Výsledky vyhledávání - "Marie O Pequignot"

Akademický článek

Proof of concept for AAV2/5-mediated gene therapy in iPSC-derived retinal pigment epithelium of a choroideremia patient

Autor: Nicolas Cereso, Marie O Pequignot, Lorenne Robert, Fabienne Becker, Valerie De Luca, Nicolas Nabholz, Valerie Rigau, John De Vos, Christian P Hamel, Vasiliki Kalatzis

Publikováno v: Molecular Therapy: Methods & Clinical Development, Vol 1, Iss C (2014)

Inherited retinal dystrophies (IRDs) comprise a large group of genetically and clinically heterogeneous diseases that lead to progressive vision loss, for which a paucity of disease-mimicking animal models renders preclinical studies difficult. We so

Externí odkaz: https://doaj.org/article/64cb32c215064aeebff7dd41b715228a

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Akademický článek

Fatp1 deficiency affects retinal light response and dark adaptation, and induces age-related alterations.

Autor: Karim Chekroud, Laurent Guillou, Stephane Grégoire, Gilles Ducharme, Emilie Brun, Chantal Cazevieille, Lionel Bretillon, Christian P Hamel, Philippe Brabet, Marie O Pequignot

Publikováno v: PLoS ONE, Vol 7, Iss 11, p e50231 (2012)

FATP1 is involved in lipid transport into cells and in intracellular lipid metabolism. We showed previously that this protein interacts with and inhibits the limiting-step isomerase of the visual cycle RPE65. Here, we aimed to analyze the effect of F

Externí odkaz: https://doaj.org/article/3cc7cd44e72b4dfaac9cce08d26b078e

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Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy

Publikováno v: J Clin Invest
Journal of Clinical Investigation
Journal of Clinical Investigation, American Society for Clinical Investigation, 2019, 130 (1), pp.143-156. ⟨10.1172/JCI128513⟩
Journal of Clinical Investigation, American Society for Clinical Investigation, 2020, 130 (1), pp.143-156. ⟨10.1172/JCI128513⟩
The Journal of Clinical Investigation
Journal of Clinical Investigation, 130, 1, pp. 143-156
Digital.CSIC. Repositorio Institucional del CSIC
instname
Journal of Clinical Investigation, 2019, 130 (1), pp.143-156. ⟨10.1172/JCI128513⟩
Journal of Clinical Investigation, 130, 143-156

© 2020, Piro-Mégy et al.
Mutations in genes encoding components of the mitochondrial DNA (mtDNA) replication machinery cause mtDNA depletion syndromes (MDSs), which associate ocular features with severe neurological syndromes. Here, we identif

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b6a6e3579f08dffaaf3cc8d271ef404
https://pubmed.ncbi.nlm.nih.gov/31738184

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Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo

Autor: Marie Seveno, Mélanie Cavalier, Cécile Delettre, Marie O. Pequignot, Volker Baecker, Emmanuelle Sarzi, Christian P. Hamel, Jolanta Malgorzata Jagodzinska

Publikováno v: Journal of Visualized Experiments.

Structural changes in the retina are common manifestations of ophthalmic diseases. Optical coherence tomography (OCT) enables their identification in vivo-rapidly, repetitively, and at a high resolution. This protocol describes OCT imaging in the mou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fe8f962eac628606b040275a21b823b
https://doi.org/10.3791/55865

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Loss of function of Ywhah in mice induces deafness and cochlear outer hair cells' degeneration

Publikováno v: Cell Death Discovery
Cell Death Discovery, Springer Nature, 2016, 2 (1), ⟨10.1038/cddiscovery.2016.17⟩
Cell Death Discovery, Springer Nature, 2016, 2 (1), pp.16017. ⟨10.1038/cddiscovery.2016.17⟩
Cell Death Discovery, 2016, 2 (1), pp.16017. ⟨10.1038/cddiscovery.2016.17⟩

In vertebrates, 14-3-3 proteins form a family of seven highly conserved isoforms with chaperone activity, which bind phosphorylated substrates mostly involved in regulatory and checkpoint pathways. 14-3-3 proteins are the most abundant protein in the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d35d5fb586e69f2f7a2907aeeee8434
https://www.hal.inserm.fr/inserm-02380055

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A dominant mutation in MAPKAPK3 , an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium

Publikováno v: Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2016, 25 (5), pp.916-926. ⟨10.1093/hmg/ddv624⟩

International audience; Inherited retinal dystrophies are clinically and genetically heterogeneous with significant number of cases remaining genetically unresolved. We studied a large family from the West Indies islands with a peculiar retinal disea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b02dffcca4a550cc18463387bb8881e
https://hal.archives-ouvertes.fr/hal-01882151

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Contents Vol. 45, 2011

Publikováno v: Ophthalmic Research. 45:I-IV

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::95bf852774b3511c442d42e628e9bae4
https://doi.org/10.1159/000327887

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Cultured Cells from the Human Oocyte Cumulus Niche Are Efficient Feeders to Propagate Pluripotent Stem Cells

Autor: Said Assou, Emilie Pourret, Samir Hamamah, Ounissa Aït-Ahmed, Valérie Rigau, Marie O. Pequignot, Vasiliki Kalatzis

Publikováno v: Stem Cells and Development
Stem Cells and Development, Mary Ann Liebert, 2015, 24 (19), pp.2317-2327. ⟨10.1089/scd.2015.0043⟩

International audience; Pluripotency is at the crossroads of stem cell research and biology of reproduction. The mature metaphase II oocyte contains the key factors for pluripotency induction and maintenance as assessed by its capacity to reprogram s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4f9b5c1ad0992f65dbc3dc258219fdc
https://hal.umontpellier.fr/hal-01977969

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AIF deficiency compromises oxidative phosphorylation

Publikováno v: The EMBO Journal. 23:4679-4689

Apoptosis-inducing factor (AIF) is a mitochondrial flavoprotein that, after apoptosis induction, translocates to the nucleus where it participates in apoptotic chromatinolysis. Here, we show that human or mouse cells lacking AIF as a result of homolo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e578f4247502c38ba134e3694c9559f4
https://doi.org/10.1038/sj.emboj.7600461

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Expression of SR–BI receptor and StAR protein in rat ocular tissues

Autor: Dominique Marchant, K. Sainton, Marie O. Pequignot, Sandrine Sallé, Dale B. Hales, Marc Abitbol, Alexandra C. Provost, Stéphanie Gadin

Publikováno v: Comptes Rendus Biologies. 326:841-851

The class-B type-I scavenger receptor (SR-BI) plays a key role in cholesterol homeostasis; it mediates the selective uptake of lipoprotein cholesterol to steroidogenic tissues. We show by RT-PCR, western blot, in situ hybridization and immunohistoche

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25ee2583b672f06c980c180268a1c35a
https://doi.org/10.1016/j.crvi.2003.09.001

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