EG

Evelyne Gicquel

21
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Publications

Image document

Muscle‐specific, liver‐detargeted adeno‐associated virus gene therapy rescues Pompe phenotype in adult and neonate Gaa −/− mice

P. Sellier , P. Vidal , B. Bertin , E. Gicquel , E Bertil‐froidevaux et al.
Journal of Inherited Metabolic Disease, 2023, 47 (1), pp.119-134. ⟨10.1002/jimd.12625⟩
Article dans une revue hal-04795500 v1
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CRISPR-Cas9 KO Cell Line Generation and Development of a Cell-Based Potency Assay for rAAV-FKRP Gene Therapy

Marine Geoffroy , Louna Pili , Valentina Buffa , Maëlle Caroff , Anne Bigot et al.
Cells, 2023, 12 (20), pp.2444. ⟨10.3390/cells12202444⟩
Article dans une revue hal-04795434 v1
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Dlk1-Dio3 cluster miRNAs regulate mitochondrial functions in the dystrophic muscle in Duchenne muscular dystrophy

Ai Vu Hong , Nathalie Bourg , Peggy Sanatine , Jerome Poupiot , Karine Charton et al.
Life Science Alliance, 2022, 6 (1), pp.e202201506. ⟨10.26508/lsa.202201506⟩
Article dans une revue hal-04795477 v1
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Skeletal Muscle Cells Derived from Induced Pluripotent Stem Cells: A Platform for Limb Girdle Muscular Dystrophies

Celine Bruge , Marine Geoffroy , Manon Benabides , Emilie Pellier , Evelyne Gicquel et al.
Biomedicines, 2022, 10 (6), pp.1428. ⟨10.3390/biomedicines10061428⟩
Article dans une revue hal-03858917 v1
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Minimal Consequences of CMAH and DBA/2J Background on a FKRP Deficient Model

Camille Vaubourg , Evelyne Gicquel , Isabelle Richard , William Lostal , Jessica Bellec
Journal of Neuromuscular Diseases, 2021, 8 (5), pp.785-793. ⟨10.3233/JND-200487⟩
Article dans une revue hal-03003866 v2
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Functional and cellular localization diversity associated with Fukutin-related protein patient genetic variants

Sara F Henriques , Evelyne Gicquel , Justine Marsolier , Isabelle Richard
Human Mutation, 2019, 40 (10), pp.1874-1885. ⟨10.1002/humu.23827⟩
Article dans une revue hal-02177499 v1

AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expression

Evelyne Gicquel , Natacha Maizonnier , Steven Foltz , William Martin , Nathalie Bourg et al.
Human Molecular Genetics, 2017, 26 (10), pp.1952-1965. ⟨10.1093/hmg/ddx066⟩
Article dans une revue hal-02177575 v1

γ-sarcoglycan and dystrophin mutation spectrum in an Algerian cohort

Evelyne Gicquel , Natacha Maizonnier , Steven Foltz , William Martin , Nathalie Bourg et al.
Muscle & nerve. Supplement., 2017, 56 (1), pp.129-135. ⟨10.1002/mus.25443⟩
Article dans une revue hal-02333075 v1

216th ENMC international workshop: Clinical readiness in FKRP related myopathies January 15–17, 2016 Naarden, The Netherlands

Isabelle Richard , Jean-Pierre Laurent , Sebahattin Cirak , John Vissing , Susan Brown et al.
Neuromuscular Disorders, 2016, 26 (10), pp.717-724. ⟨10.1016/j.nmd.2016.08.012⟩
Article dans une revue hal-02333077 v1

Assessing dystrophies and other muscle diseases at the nanometer scale by atomic force microscopy

Ruthger van Zwieten , Stefania Puttini , Małgorzata Lekka , Guillaume Witz , Evelyne Gicquel-Zouida et al.
Nanomedicine, 2014, 9 (4), pp.393-406. ⟨10.2217/NNM.12.215⟩
Article dans une revue hal-02336895 v1
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A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome.

