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Items: 47

1.

Intravenous Administration of a MTMR2-Encoding AAV Vector Ameliorates the Phenotype of Myotubular Myopathy in Mice.

Danièle N, Moal C, Julien L, Marinello M, Jamet T, Martin S, Vignaud A, Lawlor MW, Buj-Bello A.

J Neuropathol Exp Neurol. 2018 Apr 1;77(4):282-295. doi: 10.1093/jnen/nly002.

PMID:
29408998
2.

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

Mariot V, Joubert R, Hourdé C, Féasson L, Hanna M, Muntoni F, Maisonobe T, Servais L, Bogni C, Le Panse R, Benvensite O, Stojkovic T, Machado PM, Voit T, Buj-Bello A, Dumonceaux J.

Nat Commun. 2017 Nov 30;8(1):1859. doi: 10.1038/s41467-017-01486-4.

3.

Long-term effects of systemic gene therapy in a canine model of myotubular myopathy.

Elverman M, Goddard MA, Mack D, Snyder JM, Lawlor MW, Meng H, Beggs AH, Buj-Bello A, Poulard K, Marsh AP, Grange RW, Kelly VE, Childers MK.

Muscle Nerve. 2017 Nov;56(5):943-953. doi: 10.1002/mus.25658. Epub 2017 May 22.

PMID:
28370029
4.

Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs.

Mack DL, Poulard K, Goddard MA, Latournerie V, Snyder JM, Grange RW, Elverman MR, Denard J, Veron P, Buscara L, Le Bec C, Hogrel JY, Brezovec AG, Meng H, Yang L, Liu F, O'Callaghan M, Gopal N, Kelly VE, Smith BK, Strande JL, Mavilio F, Beggs AH, Mingozzi F, Lawlor MW, Buj-Bello A, Childers MK.

Mol Ther. 2017 Apr 5;25(4):839-854. doi: 10.1016/j.ymthe.2017.02.004. Epub 2017 Feb 22.

5.

Phosphatidylinositol 3-kinase inhibition restores Ca2+ release defects and prolongs survival in myotubularin-deficient mice.

Kutchukian C, Lo Scrudato M, Tourneur Y, Poulard K, Vignaud A, Berthier C, Allard B, Lawlor MW, Buj-Bello A, Jacquemond V.

Proc Natl Acad Sci U S A. 2016 Dec 13;113(50):14432-14437. Epub 2016 Nov 28.

6.

Efficacy and biodistribution analysis of intracerebroventricular administration of an optimized scAAV9-SMN1 vector in a mouse model of spinal muscular atrophy.

Armbruster N, Lattanzi A, Jeavons M, Van Wittenberghe L, Gjata B, Marais T, Martin S, Vignaud A, Voit T, Mavilio F, Barkats M, Buj-Bello A.

Mol Ther Methods Clin Dev. 2016 Sep 14;3:16060. doi: 10.1038/mtm.2016.60. eCollection 2016.

7.

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

Sabha N, Volpatti JR, Gonorazky H, Reifler A, Davidson AE, Li X, Eltayeb NM, Dall'Armi C, Di Paolo G, Brooks SV, Buj-Bello A, Feldman EL, Dowling JJ.

J Clin Invest. 2016 Sep 1;126(9):3613-25. doi: 10.1172/JCI86841. Epub 2016 Aug 22.

8.

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.

Biochem Biophys Res Commun. 2016 Jul 29;476(3):167-73. doi: 10.1016/j.bbrc.2016.04.127. Epub 2016 May 4.

PMID:
27155155
9.

Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons.

Lawlor MW, Beggs AH, Buj-Bello A, Childers MK, Dowling JJ, James ES, Meng H, Moore SA, Prasad S, Schoser B, Sewry CA.

J Neuropathol Exp Neurol. 2016 Feb;75(2):102-10. Review. Erratum in: J Neuropathol Exp Neurol. 2016 May;75(5):479.

10.

Gene replacement rescues severe muscle pathology and prolongs survival in myotubularin-deficient mice and dogs.

Childers MK, Beggs AH, Buj-Bello A.

