Výsledky vyhledávání - "Sofia Benkhelifa"

Akademický článek

Muscle regeneration affects Adeno Associated Virus 1 mediated transgene transcription

Autor: Amédée Mollard, Cécile Peccate, Anne Forand, Julie Chassagne, Laura Julien, Pierre Meunier, Zoheir Guesmia, Thibaut Marais, Marc Bitoun, France Piétri-Rouxel, Sofia Benkhelifa-Ziyyat, Stéphanie Lorain

Publikováno v: Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)

Abstract Duchenne muscular dystrophy is a severe neuromuscular disease causing a progressive muscle wasting due to mutations in the DMD gene that lead to the absence of dystrophin protein. Adeno-associated virus (AAV)-based therapies aiming to restor

Externí odkaz: https://doaj.org/article/5ed91629937e4299abe5d7e2bb11aa5c

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Akademický článek

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

Autor: Delphine Trochet, Bernard Prudhon, Lylia Mekzine, Mégane Lemaitre, Maud Beuvin, Laura Julien, Sofia Benkhelifa-Ziyyat, Mai Thao Bui, Norma Romero, Marc Bitoun

Publikováno v: Molecular Therapy: Nucleic Acids, Vol 27, Iss , Pp 1179-1190 (2022)

Dominant dynamin 2 (DNM2) mutations are responsible for the autosomal dominant centronuclear myopathy (AD-CNM), a rare progressive neuromuscular disorder ranging from severe neonatal to mild adult forms. We previously demonstrated that mutant-specifi

Externí odkaz: https://doaj.org/article/3866d36cc9c9433796905ac149308456

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Akademický článek

Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy

Autor: Feriel Azibani, Astrid Brull, Ludovic Arandel, Maud Beuvin, Isabelle Nelson, Arnaud Jollet, Esma Ziat, Bernard Prudhon, Sofia Benkhelifa-Ziyyat, Marc Bitoun, Stéphanie Lorain, Gisèle Bonne, Anne T. Bertrand

Publikováno v: Molecular Therapy: Nucleic Acids, Vol 10, Iss , Pp 376-386 (2018)

We assessed the potential of Lmna-mRNA repair by spliceosome-mediated RNA trans-splicing as a therapeutic approach for LMNA-related congenital muscular dystrophy. This gene therapy strategy leads to reduction of mutated transcript expression for the

Externí odkaz: https://doaj.org/article/2bc39faefe1040038e4222aaa680707a

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Akademický článek

Allele‐specific silencing therapy for Dynamin 2‐related dominant centronuclear myopathy

Autor: Delphine Trochet, Bernard Prudhon, Maud Beuvin, Cécile Peccate, Stéphanie Lorain, Laura Julien, Sofia Benkhelifa‐Ziyyat, Aymen Rabai, Kamel Mamchaoui, Arnaud Ferry, Jocelyn Laporte, Pascale Guicheney, Stéphane Vassilopoulos, Marc Bitoun

Publikováno v: EMBO Molecular Medicine, Vol 10, Iss 2, Pp 239-253 (2017)

Abstract Rapid advances in allele‐specific silencing by RNA interference established a strategy of choice to cure dominant inherited diseases by targeting mutant alleles. We used this strategy for autosomal‐dominant centronuclear myopathy (CNM),

Externí odkaz: https://doaj.org/article/a4426586b535417d812fa75336f2413c

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Akademický článek

The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD

Publikováno v: Biomedicines, Vol 9, Iss 2, p 219 (2021)

In skeletal muscle, long noncoding RNAs (lncRNAs) are involved in dystrophin protein stabilization but also in the regulation of myocytes proliferation and differentiation. Hence, they could represent promising therapeutic targets and/or biomarkers f

Externí odkaz: https://doaj.org/article/968c00f1b0d148c5bfa7adb3b5474094

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Splicing efficiency of minor introns in a mouse model of SMA predominantly depends on their branchpoint sequence and can involve the contribution of major spliceosome components

Autor: Valentin Jacquier, Manon Prévot, Thierry Gostan, Rémy Bordonné, Sofia Benkhelifa-Ziyyat, Martine Barkats, Johann Soret