Gaëlle Blandin , Sylvie Marchand , Karine Charton , Nathalie Danièle , Evelyne Gicquel et al.
Skeletal Muscle, 2013, 3 (1), pp.3. ⟨10.1186/2044-5040-3-3⟩
Article dans une revue inserm-00805816 v1

The Phenotype of Dysferlin-Deficient Mice Is Not Rescued by Adeno-Associated Virus–Mediated Transfer of Anoctamin 5

Florence Le Roy , Laurence Suel , Jérôme Poupiot , Marc Bartoli , François Monjaret et al.
Human gene therapy. Clinical development, 2013, 24 (2), pp.65-76. ⟨10.1089/humc.2012.217⟩
Article dans une revue hal-02336935 v1

Rescue of Sarcoglycan Mutations by Inhibition of Endoplasmic Reticulum Quality Control is Associated with Minimal Structural Modifications

Tayebeh Soheili , Evelyne Gicquel , Jérôme Poupiot , Luu N'Guyen , Florence Le Roy et al.
Human Mutation, 2012, 33 (2), pp.429-439. ⟨10.1002/humu.21659⟩
Article dans une revue istex hal-01610024 v1

Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies

Karine Charton , Nathalie Danièle , Anna Vihola , Carinne Roudaut , Evelyne Gicquel et al.
Human Molecular Genetics, 2010, 19 (23), pp.4608-4624. ⟨10.1093/hmg/ddq388⟩
Article dans une revue hal-02321460 v1

Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation.

Marc Bartoli , Evelyne Gicquel , Laetitia Barrault , Tayebeh Soheili , Marie Malissen et al.
Human Molecular Genetics, 2008, 17 (9), pp.1214-21. ⟨10.1093/hmg/ddn029⟩
Article dans une revue hal-00294192 v1

NF‐NF ‐κ BB‐dependent expression of the antiapoptotic factor c‐FLIP is regulated by calpain 3, the protein involved in limb‐girdle muscular dystrophy type 2A

Béatrice Benayoun , Stephen Baghdiguian , Alicia Lajmanovich , Marc Bartoli , Nathalie Daniele et al.
FASEB Journal, 2008, 22 (5), pp.1521-1529. ⟨10.1096/fj.07-8701com⟩
Article dans une revue hal-03674309 v1

NF-kappa B-dependent expression of the antiapoptotic factor c-FLIP is regulated by calpain 3, the protein involved in limb-girdle muscular dystrophy type 2A

Beatrice Benayoun , Stephen Baghdiguian , Alicia Lajmanovich , Marc Bartoli , Nathalie Danièle et al.
FASEB Journal, 2008, 22 (5), pp.1521-1529. ⟨10.1096/fj.07-8701com⟩
Article dans une revue hal-01610041 v1
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Phenotypic correction of alpha-sarcoglycan deficiency by intra-arterial injection of a muscle-specific serotype 1 rAAV vector

Françoise Fougerousse , Marc Bartoli , Jérôme Poupiot , Ludovic Arandel , Muriel Durand et al.
Molecular Therapy, 2007, 15 (1), pp.53-61. ⟨10.1038/sj.mt.6300022⟩
Article dans une revue hal-01610043 v1

Safety and efficacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb-girdle muscular dystrophy type 2A

Marc Bartoli , C Roudaut , S Martin , F Fougerousse , L Suel et al.
Molecular Therapy, 2006, 13 (2), pp.250-259. ⟨10.1016/j.ymthe.2005.09.017⟩
Article dans une revue hal-01610047 v1

Adeno-Associated Virus Pseudotype 5 Vector Improves Gene Transfer in Arthritic Joints

F. Apparailly , M. Khoury , M.J.B. Vervoordeldonk , J. Adriaansen , E. Gicquel et al.
Human Gene Therapy, 2005, 16 (4), pp.426-434. ⟨10.1089/hum.2005.16.426⟩
Article dans une revue hal-04942439 v1

Unprecedented low dose of AAV-mediated gene transfer corrects the pathology in a model for Fukutin-Related-Protein deficiencies

Evelyne Gicquel , Marine Faivre , Susan Brown , Laurine Buscara , Nathalie Daniele et al.
ASGCT 24th Annual Meeting - Session "Metabolic and Muscle Diseases, Tissue and Immunological Engineering", American Society of Gene & Cell Therapy, May 2021, Virtual, France
Communication dans un congrès hal-04955718 v1