Výsledky vyhledávání - "Martine Barkats"

Akademický článek

Targeting γ-secretase triggers the selective enrichment of oligomeric APP-CTFs in brain extracellular vesicles from Alzheimer cell and mouse models

Autor: Inger Lauritzen, Anaïs Bécot, Alexandre Bourgeois, Raphaëlle Pardossi-Piquard, Maria-Grazia Biferi, Martine Barkats, Fréderic Checler

Publikováno v: Translational Neurodegeneration, Vol 8, Iss 1, Pp 1-17 (2019)

Abstract Background We recently demonstrated an endolysosomal accumulation of the β-secretase-derived APP C-terminal fragment (CTF) C99 in brains of Alzheimer disease (AD) mouse models. Moreover, we showed that the treatment with the γ-secretase in

Externí odkaz: https://doaj.org/article/027cf11112fc4c188a93980afe965595

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Akademický článek

A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome

Autor: Valerie Matagne, Yann Ehinger, Lydia Saidi, Ana Borges-Correia, Martine Barkats, Marc Bartoli, Laurent Villard, Jean-Christophe Roux

Publikováno v: Neurobiology of Disease, Vol 99, Iss , Pp 1-11 (2017)

Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder that is primarily caused by mutations in the methyl CpG binding protein 2 gene (MECP2). RTT is the second most prevalent cause of intellectual disability in girls and there is curre

Externí odkaz: https://doaj.org/article/dede79c42fc643918696c45b6461c7be

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Akademický článek

Efficacy and biodistribution analysis of intracerebroventricular administration of an optimized scAAV9-SMN1 vector in a mouse model of spinal muscular atrophy

Autor: Nicole Armbruster, Annalisa Lattanzi, Matthieu Jeavons, Laetitia Van Wittenberghe, Bernard Gjata, Thibaut Marais, Samia Martin, Alban Vignaud, Thomas Voit, Fulvio Mavilio, Martine Barkats, Ana Buj-Bello

Publikováno v: Molecular Therapy: Methods & Clinical Development, Vol 3, Iss C (2016)

Spinal muscular atrophy (SMA) is an autosomal recessive disease of variable severity caused by mutations in the SMN1 gene. Deficiency of the ubiquitous SMN function results in spinal cord α-motor neuron degeneration and proximal muscle weakness. Gen

Externí odkaz: https://doaj.org/article/c3375dc222574ce59427a986034859f1

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Akademický článek

A single intravenous AAV9 injection mediates bilateral gene transfer to the adult mouse retina.

Autor: Alexis-Pierre Bemelmans, Sandra Duqué, Christel Rivière, Stéphanie Astord, Mélissa Desrosiers, Thibault Marais, José-Alain Sahel, Thomas Voit, Martine Barkats

Publikováno v: PLoS ONE, Vol 8, Iss 4, p e61618 (2013)

Widespread gene delivery to the retina is an important challenge for the treatment of retinal diseases, such as retinal dystrophies. We and others have recently shown that the intravenous injection of a self-complementary (sc) AAV9 vector can direct

Externí odkaz: https://doaj.org/article/e048910f81a046eda072ae57275f1bdd

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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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Amyotrophie spinale infantile

Autor: Martine Barkats

Publikováno v: médecine/sciences
médecine/sciences, EDP Sciences, 2020, 36 (2), pp.137-140. ⟨10.1051/medsci/2020010⟩

International audience; Spinal muscular atrophy (SMA) is the most common genetic disease leading to infant mortality. This neuro-muscular disorder is caused by the loss or mutation of the telomeric copy of the ‘survival of motor neuron’ (Smn) gen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d7614f01f8caf4c1ec488c096ac0eed
https://doi.org/10.1051/medsci/2020010

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Systemic treatment of Fabry disease using a novel AAV9 vector expressing α-galactosidase A

Autor: Martine Barkats, Irene Viéitez-González, África González-Fernández, Mathilde Cohen-Tannoudji, Andrea Fernandez-Carrera, Beatriz San-Millán-Tejado, Maria Grazia Biferi, Vanesa Domínguez, Saida Ortolano, Susana Teijeira-Bautista, Olga Souto-Rodriguez, Tania Pérez-Márquez, Thibaut Marais, Soraya Barrera, Andrea Garcia-Silva

Publikováno v: Investigo. Repositorio Institucional de la Universidade de Vigo
Universidade de Vigo (UVigo)
Molecular Therapy. Methods & Clinical Development
Molecular Therapy-Methods and Clinical Development
Molecular Therapy-Methods and Clinical Development, 2021, 20, pp.1-17. ⟨10.1016/j.omtm.2020.10.016⟩
Molecular Therapy-Methods and Clinical Development, Nature Publishing Group, 2021, 20, pp.1-17. ⟨10.1016/j.omtm.2020.10.016⟩
Molecular Therapy: Methods & Clinical Development, Vol 20, Iss, Pp 1-17 (2021)

Fabry disease is a rare X-linked disorder affecting α-galactosidase A, a rate-limiting enzyme in lysosomal catabolism of glycosphingolipids. Current treatments present important limitations, such as low half-life and limited distribution, which gene

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2885db2614f355e811d45393c2dc42a5
https://linkinghub.elsevier.com/retrieve/pii/S2329050120302205

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[SMA: from gene discovery to gene therapy]

Autor: Martine, Barkats

Publikováno v: Medecine sciences : M/S. 36(2)

Spinal muscular atrophy (SMA) is the most common genetic disease leading to infant mortality. This neuro-muscular disorder is caused by the loss or mutation of the telomeric copy of the 'survival of motor neuron' (Smn) gene, termed SMN1. Loss of SMN1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8d307449415cdc287fe565865c826fcb
https://pubmed.ncbi.nlm.nih.gov/32129749

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Targeting γ-secretase triggers the selective enrichment of oligomeric APP-CTFs in brain extracellular vesicles from Alzheimer cell and mouse models

Autor: Alexandre Bourgeois, Martine Barkats, Inger Lauritzen, Raphaëlle Pardossi-Piquard, Maria-Grazia Biferi, Frédéric Checler, Anaïs Bécot

Publikováno v: Translational Neurodegeneration
Translational Neurodegeneration, [London] : BioMed Central, 2012-, 2019, 8 (1), ⟨10.1186/s40035-019-0176-6⟩
Translational Neurodegeneration, Vol 8, Iss 1, Pp 1-17 (2019)
Translational Neurodegeneration, [London] : BioMed Central, 2012-, 2019, 8, ⟨10.1186/s40035-019-0176-6⟩

BackgroundWe recently demonstrated an endolysosomal accumulation of the β-secretase-derived APP C-terminal fragment (CTF) C99 in brains of Alzheimer disease (AD) mouse models. Moreover, we showed that the treatment with the γ-secretase inhibitor (D

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edfc8b0e8451b44f6d787dd526cb4f11
https://hal.archives-ouvertes.fr/hal-02556329

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