287 related articles for article (PubMed ID: 23307925)
1. 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; 22(8):1525-38. PubMed ID: 23307925
[TBL] [Abstract][Full Text] [Related]
2. 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; 21(4):811-25. PubMed ID: 22068590
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 24726641
[TBL] [Abstract][Full Text] [Related]
4. 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; 17(14):2132-43. PubMed ID: 18434328
[TBL] [Abstract][Full Text] [Related]
5. rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy.
Ross JA; Tasfaout H; Levy Y; Morgan J; Cowling BS; Laporte J; Zanoteli E; Romero NB; Lowe DA; Jungbluth H; Lawlor MW; Mack DL; Ochala J
Acta Neuropathol Commun; 2020 Oct; 8(1):167. PubMed ID: 33076971
[TBL] [Abstract][Full Text] [Related]
6. 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; 77(4):282-295. PubMed ID: 29408998
[TBL] [Abstract][Full Text] [Related]
7. 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; 22(9):1856-66. PubMed ID: 23390130
[TBL] [Abstract][Full Text] [Related]
8. 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; 6(220):220ra10. PubMed ID: 24452262
[TBL] [Abstract][Full Text] [Related]
9. Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.
Gupta VA; Hnia K; Smith LL; Gundry SR; McIntire JE; Shimazu J; Bass JR; Talbot EA; Amoasii L; Goldman NE; Laporte J; Beggs AH
PLoS Genet; 2013 Jun; 9(6):e1003583. PubMed ID: 23818870
[TBL] [Abstract][Full Text] [Related]
10. 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; 113(50):14432-14437. PubMed ID: 27911767
[TBL] [Abstract][Full Text] [Related]
11. Muscle function in a canine model of X-linked myotubular myopathy.
Grange RW; Doering J; Mitchell E; Holder MN; Guan X; Goddard M; Tegeler C; Beggs AH; Childers MK
Muscle Nerve; 2012 Oct; 46(4):588-91. PubMed ID: 22987702
[TBL] [Abstract][Full Text] [Related]
12. Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy.
Dowling JJ; Vreede AP; Low SE; Gibbs EM; Kuwada JY; Bonnemann CG; Feldman EL
PLoS Genet; 2009 Feb; 5(2):e1000372. PubMed ID: 19197364
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 28370029
[TBL] [Abstract][Full Text] [Related]
14. Tamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy.
Gayi E; Neff LA; Massana Muñoz X; Ismail HM; Sierra M; Mercier T; Décosterd LA; Laporte J; Cowling BS; Dorchies OM; Scapozza L
Nat Commun; 2018 Nov; 9(1):4848. PubMed ID: 30451843
[TBL] [Abstract][Full Text] [Related]
15. Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations.
Bachmann C; Jungbluth H; Muntoni F; Manzur AY; Zorzato F; Treves S
Hum Mol Genet; 2017 Jan; 26(2):320-332. PubMed ID: 28007904
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 21281811
[TBL] [Abstract][Full Text] [Related]
17. Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy.
Bryen SJ; Oates EC; Evesson FJ; Lu JK; Waddell LB; Joshi H; Ryan MM; Cummings BB; McLean CA; MacArthur DG; Kornberg AJ; Cooper ST
Eur J Hum Genet; 2021 Jan; 29(1):61-66. PubMed ID: 32862205
[TBL] [Abstract][Full Text] [Related]
18. 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; 25(4):839-854. PubMed ID: 28237839
[TBL] [Abstract][Full Text] [Related]
19. Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways.
Al-Qusairi L; Prokic I; Amoasii L; Kretz C; Messaddeq N; Mandel JL; Laporte J
FASEB J; 2013 Aug; 27(8):3384-94. PubMed ID: 23695157
[TBL] [Abstract][Full Text] [Related]
20. X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the
Chausova P; Murtazina A; Stepanova A; Borovicov A; Kovalskaia V; Ryadninskaya N; Chukhrova A; Ryzhkova O; Poliakov A
Int J Mol Sci; 2023 May; 24(9):. PubMed ID: 37176116
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
