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Results: 1 to 20 of 84

Similar articles for PubMed (Select 24004519)


Murine Fig4 is dispensable for muscle development but required for muscle function.

Reifler A, Lenk GM, Li X, Groom L, Brooks SV, Wilson D, Bowerson M, Dirksen RT, Meisler MH, Dowling JJ.

Skelet Muscle. 2013 Sep 1;3(1):21. doi: 10.1186/2044-5040-3-21.


Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies.

Vaccari I, Dina G, Tronchère H, Kaufman E, Chicanne G, Cerri F, Wrabetz L, Payrastre B, Quattrini A, Weisman LS, Meisler MH, Bolino A.

PLoS Genet. 2011 Oct;7(10):e1002319. doi: 10.1371/journal.pgen.1002319. Epub 2011 Oct 20.


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.

Hum Mol Genet. 2012 Feb 15;21(4):811-25. doi: 10.1093/hmg/ddr512. Epub 2011 Nov 7.


Zebrafish MTMR14 is required for excitation-contraction coupling, developmental motor function and the regulation of autophagy.

Dowling JJ, Low SE, Busta AS, Feldman EL.

Hum Mol Genet. 2010 Jul 1;19(13):2668-81. doi: 10.1093/hmg/ddq153. Epub 2010 Apr 16.


Congenital CNS hypomyelination in the Fig4 null mouse is rescued by neuronal expression of the PI(3,5)P(2) phosphatase Fig4.

Winters JJ, Ferguson CJ, Lenk GM, Giger-Mateeva VI, Shrager P, Meisler MH, Giger RJ.

J Neurosci. 2011 Nov 30;31(48):17736-51. doi: 10.1523/JNEUROSCI.1482-11.2011.


Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.

Campeau PM, Lenk GM, Lu JT, Bae Y, Burrage L, Turnpenny P, Román Corona-Rivera J, Morandi L, Mora M, Reutter H, Vulto-van Silfhout AT, Faivre L, Haan E, Gibbs RA, Meisler MH, Lee BH.

Am J Hum Genet. 2013 May 2;92(5):781-91. doi: 10.1016/j.ajhg.2013.03.020. Epub 2013 Apr 25.


Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice.

Amoasii L, Bertazzi DL, Tronchère H, Hnia K, Chicanne G, Rinaldi B, Cowling BS, Ferry A, Klaholz B, Payrastre B, Laporte J, Friant S.

PLoS Genet. 2012;8(10):e1002965. doi: 10.1371/journal.pgen.1002965. Epub 2012 Oct 11.


Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.

Chow CY, Zhang Y, Dowling JJ, Jin N, Adamska M, Shiga K, Szigeti K, Shy ME, Li J, Zhang X, Lupski JR, Weisman LS, Meisler MH.

Nature. 2007 Jul 5;448(7149):68-72. Epub 2007 Jun 17.


Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease.

Kim SA, Taylor GS, Torgersen KM, Dixon JE.

J Biol Chem. 2002 Feb 8;277(6):4526-31. Epub 2001 Dec 3.


Site-specific Mtm1 mutagenesis by an AAV-Cre vector reveals that myotubularin is essential in adult muscle.

Joubert R, Vignaud A, Le M, Moal C, Messaddeq N, Buj-Bello A.

Hum Mol Genet. 2013 May 1;22(9):1856-66. doi: 10.1093/hmg/ddt038. Epub 2013 Feb 5.


Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration.

Ferguson CJ, Lenk GM, Jones JM, Grant AE, Winters JJ, Dowling JJ, Giger RJ, Meisler MH.

Hum Mol Genet. 2012 Aug 15;21(16):3525-34. doi: 10.1093/hmg/dds179. Epub 2012 May 11.


Conditional knockout of pik3c3 causes a murine muscular dystrophy.

Reifler A, Li X, Archambeau AJ, McDade JR, Sabha N, Michele DE, Dowling JJ.

Am J Pathol. 2014 Jun;184(6):1819-30. doi: 10.1016/j.ajpath.2014.02.012. Epub 2014 Apr 13.


Syngeneic myoblast transplantation improves muscle function in a murine model of X-linked myotubular myopathy.

Lim HJ, Joo S, Oh SH, Jackson JD, Eckman DM, Bledsoe TM, Pierson CR, Childers MK, Atala A, Yoo JJ.

Cell Transplant. 2014 Jul 25. [Epub ahead of print]


Myotubularin and PtdIns3P remodel the sarcoplasmic reticulum in muscle in vivo.

Amoasii L, Hnia K, Chicanne G, Brech A, Cowling BS, Müller MM, Schwab Y, Koebel P, Ferry A, Payrastre B, Laporte J.

J Cell Sci. 2013 Apr 15;126(Pt 8):1806-19. doi: 10.1242/jcs.118505. Epub 2013 Feb 26.


Trauma does not accelerate neuronal degeneration in Fig4 insufficient mice.

Yan Q, Guo J, Zhang X, Bai Y, Wang L, Li J.

J Neurol Sci. 2012 Jan 15;312(1-2):102-7. doi: 10.1016/j.jns.2011.08.009. Epub 2011 Aug 27.


The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice.

Buj-Bello A, Laugel V, Messaddeq N, Zahreddine H, Laporte J, Pellissier JF, Mandel JL.

Proc Natl Acad Sci U S A. 2002 Nov 12;99(23):15060-5. Epub 2002 Oct 21.


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.

J Clin Invest. 2011 Jan;121(1):70-85. doi: 10.1172/JCI44021. Epub 2010 Dec 6.


Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J.

Lenk GM, Ferguson CJ, Chow CY, Jin N, Jones JM, Grant AE, Zolov SN, Winters JJ, Giger RJ, Dowling JJ, Weisman LS, Meisler MH.

PLoS Genet. 2011 Jun;7(6):e1002104. doi: 10.1371/journal.pgen.1002104. Epub 2011 Jun 2.


Phosphatidylinositol-5-phosphate activation and conserved substrate specificity of the myotubularin phosphatidylinositol 3-phosphatases.

Schaletzky J, Dove SK, Short B, Lorenzo O, Clague MJ, Barr FA.

Curr Biol. 2003 Mar 18;13(6):504-9.

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