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	Pour les 37 documents Envoyer sur ORCID RSS ATOM Exporter BibTeX XML-TEI CSV RTF EndNote PDF HTML Export avancé	Page : Page précédente 1 2 Page suivante	triés par Pertinence Auteur A→Z Auteur Z→A Titre A→Z Titre Z→A Date de publication croissante Date de publication décroissante Date de dépôt croissante Date de dépôt décroissante

		WANTED – Dead or alive: Myotubularins, a large disease-associated protein family Matthieu Raess , Sylvie Friant , Belinda S. Cowling , Jocelyn Laporte Advances in Biological Regulation, 2017, 63, pp.49-58. ⟨10.1016/j.jbior.2016.09.001⟩ Article dans une revue hal-02378733v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Phosphoinositides, Major Actors in Membrane Trafficking and Lipid Signaling Pathways Johan-Owen de Craene , Dimitri Bertazzi , Séverine Bär , Sylvie Friant International Journal of Molecular Sciences, 2017, 18 (3), pp.634 - 634. ⟨10.3390/ijms18030634⟩ Article dans une revue hal-01771887v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia Diane Doummar , Christel Dentel , Romane Lyautey , Julia Metreau , Boris Keren , et al. European Journal of Human Genetics, 2020, ⟨10.1038/s41431-020-0641-9⟩ Article dans une revue hal-02904062v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Myotubularin MTM1 Involved in Centronuclear Myopathy and its Roles in Human and Yeast Cells Dimitri Bertazzi , Johan-Owen de Craene , Sylvie Friant Journal of Molecular and Genetic Medicine, 2015, 08 (02), ⟨10.4172/1747-0862.1000116⟩ Article dans une revue hal-01771797v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization Gina L. O’grady , Heather A. Best , Tamar E. Sztal , Vanessa Schartner , Myriam Sanjuan-Vazquez , et al. American Journal of Human Genetics, 2016, 99 (5), pp.1086-1105. ⟨10.1016/j.ajhg.2016.09.005⟩ Article dans une revue hal-02371579v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Expanding the phenotypic spectrum in neurological disorders associated with mutations in KARS gene (lysyl-tRNA synthetase) by the identification of a novel mutation Sophie Scheidecker , Séverine Bär , Corinne Stoetzel , Véronique Geoffroy , Béatrice Lannes , et al. 52nd European Society of Human Genetics (ESHG) Conference, Jun 2019, Gothenburg, Sweden. pp.283 Communication dans un congrès hal-02378865v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Lsb1 Is a Negative Regulator of Las17 Dependent Actin Polymerization Involved in Endocytosis Matthias Spiess , Johan-Owen de Craene , Alphé E Michelot , Bruno Rinaldi , Aline Huber , et al. PLoS ONE, 2013, 8 (4), pp.61147 - 61147. ⟨10.1371/journal.pone.0061147⟩ Article dans une revue hal-01771803v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta Virginie Laugel-Haushalter , Séverine Bär , Elise Schaefer , Corinne Stoetzel , Véronique Geoffroy , et al. Frontiers in Genetics, 2019, 10, pp.504. ⟨10.3389/fgene.2019.00504⟩ Article dans une revue hal-02370092v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Yeast as a Model to Understand Actin-Mediated Cellular Functions in Mammals—Illustrated with Four Actin Cytoskeleton Proteins Zain Akram , Ishtiaq Ahmed , Heike Mack , Ramandeep Kaur , Richard C Silva , et al. Cells, 2020, 9 (3), pp.672. ⟨10.3390/cells9030672⟩ Article dans une revue hal-02904086v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Evolutionary analysis of the ENTH/ANTH/VHS protein superfamily reveals a coevolution between membrane trafficking and metabolism. Johan-Owen de Craene , Raymond Ripp , Odile Lecompte , Julie D. Thompson , Olivier Poch , et al. BMC Genomics, 2012, 13 (1), pp.297. ⟨10.1186/1471-2164-13-297⟩ Article dans une revue inserm-00742840v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi Corinne Stoetzel , Séverine Bär , Johan-Owen de Craene , Sophie Scheidecker , Christelle Etard , et al. Nature Communications, 2016, 7, ⟨10.1038/ncomms13586⟩ Article dans une revue hal-01771886v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Increased ubiquitin-dependent degradation can replace the essential requirement for heat shock protein induction. Sylvie Friant , Karsten D Meier , Howard Riezman EMBO Journal, 2003, 22 (15), pp.3783-91. ⟨10.1093/emboj/cdg375⟩ Article dans une revue hal-00153225v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Pkh1/2-dependent phosphorylation of Vps27 regulates ESCRT-I recruitment to endosomes Joelle Morvan , Bruno Rinaldi , Sylvie Friant Molecular Biology of the Cell, 2012, 23 (20), pp.4054-4064. ⟨10.1091/mbc.E12-01-0001⟩ Article dans une revue hal-02378754v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A Homozygous Missense Variant in PPP1R1B/DARPP‐32 Is Associated With Generalized Complex Dystonia Amjad Khan , Anne Molitor , Sylvain Mayeur , Gaoqun Zhang , Bruno Rinaldi , et al. Movement Disorders, 2022, 37 (2), pp.365-374. ⟨10.1002/mds.28861⟩ Article dans une revue hal-03509022v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140 Véronique Geoffroy , Corinne Stoetzel , Sophie Scheidecker , Elise Schaefer , Isabelle Perrault , et al. Human Mutation, 2018, 39 (7), pp.983-992. ⟨10.1002/humu.23539⟩ Article dans une revue hal-03932214v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		WD40-repeat 47 is essential for brain development via microtubule-mediated processes and autophagy Binnaz Yalcin , Meghna Kannan , Christel Wagner , Marna Roos , Bruno Rinaldi , et al. 51st European Society of Human Genetics (ESHG) Conference, May 2017, Milano, Italy. pp.111 Communication dans un congrès hal-02378786v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Cex1 is a component of the COPI intracellular trafficking machinery Ludovic Enkler , Bruno Rinaldi , Johan Owen de Craene , Philippe Hammann , Osamu Nureki , et al. Biology Open, 2021, 10 (3), pp.bio058528. ⟨10.1242/bio.058528⟩ Article dans une revue hal-03288818v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Cex1 is a new component of the COPIb trans-Golgi-to-vacuole intracellular trafficking machinery Ludovic Enkler , O.J. de Craene , Bruno Rinaldi , Philippe Hammann , Osamu Nureki , et al. BioRxiv, 2018 Article dans une revue hal-02918644v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The Saccharomyces cerevisiae flavodoxin-like proteins Ycp4 and Rfs1 play a role in stress response and in the regulation of genes related to metabolism Fernando Cardona , Helena Orozco , Sylvie Friant , Agustín Aranda , Marcel·lí del Olmo Archives of Microbiology, 2011, 193 (7), pp.515-525. ⟨10.1007/s00203-011-0696-7⟩ Article dans une revue hal-02378757v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy Sophie Scheidecker , Séverine Bär , Corinne Stoetzel , Véronique Geoffroy , Béatrice Lannes , et al. Human Mutation, 2019, 40 (10), pp.1826-1840. ⟨10.1002/humu.23799⟩ Article dans une revue hal-02164041v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Assigning mitochondrial localization of dual localized proteins using a yeast Bi-Genomic Mitochondrial-Split-GFP Gaétan Bader , Ludovic Enkler , Yuhei Araiso , Marine Hemmerle , Krystyna Binko , et al. eLife, 2020, 9, ⟨10.7554/eLife.56649⟩ Article dans une revue hal-02898815v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Ent5p is required with Ent3p and Vps27p for ubiquitin-dependent protein sorting into the multivesicular body. Anne Eugster , Eve-Isabelle Pécheur , Fabrice Michel , Barbara Winsor , François Letourneur , et al. Molecular Biology of the Cell, 2004, 15 (7), pp.3031-41. ⟨10.1091/mbc.E03-11-0793⟩ Article dans une revue hal-00153222v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation and hyperinflammation Running title: NCKAP1L deficiency Carla Noemi Castro , Michelle Rosenzwajg , Raphael Carapito , Mohammad Shahrooei , Martina Konantz , et al. Journal of Experimental Medicine, 2020, ⟨10.1084/jem.20192275⟩ Article dans une revue hal-03024718v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress Ariane Kröll-Hermi , Frédéric Ebstein , Corinne Stoetzel , Véronique Geoffroy , Elise Schaefer , et al. EMBO Molecular Medicine, 2020, 12 (7), ⟨10.15252/emmm.201911861⟩ Article dans une revue hal-02903912v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy Meghna Kannan , Efil Bayam , Christel Wagner , Bruno Rinaldi , Perrine Kretz , et al. Proceedings of the National Academy of Sciences of the United States of America, 2017, 114 (44), pp.E9308-E9317. ⟨10.1073/pnas.1713625114⟩ Article dans une revue hal-02378716v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Phosphoinositides: lipidic essential actors in the intracellular traffic. Dimitri Bertazzi , Johan-Owen de Craene , Séverine Bär , Myriam Sanjuan-Vazquez , Matthieu A Raess , et al. Biologie Aujourd'hui, 2015, 209 (1), pp.97-109. ⟨10.1051/jbio/2015006⟩ Article dans une revue istex hal-01771798v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Btn3 regulates the endosomal sorting function of the yeast Ent3 epsin, an adaptor for SNARE proteins Joëlle Morvan , Johan-Owen de Craene , Bruno Rinaldi , Vanessa Addis , Cédric Misslin , et al. Journal of Cell Science, 2015, 128 (4), pp.706 - 716. ⟨10.1242/jcs.159699⟩ Article dans une revue hal-01771801v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Membrane Trafficking in the Yeast Saccharomyces cerevisiae Model Serge Feyder , Johan-Owen de Craene , Séverine Bär , Dimitri Bertazzi , Sylvie Friant International Journal of Molecular Sciences, 2015, 16 (1), pp.1509 - 1525. ⟨10.3390/ijms16011509⟩ Article dans une revue hal-01771802v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice. Leonela Amoasii , Dimitri L. Bertazzi , Hélène Tronchère , Karim Hnia , Gaëtan Chicanne , et al. PLoS Genetics, 2012, 8 (10), pp.e1002965. ⟨10.1371/journal.pgen.1002965⟩ Article dans une revue inserm-01011824v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		MYH10 heterozygous variants cause a dominant phenotype associating coloboma and ptosis reminiscent of the Baraitser-Winter syndrome spectrum Helene Dollfus , Séverine Bär , Ariane Kröll-Hermi , Anita Korpioja , Clarisse Delvallée , et al. ARVO Annual Meeting, Apr 2023, New Orleans, United States. pp.4531 Communication dans un congrès hal-04235130v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More

