Belinda S Cowling

Belinda S Cowling

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Belinda S Cowling

Belinda S Cowling

Publications by authors named "Belinda S Cowling"

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Different in vivo impact of Dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or Centronuclear Myopathy.

Hum Mol Genet 2019 Oct 19. Epub 2019 Oct 19.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.

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http://dx.doi.org/10.1093/hmg/ddz249DOI Listing
October 2019

Translational medicine in neuromuscular disorders: from academia to industry.

Dis Model Mech 2019 Oct 24;13(2). Epub 2019 Oct 24.

Dynacure, Pôle API, 67400 Illkirch, France.

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http://dx.doi.org/10.1242/dmm.041434DOI Listing
October 2019

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

Mol Ther Nucleic Acids 2019 Jun 27;16:246-256. Epub 2019 Feb 27.

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch 67404, France; INSERM U1258, Illkirch 67404, France; CNRS UMR7104, Illkirch 67404, France; Strasbourg University, Illkirch 67404, France. Electronic address:

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http://dx.doi.org/10.1016/j.omtn.2019.02.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6439232PMC
June 2019

Tamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy.

Nat Commun 2018 11 19;9(1):4848. Epub 2018 Nov 19.

Pharmaceutical Biochemistry Group, School of Pharmaceutical Sciences, University of Lausanne, University of Geneva, CMU 5-6, Rue Michel-Servet 1, Geneva, 1211, Switzerland.

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http://www.nature.com/articles/s41467-018-07058-4
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http://dx.doi.org/10.1038/s41467-018-07058-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6243013PMC
November 2018

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

Proc Natl Acad Sci U S A 2018 10 5;115(43):11066-11071. Epub 2018 Oct 5.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France;

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http://dx.doi.org/10.1073/pnas.1808170115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6205463PMC
October 2018

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

Mol Ther 2018 04 14;26(4):1082-1092. Epub 2018 Feb 14.

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch 67400, France; INSERM U964, Illkirch 67400, France; CNRS UMR7104, Illkirch 67400, France; Strasbourg University, Illkirch 67400, France. Electronic address:

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http://dx.doi.org/10.1016/j.ymthe.2018.02.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6080128PMC
April 2018

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

J Clin Invest 2017 12 13;127(12):4477-4487. Epub 2017 Nov 13.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.

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http://dx.doi.org/10.1172/JCI90542DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5707152PMC
December 2017

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

Nat Commun 2017 06 7;8:15661. Epub 2017 Jun 7.

Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch 67404, France.

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http://dx.doi.org/10.1038/ncomms15661DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5467247PMC
June 2017

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

Adv Biol Regul 2017 Jan 15;63:49-58. Epub 2016 Sep 15.

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), 1 Rue Laurent Fries, BP10142, 67404 Illkirch, France; INSERM U964, 67404 Illkirch, France; CNRS, UMR7104, 67404 Illkirch, France; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, 67404 Illkirch, France. Electronic address:

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http://dx.doi.org/10.1016/j.jbior.2016.09.001DOI Listing
January 2017

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

J Cell Biol 2015 Aug;210(5):833-49

Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland 4072, Australia Center for Microscopy and Microanalysis, The University of Queensland, Brisbane, Queensland 4072, Australia

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http://www.jcb.org/lookup/doi/10.1083/jcb.201501046
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http://dx.doi.org/10.1083/jcb.201501046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4555827PMC
August 2015

Amphiphysin 2 (BIN1) in physiology and diseases.

J Mol Med (Berl) 2014 May 5;92(5):453-63. Epub 2014 Mar 5.

IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Illkirch, France.

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http://dx.doi.org/10.1007/s00109-014-1138-1DOI Listing
May 2014

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

J Cell Sci 2013 Apr 26;126(Pt 8):1806-19. Epub 2013 Feb 26.

Department of Translational Medicine, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964, CNRS UMR7104, Université de Strasbourg, Collège de France, 67404 Illkirch, France.

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http://dx.doi.org/10.1242/jcs.118505DOI Listing
April 2013

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

PLoS Genet 2012 11;8(10):e1002965. Epub 2012 Oct 11.

Department of Translational Medecine, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964, CNRS UMR7104, Université de Strasbourg, Collège de France, Illkirch, France.

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http://dx.doi.org/10.1371/journal.pgen.1002965DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3469422PMC
March 2013

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

PLoS Genet 2012 5;8(4):e1002595. Epub 2012 Apr 5.

Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France.

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https://dx.plos.org/10.1371/journal.pgen.1002595
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http://dx.doi.org/10.1371/journal.pgen.1002595DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3320571PMC
September 2012

FHL3 binds MyoD and negatively regulates myotube formation.

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

Department of Biochemistry and Molecular Biology, Monash University, Wellington Road, Clayton, 3800, Australia.

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http://dx.doi.org/10.1242/jcs.004739DOI Listing
April 2007

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

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

Department of Biochemistry and Molecular Biology, Monash University, Wellington Road, Clayton, Victoria 3800, Australia.

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http://dx.doi.org/10.1074/jbc.M512552200DOI Listing
March 2006