Ann Transl Med. 2015 Oct;3(17):257. doi: 10.3978/j.issn.2305-5839.2015.10.01. No abstract available.

11.

Gait characteristics in a canine model of X-linked myotubular myopathy.

Goddard MA, Burlingame E, Beggs AH, Buj-Bello A, Childers MK, Marsh AP, Kelly VE.

J Neurol Sci. 2014 Nov 15;346(1-2):221-6. doi: 10.1016/j.jns.2014.08.032. Epub 2014 Aug 29.

12.

Ultrasound assessment of the diaphragm: Preliminary study of a canine model of X-linked myotubular myopathy.

Sarwal A, Cartwright MS, Walker FO, Mitchell E, Buj-Bello A, Beggs AH, Childers MK.

Muscle Nerve. 2014 Oct;50(4):607-9. doi: 10.1002/mus.24294. Epub 2014 Aug 30.

13.

Differential muscle hypertrophy is associated with satellite cell numbers and Akt pathway activation following activin type IIB receptor inhibition in Mtm1 p.R69C mice.

Lawlor MW, Viola MG, Meng H, Edelstein RV, Liu F, Yan K, Luna EJ, Lerch-Gaggl A, Hoffmann RG, Pierson CR, Buj-Bello A, Lachey JL, Pearsall S, Yang L, Hillard CJ, Beggs AH.

Am J Pathol. 2014 Jun;184(6):1831-42. doi: 10.1016/j.ajpath.2014.03.003. Epub 2014 Apr 13.

14.

Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy.

Childers MK, Joubert R, Poulard K, Moal C, Grange RW, Doering JA, Lawlor MW, Rider BE, Jamet T, Danièle N, Martin S, Rivière C, Soker T, Hammer C, Van Wittenberghe L, Lockard M, Guan X, Goddard M, Mitchell E, Barber J, Williams JK, Mack DL, Furth ME, Vignaud A, Masurier C, Mavilio F, Moullier P, Beggs AH, Buj-Bello A.

Sci Transl Med. 2014 Jan 22;6(220):220ra10. doi: 10.1126/scitranslmed.3007523.

15.

Phosphoinositide substrates of myotubularin affect voltage-activated Ca²⁺ release in skeletal muscle.

Rodríguez EG, Lefebvre R, Bodnár D, Legrand C, Szentesi P, Vincze J, Poulard K, Bertrand-Michel J, Csernoch L, Buj-Bello A, Jacquemond V.

Pflugers Arch. 2014 May;466(5):973-85.

PMID:
24022704
16.

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.

PMID:
23390130
17.

Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy.

Lawlor MW, Armstrong D, Viola MG, Widrick JJ, Meng H, Grange RW, Childers MK, Hsu CP, O'Callaghan M, Pierson CR, Buj-Bello A, Beggs AH.

Hum Mol Genet. 2013 Apr 15;22(8):1525-38. doi: 10.1093/hmg/ddt003. Epub 2013 Jan 9.

18.

Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment.

Lawlor MW, Alexander MS, Viola MG, Meng H, Joubert R, Gupta V, Motohashi N, Manfready RA, Hsu CP, Huang P, Buj-Bello A, Kunkel LM, Beggs AH, Gussoni E.

Am J Pathol. 2012 Sep;181(3):961-8. doi: 10.1016/j.ajpath.2012.05.016. Epub 2012 Jul 27.

19.

Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models.

Dowling JJ, Joubert R, Low SE, Durban AN, Messaddeq N, Li X, Dulin-Smith AN, Snyder AD, Marshall ML, Marshall JT, Beggs AH, Buj-Bello A, Pierson CR.

Dis Model Mech. 2012 Nov;5(6):852-9. doi: 10.1242/dmm.009746. Epub 2012 May 24.

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.

21.

Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice.

Lawlor MW, Read BP, Edelstein R, Yang N, Pierson CR, Stein MJ, Wermer-Colan A, Buj-Bello A, Lachey JL, Seehra JS, Beggs AH.

Am J Pathol. 2011 Feb;178(2):784-93. doi: 10.1016/j.ajpath.2010.10.035. Erratum in: Am J Pathol. 2011 Mar;178(3):1406.

