., Deshwar, A.R., Aristegui, E., Kamath, B.M., Lawlor, M.W., Andreoletti, G., Volpatti, J.R., Ellis, J.L., Yin, C., Dowling, J.J. (2023) Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy. The Journal of Clinical Investigation. 133(18):
Robb, S.A., Sewry, C.A., Dowling, J.J., Feng, L., Cullup, T., Lillis, S., Abbs, S., Lees, M.M., Laporte, J., Manzur, A.Y., Knight, R.K., Mills, K.R., Pike, M.G., Kress, W., Beeson, D., Jungbluth, H., Pitt, M.C., and Muntoni, F. (2011) Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies. Neuromuscular disorders : NMD. 21(6):379-386
Sabha, N., Volpatti, J.R., Gonorazky, H., Reifler, A., Davidson, A.E., Li, X., Eltayeb, N.M., Dall'Armi, C., Di Paolo, G., Brooks, S.V., Buj-Bello, A., Feldman, E.L., Dowling, J.J. (2016) PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models. The Journal of Clinical Investigation. 126(9):3613-25
Smith, L.L., Beggs, A.H., and Gupta, V.A. (2013) Analysis of skeletal muscle defects in larval zebrafish by birefringence and touch-evoke escape response assays. Journal of visualized experiments : JoVE. (82):e50925
Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
Volpatti, J.R., Ghahramani-Seno, M.M., Mansat, M., Sabha, N., Sarikaya, E., Goodman, S.J., Chater-Diehl, E., Celik, A., Pannia, E., Froment, C., Combes-Soia, L., Maani, N., Yuki, K.E., Chicanne, G., Uusküla-Reimand, L., Monis, S., Alvi, S.A., Genetti, C.A., Payrastre, B., Beggs, A.H., Bonnemann, C.G., Muntoni, F., Wilson, M.D., Weksberg, R., Viaud, J., Dowling, J.J. (2022) X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition. Acta Neuropathologica. 144(3):537-563
Karolczak, S., Deshwar, A.R., Aristegui, E., Kamath, B.M., Lawlor, M.W., Andreoletti, G., Volpatti, J.R., Ellis, J.L., Yin, C., Dowling, J.J. (2023) Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy. The Journal of Clinical Investigation. 133(18):
Espinosa, K.G., Geissah, S., Groom, L., Volpatti, J., Scott, I.C., Dirksen, R.T., Zhao, M., Dowling, J.J. (2022) Characterization of a novel zebrafish model of SPEG-related centronuclear myopathy. Disease models & mechanisms. 15(5):
Volpatti, J.R., Ghahramani-Seno, M.M., Mansat, M., Sabha, N., Sarikaya, E., Goodman, S.J., Chater-Diehl, E., Celik, A., Pannia, E., Froment, C., Combes-Soia, L., Maani, N., Yuki, K.E., Chicanne, G., Uusküla-Reimand, L., Monis, S., Alvi, S.A., Genetti, C.A., Payrastre, B., Beggs, A.H., Bonnemann, C.G., Muntoni, F., Wilson, M.D., Weksberg, R., Viaud, J., Dowling, J.J. (2022) X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition. Acta Neuropathologica. 144(3):537-563
Sabha, N., Volpatti, J.R., Gonorazky, H., Reifler, A., Davidson, A.E., Li, X., Eltayeb, N.M., Dall'Armi, C., Di Paolo, G., Brooks, S.V., Buj-Bello, A., Feldman, E.L., Dowling, J.J. (2016) PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models. The Journal of Clinical Investigation. 126(9):3613-25
Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
Gupta, V.A., Hnia, K., Smith, L.L., Gundry, S.R., McIntire, J.E., Shimazu, J., Bass, J.R., Talbot, E.A., Amoasii, L., Goldman, N.E., Laporte, J., and Beggs, A.H. (2013) Loss of Catalytically Inactive Lipid Phosphatase Myotubularin-related Protein 12 Impairs Myotubularin Stability and Promotes Centronuclear Myopathy in Zebrafish. PLoS Genetics. 9(6):e1003583
Smith, L.L., Beggs, A.H., and Gupta, V.A. (2013) Analysis of skeletal muscle defects in larval zebrafish by birefringence and touch-evoke escape response assays. Journal of visualized experiments : JoVE. (82):e50925
Robb, S.A., Sewry, C.A., Dowling, J.J., Feng, L., Cullup, T., Lillis, S., Abbs, S., Lees, M.M., Laporte, J., Manzur, A.Y., Knight, R.K., Mills, K.R., Pike, M.G., Kress, W., Beeson, D., Jungbluth, H., Pitt, M.C., and Muntoni, F. (2011) Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies. Neuromuscular disorders : NMD. 21(6):379-386
Dowling, J.J., Low, S.E., Busta, A.S., and Feldman, E.L. (2010) Zebrafish MTMR14 is required for excitation–contraction coupling, developmental motor function and the regulation of autophagy. Human molecular genetics. 19(13):2668-2681
Gibbs, E.M., Feldman, E.L., and Dowling, J.J. (2010) The role of MTMR14 in autophagy and in muscle disease. Autophagy. 6(6):819-820
Dowling, J.J., Vreede, A.P., Low, S.E., Gibbs, E.M., Kuwada, J.Y., Bonnemann, C.G., and Feldman, E.L. (2009) Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy. PLoS Genetics. 5(2):e1000372
Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
Additional Citations (18):
Gaudet, P., Livstone, M., Thomas, P., The Reference Genome Project (2010) Annotation inferences using phylogenetic trees. Automated Data Submission.