Filtrer vos résultats

WANTED – Dead or alive: Myotubularins, a large disease-associated protein family

Phosphoinositides, Major Actors in Membrane Trafficking and Lipid Signaling Pathways

Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia

Myotubularin MTM1 Involved in Centronuclear Myopathy and its Roles in Human and Yeast Cells

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

Expanding the phenotypic spectrum in neurological disorders associated with mutations in KARS gene (lysyl-tRNA synthetase) by the identification of a novel mutation

Lsb1 Is a Negative Regulator of Las17 Dependent Actin Polymerization Involved in Endocytosis

A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta

Yeast as a Model to Understand Actin-Mediated Cellular Functions in Mammals—Illustrated with Four Actin Cytoskeleton Proteins

Evolutionary analysis of the ENTH/ANTH/VHS protein superfamily reveals a coevolution between membrane trafficking and metabolism.

A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi

Increased ubiquitin-dependent degradation can replace the essential requirement for heat shock protein induction.

Pkh1/2-dependent phosphorylation of Vps27 regulates ESCRT-I recruitment to endosomes

A Homozygous Missense Variant in PPP1R1B/DARPP‐32 Is Associated With Generalized Complex Dystonia

Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140

WD40-repeat 47 is essential for brain development via microtubule-mediated processes and autophagy

Cex1 is a component of the COPI intracellular trafficking machinery

Cex1 is a new component of the COPIb trans-Golgi-to-vacuole intracellular trafficking machinery

The Saccharomyces cerevisiae flavodoxin-like proteins Ycp4 and Rfs1 play a role in stress response and in the regulation of genes related to metabolism

Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy

Assigning mitochondrial localization of dual localized proteins using a yeast Bi-Genomic Mitochondrial-Split-GFP

Ent5p is required with Ent3p and Vps27p for ubiquitin-dependent protein sorting into the multivesicular body.

NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation and hyperinflammation Running title: NCKAP1L deficiency

Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy

Phosphoinositides: lipidic essential actors in the intracellular traffic.

Btn3 regulates the endosomal sorting function of the yeast Ent3 epsin, an adaptor for SNARE proteins

Membrane Trafficking in the Yeast Saccharomyces cerevisiae Model

Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice.

MYH10 heterozygous variants cause a dominant phenotype associating coloboma and ptosis reminiscent of the Baraitser-Winter syndrome spectrum