22.

MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers.

Beggs AH, Böhm J, Snead E, Kozlowski M, Maurer M, Minor K, Childers MK, Taylor SM, Hitte C, Mickelson JR, Guo LT, Mizisin AP, Buj-Bello A, Tiret L, Laporte J, Shelton GD.

Proc Natl Acad Sci U S A. 2010 Aug 17;107(33):14697-702. doi: 10.1073/pnas.1003677107. Epub 2010 Aug 3.

23.

Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy.

McClelland V, Cullup T, Bodi I, Ruddy D, Buj-Bello A, Biancalana V, Boehm J, Bitoun M, Miller O, Jan W, Menson E, Amaya L, Trounce J, Laporte J, Mohammed S, Sewry C, Raiman J, Jungbluth H.

Am J Med Genet A. 2010 Mar;152A(3):741-7. doi: 10.1002/ajmg.a.33296.

PMID:
20186778
24.

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase.

Al-Qusairi L, Weiss N, Toussaint A, Berbey C, Messaddeq N, Kretz C, Sanoudou D, Beggs AH, Allard B, Mandel JL, Laporte J, Jacquemond V, Buj-Bello A.

Proc Natl Acad Sci U S A. 2009 Nov 3;106(44):18763-8. doi: 10.1073/pnas.0900705106. Epub 2009 Oct 21.

25.

AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis.

Buj-Bello A, Fougerousse F, Schwab Y, Messaddeq N, Spehner D, Pierson CR, Durand M, Kretz C, Danos O, Douar AM, Beggs AH, Schultz P, Montus M, Denèfle P, Mandel JL.

Hum Mol Genet. 2008 Jul 15;17(14):2132-43. doi: 10.1093/hmg/ddn112. Epub 2008 Apr 22.

26.

Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene.

Jungbluth H, Zhou H, Sewry CA, Robb S, Treves S, Bitoun M, Guicheney P, Buj-Bello A, Bönnemann C, Muntoni F.

Neuromuscul Disord. 2007 Apr;17(4):338-45. Epub 2007 Mar 21.

PMID:
17376685
27.

CXorf6 is a causative gene for hypospadias.

Fukami M, Wada Y, Miyabayashi K, Nishino I, Hasegawa T, Nordenskjöld A, Camerino G, Kretz C, Buj-Bello A, Laporte J, Yamada G, Morohashi K, Ogata T.

Nat Genet. 2006 Dec;38(12):1369-71. Epub 2006 Nov 5. Erratum in: Nat Genet. 2007 Jan;39(1):131. Nordenskjöld, Agneta [added].

PMID:
17086185
28.

Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy.

Zanoteli E, Laporte J, Rocha JC, Kretz C, Oliveira AS, Mandel JL, Perez AB, Gabbai AA, Buj-Bello A.

Am J Med Genet A. 2005 Apr 30;134(3):338-40. No abstract available.

PMID:
15690409
29.

118th ENMC International Workshop on Advances in Myotubular Myopathy. 26-28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy).

Bertini E, Biancalana V, Bolino A, Buj Bello A, Clague M, Guicheney P, Jungbluth H, Kress W, Musaro' A, Nandurkar H, Pirola L, Romero N, Senderek J, Suter U, Sewry C, Tronchere H, Wallgren-Pettersson C, Wishart MJ, Laporte J.

Neuromuscul Disord. 2004 Jun;14(6):387-96. No abstract available.

PMID:
15145343
30.

Implication of phosphoinositide phosphatases in genetic diseases: the case of myotubularin.

Tronchère H, Buj-Bello A, Mandel JL, Payrastre B.

Cell Mol Life Sci. 2003 Oct;60(10):2084-99. Review.

PMID:
14618257
31.

Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.

Biancalana V, Caron O, Gallati S, Baas F, Kress W, Novelli G, D'Apice MR, Lagier-Tourenne C, Buj-Bello A, Romero NB, Mandel JL.

Hum Genet. 2003 Feb;112(2):135-42. Epub 2002 Nov 28.

PMID:
12522554
32.

