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Multi-omics comparisons of different forms of centronuclear myopathies and the effects of several therapeutic strategies

• Authors : Djeddi, Sarah; Reiss, David; Menuet, Alexia ...

Subjects: genetic disease; congenital myopathy; centronuclear myopathy

• Source: ISSN: 1525-0016.

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DNM2 levels normalization improves muscle phenotypes of a novel mouse model for moderate centronuclear myopathy.

• Authors : de Carvalho Neves J; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS UMR7104, INSERM U1258, 1 rue Laurent Fries, 67404 Illkirch Cedex, France.; Moschovaki-Filippidou F

• Source: Molecular therapy. Nucleic acids [Mol Ther Nucleic Acids] 2023 Jul 17; Vol. 33, pp. 321-334. Date of Electronic Publication: 2023 Jul 17 (Print Publication: 2023).Publisher: Cell Press Country of Publication: United States NLM ID: 101581621 Publication Model: eCollection Cited Medium:

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Development of versatile allele-specific siRNAs able to silence all the dominant dynamin 2 mutations.

• Authors : Dudhal S; Sorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en Myologie, 75013 Paris, France.; Mekzine L

• Source: Molecular therapy. Nucleic acids [Mol Ther Nucleic Acids] 2022 Aug 13; Vol. 29, pp. 733-748. Date of Electronic Publication: 2022 Aug 13 (Print Publication: 2022).Publisher: Cell Press Country of Publication: United States NLM ID: 101581621 Publication Model: eCollection Cited Medium:

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Benefits of therapy by dynamin-2-mutant-specific silencing are maintained with time in a mouse model of dominant centronuclear myopathy.

• Authors : Trochet D; Sorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en Myologie, F-75013 Paris, France.; Prudhon B

• Source: Molecular therapy. Nucleic acids [Mol Ther Nucleic Acids] 2022 Feb 13; Vol. 27, pp. 1179-1190. Date of Electronic Publication: 2022 Feb 13 (Print Publication: 2022).Publisher: Cell Press Country of Publication: United States NLM ID: 101581621 Publication Model: eCollection Cited Medium:

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Dynamin-2 Regulates Postsynaptic Cytoskeleton Organization and Neuromuscular Junction Development.

• Authors : Lin SS; Institute of Molecular Medicine, College of Medicine, National Taiwan University, Taipei 100, Taiwan.; Hsieh TL

Subjects: Cytoskeleton/Cytoskeleton/Cytoskeleton/*physiology ; Dynamin II/Dynamin II/Dynamin II/*metabolism ; Neuromuscular Junction/Neuromuscular Junction/Neuromuscular Junction/*growth & development

• Source: Cell reports [Cell Rep] 2020 Oct 27; Vol. 33 (4), pp. 108310.Publisher: Cell Press Country of Publication: United States NLM ID: 101573691 Publication Model: Print Cited Medium:

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A DNM2 Centronuclear Myopathy Mutation Reveals a Link between Recycling Endosome Scission and Autophagy.

• Authors : Puri C; Department of Medical Genetics, Cambridge Biomedical Campus, Hills Road, Cambridge CB2 0XY, UK; Cambridge Institute for Medical Research, The Keith Peters Building, Cambridge Biomedical Campus, Hills Road, Cambridge CB2 0XY, UK

Subjects: Autophagy* ; Mutation*; Cell Membrane/Cell Membrane/Cell Membrane/*metabolism

• Source: Developmental cell [Dev Cell] 2020 Apr 20; Vol. 53 (2), pp. 154-168.e6.Publisher: Cell Press Country of Publication: United States NLM ID: 101120028 Publication Model: Print Cited Medium:

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

• Authors : Rabai A; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch 67404, France; INSERM U1258, Illkirch 67404, France

• Source: Molecular therapy. Nucleic acids [Mol Ther Nucleic Acids] 2019 Jun 07; Vol. 16, pp. 246-256. Date of Electronic Publication: 2019 Feb 27.Publisher: Cell Press Country of Publication: United States NLM ID: 101581621 Publication Model: Print-Electronic Cited

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

• Authors : Tasfaout H; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch 67400, France; INSERM U964, Illkirch 67400, France

Subjects: Genetic Therapy*/Genetic Therapy*/Genetic Therapy*/methods; Dependovirus/Dependovirus/Dependovirus/*genetics ; Dynamin II/Dynamin II/Dynamin II/*genetics

• Source: Molecular therapy : the journal of the American Society of Gene Therapy [Mol Ther] 2018 Apr 04; Vol. 26 (4), pp. 1082-1092. Date of Electronic Publication: 2018 Feb 14.Publisher: Cell Press Country of Publication: United States NLM ID: 100890581 Publication Model: Print-Electronic Cited

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