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Items: 29

1.

Allele-Specific CRISPR/Cas9 Correction of a Heterozygous DNM2 Mutation Rescues Centronuclear Myopathy Cell Phenotypes.

Rabai A, Reisser L, Reina-San-Martin B, Mamchaoui K, Cowling BS, Nicot AS, Laporte J.

Mol Ther Nucleic Acids. 2019 Jun 7;16:246-256. doi: 10.1016/j.omtn.2019.02.019. Epub 2019 Feb 27.

2.

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

Lionello VM, Nicot AS, Sartori M, Kretz C, Kessler P, Buono S, Djerroud S, Messaddeq N, Koebel P, Prokic I, Hérault Y, Romero NB, Laporte J, Cowling BS.

Sci Transl Med. 2019 Mar 20;11(484). pii: eaav1866. doi: 10.1126/scitranslmed.aav1866.

PMID:
30894500
3.

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 19;9(1):4848. doi: 10.1038/s41467-018-07058-4.

4.

Reducing dynamin 2 (DNM2) rescues DNM2-related dominant centronuclear myopathy.

Buono S, Ross JA, Tasfaout H, Levy Y, Kretz C, Tayefeh L, Matson J, Guo S, Kessler P, Monia BP, Bitoun M, Ochala J, Laporte J, Cowling BS.

Proc Natl Acad Sci U S A. 2018 Oct 23;115(43):11066-11071. doi: 10.1073/pnas.1808170115. Epub 2018 Oct 5.

5.

Centronuclear myopathies under attack: A plethora of therapeutic targets.

Tasfaout H, Cowling BS, Laporte J.

J Neuromuscul Dis. 2018;5(4):387-406. doi: 10.3233/JND-180309. Review.

6.

Single Intramuscular Injection of AAV-shRNA Reduces DNM2 and Prevents Myotubular Myopathy in Mice.

Tasfaout H, Lionello VM, Kretz C, Koebel P, Messaddeq N, Bitz D, Laporte J, Cowling BS.

Mol Ther. 2018 Apr 4;26(4):1082-1092. doi: 10.1016/j.ymthe.2018.02.008. Epub 2018 Feb 14.

7.

Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation.

Cowling BS, Prokic I, Tasfaout H, Rabai A, Humbert F, Rinaldi B, Nicot AS, Kretz C, Friant S, Roux A, Laporte J.

J Clin Invest. 2017 Dec 1;127(12):4477-4487. doi: 10.1172/JCI90542. Epub 2017 Nov 13.

8.

Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy.

Raess MA, Cowling BS, Bertazzi DL, Kretz C, Rinaldi B, Xuereb JM, Kessler P, Romero NB, Payrastre B, Friant S, Laporte J.

Hum Mol Genet. 2017 Oct 1;26(19):3736-3748. doi: 10.1093/hmg/ddx258.

PMID:
28934386
9.

Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice.

Tasfaout H, Buono S, Guo S, Kretz C, Messaddeq N, Booten S, Greenlee S, Monia BP, Cowling BS, Laporte J.

Nat Commun. 2017 Jun 7;8:15661. doi: 10.1038/ncomms15661.

10.

WANTED - Dead or alive: Myotubularins, a large disease-associated protein family.

Raess MA, Friant S, Cowling BS, Laporte J.

Adv Biol Regul. 2017 Jan;63:49-58. doi: 10.1016/j.jbior.2016.09.001. Epub 2016 Sep 15. Review.

PMID:
27666502
11.

Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes.

Arbogast T, Ouagazzal AM, Chevalier C, Kopanitsa M, Afinowi N, Migliavacca E, Cowling BS, Birling MC, Champy MF, Reymond A, Herault Y.

PLoS Genet. 2016 Feb 12;12(2):e1005709. doi: 10.1371/journal.pgen.1005709. eCollection 2016 Feb.

12.

The caveolin-cavin system plays a conserved and critical role in mechanoprotection of skeletal muscle.

Lo HP, Nixon SJ, Hall TE, Cowling BS, Ferguson C, Morgan GP, Schieber NL, Fernandez-Rojo MA, Bastiani M, Floetenmeyer M, Martel N, Laporte J, Pilch PF, Parton RG.

J Cell Biol. 2015 Aug 31;210(5):833-49. doi: 10.1083/jcb.201501046.

13.

Amphiphysin 2 (BIN1) in physiology and diseases.

Prokic I, Cowling BS, Laporte J.

J Mol Med (Berl). 2014 May;92(5):453-63. doi: 10.1007/s00109-014-1138-1. Epub 2014 Mar 5. Review.

PMID:
24590001
14.

Reducing dynamin 2 expression rescues X-linked centronuclear myopathy.

Cowling BS, Chevremont T, Prokic I, Kretz C, Ferry A, Coirault C, Koutsopoulos O, Laugel V, Romero NB, Laporte J.

J Clin Invest. 2014 Mar;124(3):1350-63. doi: 10.1172/JCI71206. Epub 2014 Feb 24.

15.

Identification of FHL1 as a therapeutic target for Duchenne muscular dystrophy.

D'Arcy CE, Feeney SJ, McLean CA, Gehrig SM, Lynch GS, Smith JE, Cowling BS, Mitchell CA, McGrath MJ.