Genotype-phenotype correlations in X-linked myotubular myopathy.

McEntagart M, Parsons G, Buj-Bello A, Biancalana V, Fenton I, Little M, Krawczak M, Thomas N, Herman G, Clarke A, Wallgren-Pettersson C.

Neuromuscul Disord. 2002 Dec;12(10):939-46.

PMID:
12467749
33.

Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation.

Jungbluth H, Sewry CA, Buj-Bello A, Kristiansen M, Ørstavik KH, Kelsey A, Manzur AY, Mercuri E, Wallgren-Pettersson C, Muntoni F.

Neuromuscul Disord. 2003 Jan;13(1):55-9.

PMID:
12467733
34.

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.

35.

Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells.

Buj-Bello A, Furling D, Tronchère H, Laporte J, Lerouge T, Butler-Browne GS, Mandel JL.

Hum Mol Genet. 2002 Sep 15;11(19):2297-307.

PMID:
12217958
36.

The myotubularin family: from genetic disease to phosphoinositide metabolism.

Laporte J, Blondeau F, Buj-Bello A, Mandel JL.

Trends Genet. 2001 Apr;17(4):221-8.

PMID:
11275328
37.

MTM1 mutations in X-linked myotubular myopathy.

Laporte J, Biancalana V, Tanner SM, Kress W, Schneider V, Wallgren-Pettersson C, Herger F, Buj-Bello A, Blondeau F, Liechti-Gallati S, Mandel JL.

Hum Mutat. 2000;15(5):393-409. Review.

PMID:
10790201
38.

Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy.

Buj-Bello A, Biancalana V, Moutou C, Laporte J, Mandel JL.

Hum Mutat. 1999;14(4):320-5.

PMID:
10502779
39.

Differences and developmental changes in the responsiveness of PNS neurons to GDNF and neurturin.

Forgie A, Doxakis E, Buj-Bello A, Wyatt S, Davies AM.

Mol Cell Neurosci. 1999 Jun;13(6):430-40.

PMID:
10383828
40.

Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human.

Laporte J, Blondeau F, Buj-Bello A, Tentler D, Kretz C, Dahl N, Mandel JL.

Hum Mol Genet. 1998 Oct;7(11):1703-12.

PMID:
9736772
41.

GFRalpha-4, a new GDNF family receptor.

Thompson J, Doxakis E, Piñón LG, Strachan P, Buj-Bello A, Wyatt S, Buchman VL, Davies AM.

Mol Cell Neurosci. 1998 Jun;11(3):117-26.

PMID:
9647690
42.

Neurturin responsiveness requires a GPI-linked receptor and the Ret receptor tyrosine kinase.

Buj-Bello A, Adu J, Piñón LG, Horton A, Thompson J, Rosenthal A, Chinchetru M, Buchman VL, Davies AM.

Nature. 1997 Jun 12;387(6634):721-4.

PMID:
9192899
43.

Characterization of a multicomponent receptor for GDNF.

Treanor JJ, Goodman L, de Sauvage F, Stone DM, Poulsen KT, Beck CD, Gray C, Armanini MP, Pollock RA, Hefti F, Phillips HS, Goddard A, Moore MW, Buj-Bello A, Davies AM, Asai N, Takahashi M, Vandlen R, Henderson CE, Rosenthal A.

Nature. 1996 Jul 4;382(6586):80-3.

PMID:
8657309
44.

Paracrine interactions of BDNF involving NGF-dependent embryonic sensory neurons.

Robinson M, Buj-Bello A, Davies AM.

Mol Cell Neurosci. 1996 Feb;7(2):143-51.

PMID:
8731482
45.

Leukemia inhibitory factor and ciliary neurotrophic factor in sensory neuron development.

Horton AR, Davies AM, Buj-Bello A, Bartlett P, Murphy M.

Perspect Dev Neurobiol. 1996;4(1):35-8. Review.

PMID:
9169917
46.

GDNF is an age-specific survival factor for sensory and autonomic neurons.

Buj-Bello A, Buchman VL, Horton A, Rosenthal A, Davies AM.

Neuron. 1995 Oct;15(4):821-8.

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