Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Christelle Etard"'
Autor:
Markus Masek, Christelle Etard, Claudia Hofmann, Andreas J. Hülsmeier, Jingjing Zang, Masanari Takamiya, Matthias Gesemann, Stephan C. F. Neuhauss, Thorsten Hornemann, Uwe Strähle, Ruxandra Bachmann-Gagescu
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)
Primary cilia are key sensory organelles whose dysfunction leads to ciliopathy disorders such as Bardet-Biedl syndrome (BBS). Here they identify a role for Bbs1 in lipid homeostasis of photoreceptor outer segments in zebrafish, which may contribute t
Externí odkaz:
https://doaj.org/article/7d1a8a9719c04d5db8028d758dd8d1e3
Autor:
Ariane Kröll‐Hermi, Frédéric Ebstein, Corinne Stoetzel, Véronique Geoffroy, Elise Schaefer, Sophie Scheidecker, Séverine Bär, Masanari Takamiya, Koichi Kawakami, Barbara A Zieba, Fouzia Studer, Valerie Pelletier, Carine Eyermann, Claude Speeg‐Schatz, Vincent Laugel, Dan Lipsker, Florian Sandron, Steven McGinn, Anne Boland, Jean‐François Deleuze, Lauriane Kuhn, Johana Chicher, Philippe Hammann, Sylvie Friant, Christelle Etard, Elke Krüger, Jean Muller, Uwe Strähle, Hélène Dollfus
Publikováno v:
EMBO Molecular Medicine, Vol 12, Iss 7, Pp n/a-n/a (2020)
Abstract The ubiquitin–proteasome system degrades ubiquitin‐modified proteins to maintain protein homeostasis and to control signalling. Whole‐genome sequencing of patients with severe deafness and early‐onset cataracts as part of a neurologi
Externí odkaz:
https://doaj.org/article/84cd90f8c2f147a682d5ff88f7111dd9
Autor:
Corinne Stoetzel, Séverine Bär, Johan-Owen De Craene, Sophie Scheidecker, Christelle Etard, Johana Chicher, Jennifer R. Reck, Isabelle Perrault, Véronique Geoffroy, Kirsley Chennen, Uwe Strähle, Philippe Hammann, Sylvie Friant, Hélène Dollfus
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)
VPS15 is known as a VPS34-associated protein that functions in intracellular trafficking and autophagy. Here the authors identify a role for VPS15 in ciliopathy and ciliary phenotypes, and show that it interacts with GM130 and functions in IFT20-depe
Externí odkaz:
https://doaj.org/article/2f97f4e03fb6494dba321c86f0391b33
Publikováno v:
Data in Brief, Vol 8, Iss , Pp 61-68 (2016)
Formation of the contractile myofibril of the skeletal muscle is a complex process which when perturbed leads to muscular dystrophy. Herein, we provide a mRNAseq dataset on three different zebrafish mutants affecting muscle organization during embryo
Externí odkaz:
https://doaj.org/article/be63221c574042b59939d6660fff6c9e
Publikováno v:
PLoS ONE, Vol 13, Iss 11, p e0207747 (2018)
In zebrafish, the gene choline acetyltransferase a (chata) encodes one of the two ChAT orthologs responsible for the synthesis of acetylcholine. Acetylcholine (ACh) is essential for neuromuscular transmission and its impaired synthesis by ChAT can le
Externí odkaz:
https://doaj.org/article/a5d3d24de899472d854ba58884ceb177
Autor:
Jingjing Zang, Stephan C.F. Neuhauss, Christelle Etard, Claudia Hofmann, Thorsten Hornemann, Matthias Gesemann, Uwe Strähle, Markus Masek, Ruxandra Bachmann-Gagescu, Masanari Takamiya, Andreas J. Hülsmeier
SummaryPrimary cilia are key sensory organelles whose dysfunction leads to ciliopathy disorders such as Bardet-Biedl syndrome (BBS). Retinal degeneration is common in ciliopathies, since the outer segments (OSs) of photoreceptors are highly specializ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b186a8b8f0f2bb4680545a801f425b5c
https://www.zora.uzh.ch/id/eprint/206132/
https://www.zora.uzh.ch/id/eprint/206132/
Autor:
Markus, Masek, Christelle, Etard, Claudia, Hofmann, Andreas J, Hülsmeier, Jingjing, Zang, Masanari, Takamiya, Matthias, Gesemann, Stephan C F, Neuhauss, Thorsten, Hornemann, Uwe, Strähle, Ruxandra, Bachmann-Gagescu
Publikováno v:
Nature communications. 13(1)
Primary cilia are key sensory organelles whose dysfunction leads to ciliopathy disorders such as Bardet-Biedl syndrome (BBS). Retinal degeneration is common in ciliopathies, since the outer segments (OSs) of photoreceptors are highly specialized prim
Autor:
Sophie Scheidecker, Elke Krüger, Vincent Laugel, Masanari Takamiya, Jean Muller, Jean-François Deleuze, Steven McGinn, Dan Lipsker, Elise Schaefer, Fouzia Studer, Koichi Kawakami, Philippe Hammann, Valérie Pelletier, Barbara A. Zieba, Séverine Bär, Anne Boland, Christelle Etard, Frédéric Ebstein, Sylvie Friant, Corinne Stoetzel, Johana Chicher, Ariane Kröll-Hermi, Lauriane Kuhn, Florian Sandron, Uwe Strähle, Hélène Dollfus, Véronique Geoffroy, Claude Speeg-Schatz
Whole-genome sequencing was performed on patients with severe deafness and early-onset cataracts as part of a neurological, sensorial and cutaneous novel syndrome. A unique deep intronic homozygous variant in thePSMC3gene (c.1127+337A>G, p.Ser376Argf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1299d52081534a49d9d0525a41c729ce
Autor:
Fouzia Studer, Corinne Stoetzel, Jean Muller, Amélie Piton, Aline Schneider, Olivier Poch, Christelle Etard, Damien Plassard, Clarisse Delvallée, Sabine Sigaudy, Hélène Dollfus, Alejandro Estrada-Cuzcano, Uwe Strähle, Elise Schaefer, Francesca Mattioli, Sophie Scheidecker, Kirsley Chennen, Véronique Geoffroy
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2019, ⟨10.1002/humu.23924⟩
Human Mutation, 2019, ⟨10.1002/humu.23924⟩
Human Mutation, Wiley, 2019, ⟨10.1002/humu.23924⟩
Human Mutation, 2019, ⟨10.1002/humu.23924⟩
Polydactyly is one of the most frequent inherited defects of the limbs characterized by supernumerary digits and high-genetic heterogeneity. Among the many genes involved, either in isolated or syndromic forms, eight have been implicated in postaxial
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f19babfee3693f89b8c31ce6f7cab35a
https://hal.archives-ouvertes.fr/hal-02304111/file/islandora_81477.pdf
https://hal.archives-ouvertes.fr/hal-02304111/file/islandora_81477.pdf
Autor:
Wolfgang Rottbauer, Steven Rudeck, Steffen Just, Christelle Etard, Rüdiger Rudolf, Uwe Strähle, Muzamil Majid Khan
Publikováno v:
Genesis (New York, N.y. : 2000)
Summary: Gene therapeutic approaches to cure genetic diseases require tools to express the rescuing gene exclusively within the affected tissues. Viruses are often chosen as gene transfer vehicles but they have limited capacity for genetic informatio