Thisse, B., Thisse, C. (2004) Fast Release Clones: A High Throughput Expression Analysis. ZFIN Direct Data Submission.
UniProt-GOA (2011) Gene Ontology annotation based on the automatic assignment of UniProtKB Subcellular Location terms in UniProtKB/TrEMBL entries. Manually curated data.
ZFIN Staff (2022) Electronic Gene Ontology annotations created by ARBA machine learning models. Automated Data Submission.
ZFIN Staff (2013) Semi-automated association of ENSDARG identifiers with ZFIN genes for the ZMP project. Semi-automated Curation.
ZFIN Staff (2006) Curation of Ensembl Database Links. Automated Data Submission.
ZFIN Staff (2002) Scientific Curation. Manually curated data.
ZFIN Staff (2003) Curation of orthology data. Manually curated data.
ZFIN Staff (2002) Curation of NCBI Gene Data Via Shared RNA Sequence IDs. Automated Data Submission.
ZFIN Staff (2002) Gene Ontology Annotation Through Association of InterPro Records with GO Terms. Automated Data Submission.
ZFIN Staff (2002) Gene Ontology Annotation Through Association of UniProt Keywords with GO Terms. Automated Data Submission.
ZFIN Staff (2003) Gene Ontology Annotation Through Association of Enzyme Commission numbers with GO Terms. Automated Data Submission.
ZFIN Staff (2017) Curation of Alliance of Genome Resources Database Links. Automated Data Submission.
ZFIN Staff (2023) Automated Curation of UniProt Database Links. Automated Data Submission.
ZFIN Staff (2017) Curation of PANTHER Gene IDs. Automated Data Submission.
ZFIN Staff (2020) Addition of links from ZFIN to Expression Atlas. Semi-automated Curation.
ZFIN Staff (2004) ZGC Data Curation and Association in ZFIN by ZFIN Staff. Semi-automated Curation.
ZFIN Staff (2003) Curation of VEGA Database Links. Automated Data Submission.
ZFIN Staff (2023) Automated Curation of UniProt Database Links. Automated Data Submission.
ZFIN Staff (2022) Electronic Gene Ontology annotations created by ARBA machine learning models. Automated Data Submission.
ZFIN Staff (2020) Addition of links from ZFIN to Expression Atlas. Semi-automated Curation.
ZFIN Staff (2017) Curation of PANTHER Gene IDs. Automated Data Submission.
ZFIN Staff (2017) Curation of Alliance of Genome Resources Database Links. Automated Data Submission.
ZFIN Staff (2013) Semi-automated association of ENSDARG identifiers with ZFIN genes for the ZMP project. Semi-automated Curation.
UniProt-GOA (2011) Gene Ontology annotation based on the automatic assignment of UniProtKB Subcellular Location terms in UniProtKB/TrEMBL entries. Manually curated data.
Gaudet, P., Livstone, M., Thomas, P., The Reference Genome Project (2010) Annotation inferences using phylogenetic trees. Automated Data Submission.
ZFIN Staff (2006) Curation of Ensembl Database Links. Automated Data Submission.
Thisse, B., Thisse, C. (2004) Fast Release Clones: A High Throughput Expression Analysis. ZFIN Direct Data Submission.
ZFIN Staff (2004) ZGC Data Curation and Association in ZFIN by ZFIN Staff. Semi-automated Curation.
ZFIN Staff (2003) Curation of VEGA Database Links. Automated Data Submission.
ZFIN Staff (2003) Curation of orthology data. Manually curated data.
ZFIN Staff (2003) Gene Ontology Annotation Through Association of Enzyme Commission numbers with GO Terms. Automated Data Submission.
ZFIN Staff (2002) Gene Ontology Annotation Through Association of UniProt Keywords with GO Terms. Automated Data Submission.
ZFIN Staff (2002) Curation of NCBI Gene Data Via Shared RNA Sequence IDs. Automated Data Submission.
ZFIN Staff (2002) Scientific Curation. Manually curated data.
ZFIN Staff (2002) Gene Ontology Annotation Through Association of InterPro Records with GO Terms. Automated Data Submission.
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