Publikováno v: RNA. 28:303-319

Spinal muscular atrophy (SMA) is a devastating neurodegenerative disease caused by reduced amounts of the ubiquitously expressed Survival of Motor Neuron (SMN) protein. In agreement with its crucial role in the biogenesis of spliceosomal snRNPs, SMN-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6382613e5c295623337d23ad0f71341b
https://doi.org/10.1261/rna.078329.120

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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

Autor: Delphine, Trochet, Bernard, Prudhon, Lylia, Mekzine, Mégane, Lemaitre, Maud, Beuvin, Laura, Julien, Sofia, Benkhelifa-Ziyyat, Mai Thao, Bui, Norma, Romero, Marc, Bitoun

Publikováno v: Molecular therapy. Nucleic acids. 27

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::af821a1c0d12fd09c34ea9e1c5470721
https://pubmed.ncbi.nlm.nih.gov/35282416

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Clathrin plaques and associated actin anchor intermediate filaments in skeletal muscle

Autor: Jeanne Lainé, Pascale Guicheney, Guy Brochier, Stéphane Vassilopoulos, Mai Thao Bui, Agathe Franck, E. Lacène, Eline Lemerle, Norma B. Romero, Marc Bitoun, Gilles Moulay, Sofia Benkhelifa-Ziyyat, Michael Trichet, Christel Gentil

Publikováno v: Molecular Biology of the Cell
Molecular Biology of the Cell, American Society for Cell Biology, 2019, 30 (5), pp.579-590. ⟨10.1091/mbc.E18-11-0718⟩
Molecular Biology of the Cell, 2019, 30 (5), pp.579-590. ⟨10.1091/mbc.E18-11-0718⟩

International audience; Clathrin plaques are stable features of the plasma membrane observed in several cell types. They are abundant in muscle, where they localize at costameres that link the contractile apparatus to the sarcolemma and connect the s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c601ac0f72c7bad43d201474c12573f3
http://europepmc.org/articles/PMC6589689

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Dystrophin Threshold Level Necessary for Normalization of Neuronal Nitric Oxide Synthase, Inducible Nitric Oxide Synthase, and Ryanodine Receptor-Calcium Release Channel Type 1 Nitrosylation in Golden Retriever Muscular Dystrophy Dystrophinopathy

Autor: Christel Gentil, Caroline Le Guiner, Sestina Falcone, Jean-Yves Hogrel, Cécile Peccate, Stéphanie Lorain, Sofia Benkhelifa-Ziyyat, Lydie Guigand, Marie Montus, Laurent Servais, Thomas Voit, France Piétri-Rouxel

At present, the clinically most advanced strategy to treat Duchenne muscular dystrophy (DMD) is the exon-skipping strategy. Whereas antisense oligonucleotide-based clinical trials are underway for DMD, it is essential to determine the dystrophin rest

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab0d1564d66957b55cd490f3e001e35d
https://doi.org/10.1089/hum.2016.041

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Transduction Efficiency of Adeno-Associated Virus Serotypes After Local Injection in Mouse and Human Skeletal Muscle

Autor: Maud Chapart, Jamila Dhiab, Mona Bensalah, Ludovic Arandel, Laura Muraine, Sofia Benkhelifa-Ziyyat, Capucine Trollet, Elisa Negroni, Anne Bigot, Vincent Mouly, Stéphane Vasseur, Gillian Butler-Browne, Alix Marhic, Gonzalo Córdova

Publikováno v: Human Gene Therapy
Human Gene Therapy, Mary Ann Liebert, In press, ⟨10.1089/hum.2019.173⟩
Hum Gene Ther
Human Gene Therapy, In press, ⟨10.1089/hum.2019.173⟩
Human Gene Therapy, Mary Ann Liebert, 2020, 31 (3-4), pp.233-240. ⟨10.1089/hum.2019.173⟩

International audience; The adeno-associated virus (AAV) vector is an efficient tool for gene delivery in skeletal muscle. AAV-based therapies show promising results for treatment of various genetic disorders, including muscular dystrophy. These dyst

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6786c03363e0ac9af5a1b805a211bbf7
https://hal.sorbonne-universite.fr/hal-02472542/document

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