Hum Mol Genet. 2014 Feb 1;23(3):618-36. doi: 10.1093/hmg/ddt449. Epub 2013 Sep 18.

PMID:
24087791
16.

Regulation of the transcriptional coactivator FHL2 licenses activation of the androgen receptor in castrate-resistant prostate cancer.

McGrath MJ, Binge LC, Sriratana A, Wang H, Robinson PA, Pook D, Fedele CG, Brown S, Dyson JM, Cottle DL, Cowling BS, Niranjan B, Risbridger GP, Mitchell CA.

Cancer Res. 2013 Aug 15;73(16):5066-79. doi: 10.1158/0008-5472.CAN-12-4520. Epub 2013 Jun 25.

17.

Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy.

Böhm J, Vasli N, Maurer M, Cowling BS, Shelton GD, Kress W, Toussaint A, Prokic I, Schara U, Anderson TJ, Weis J, Tiret L, Laporte J.

PLoS Genet. 2013 Jun;9(6):e1003430. doi: 10.1371/journal.pgen.1003430. Epub 2013 Jun 6. Erratum in: PLoS Genet. 2013 Jun;9(6). doi:10.1371/annotation/22ca13f1-1ce9-4bb5-9c9e-98670f7c4240. Cowling, Belinda [corrected to Cowling, Belinda S].

18.

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.

19.

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.

20.

Defective membrane remodeling in neuromuscular diseases: insights from animal models.

Cowling BS, Toussaint A, Muller J, Laporte J.

PLoS Genet. 2012;8(4):e1002595. doi: 10.1371/journal.pgen.1002595. Epub 2012 Apr 5. Review.

21.

Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness.

Cowling BS, Toussaint A, Amoasii L, Koebel P, Ferry A, Davignon L, Nishino I, Mandel JL, Laporte J.

Am J Pathol. 2011 May;178(5):2224-35. doi: 10.1016/j.ajpath.2011.01.054.

22.

Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features.

Cowling BS, Cottle DL, Wilding BR, D'Arcy CE, Mitchell CA, McGrath MJ.

Neuromuscul Disord. 2011 Apr;21(4):237-51. doi: 10.1016/j.nmd.2011.01.001. Review.

PMID:
21310615
23.

Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies.

Toussaint A, Cowling BS, Hnia K, Mohr M, Oldfors A, Schwab Y, Yis U, Maisonobe T, Stojkovic T, Wallgren-Pettersson C, Laugel V, Echaniz-Laguna A, Mandel JL, Nishino I, Laporte J.

Acta Neuropathol. 2011 Feb;121(2):253-66. doi: 10.1007/s00401-010-0754-2. Epub 2010 Oct 7.

PMID:
20927630
24.

Implanted myoblast survival is dependent on the degree of vascularization in a novel delayed implantation/prevascularization tissue engineering model.

Tilkorn DJ, Bedogni A, Keramidaris E, Han X, Palmer JA, Dingle AM, Cowling BS, Williams MD, McKay SM, Pepe L, Deftereos A, Morrison WA, Penington AJ, Mitchell GM.

Tissue Eng Part A. 2010 Jan;16(1):165-78. doi: 10.1089/ten.TEA.2009.0075.

PMID:
19650726
25.

SLIMMER (FHL1B/KyoT3) interacts with the proapoptotic protein Siva-1 (CD27BP) and delays skeletal myoblast apoptosis.

Cottle DL, McGrath MJ, Wilding BR, Cowling BS, Kane JM, D'Arcy CE, Holdsworth M, Hatzinisiriou I, Prescott M, Brown S, Mitchell CA.

J Biol Chem. 2009 Sep 25;284(39):26964-77. doi: 10.1074/jbc.M109.036293. Epub 2009 Jul 29.

26.

Identification of FHL1 as a regulator of skeletal muscle mass: implications for human myopathy.

Cowling BS, McGrath MJ, Nguyen MA, Cottle DL, Kee AJ, Brown S, Schessl J, Zou Y, Joya J, Bönnemann CG, Hardeman EC, Mitchell CA.

J Cell Biol. 2008 Dec 15;183(6):1033-48. doi: 10.1083/jcb.200804077.

27.

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy.

Schessl J, Zou Y, McGrath MJ, Cowling BS, Maiti B, Chin SS, Sewry C, Battini R, Hu Y, Cottle DL, Rosenblatt M, Spruce L, Ganguly A, Kirschner J, Judkins AR, Golden JA, Goebel HH, Muntoni F, Flanigan KM, Mitchell CA, Bönnemann CG.

J Clin Invest. 2008 Mar;118(3):904-12. doi: 10.1172/JCI34450.

28.

FHL3 binds MyoD and negatively regulates myotube formation.

Cottle DL, McGrath MJ, Cowling BS, Coghill ID, Brown S, Mitchell CA.

J Cell Sci. 2007 Apr 15;120(Pt 8):1423-35. Epub 2007 Mar 27.

29.

Four and a half LIM protein 1 binds myosin-binding protein C and regulates myosin filament formation and sarcomere assembly.

McGrath MJ, Cottle DL, Nguyen MA, Dyson JM, Coghill ID, Robinson PA, Holdsworth M, Cowling BS, Hardeman EC, Mitchell CA, Brown S.

J Biol Chem. 2006 Mar 17;281(11):7666-83. Epub 2006 Jan 9.

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