Séverine Bär

Centre National de la Recherche Scientifique — France

Biochemistry, Genetics and Molecular Biology · Life Sciences

17h-index1.1kcitations35works1.32yr avg
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Research Topics

Virus-based gene therapy research(5), Cellular transport and secretion(5), HIV Research and Treatment(4), Genetic and Kidney Cyst Diseases(4), Microtubule and mitosis dynamics(3)

Publications35 total

Galectin-3 Mediated Endocytosis of the Orphan G-Protein-Coupled Receptor GPRC5A
Cells·2025· 1 citedOpen Access
Galectin-3 Mediated Endocytosis of the Orphan G-Protein-Coupled Receptor GPRC5A
2025Open Access
Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes
European Journal of Human Genetics·2025· 3 cited
MYH10 heterozygous variants cause a dominant phenotype associating coloboma and ptosis reminiscent of the Baraitser-Winter syndrome spectrum
SPIRE - Sciences Po Institutional REpository·2023Open Access
Proteasome subunit <i>PSMC3</i> variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress
EMBO Molecular Medicine·2020· 65 citedOpen Access
Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia
European Journal of Human Genetics·2020· 40 citedOpen Access
Proteasome subunit <i>PSMC3</i> variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress
2019· 2 citedOpen Access
Expanding the phenotypic spectrum in neurological disorders associated with mutations in KARS gene (lysyl-tRNA synthetase) by the identification of a novel mutation
HAL (Le Centre pour la Communication Scientifique Directe)·2019
A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta
Frontiers in Genetics·2019· 30 citedOpen Access
Mutations in<i>KARS</i>cause a severe neurological and neurosensory disease with optic neuropathy
Human Mutation·2019· 23 citedOpen Access
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in <i>IFT140</i>
Human Mutation·2018· 23 citedOpen Access
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy
Proceedings of the National Academy of Sciences·2017· 93 citedOpen Access
A mutation in VPS15 (PIK3R4) affects IFT20 cilia trafficking and causes a ciliopathy with early onset retinitis pigmentosa
Investigative Ophthalmology & Visual Science·2017Open Access
WD40-repeat 47 is essential for brain development via microtubule-mediated processes and autophagy
SPIRE - Sciences Po Institutional REpository·2017
Phosphoinositides, Major Actors in Membrane Trafficking and Lipid Signaling Pathways
International Journal of Molecular Sciences·2017· 191 citedOpen Access
A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi
Nature Communications·2016· 76 citedOpen Access
Nonconventional localizations of cytosolic aminoacyl-tRNA synthetases in yeast and human cells
Methods·2016· 17 citedOpen Access
Integrin α5β1 and p53 convergent pathways in the control of anti-apoptotic proteins PEA-15 and survivin in high-grade glioma
Cell Death and Differentiation·2015· 67 citedOpen Access
Yeast as a simple eukaryotic model to study human diseases linked to membrane trafficking
Cilia·2015Open Access
PKCη/Rdx-driven Phosphorylation of PDK1: A Novel Mechanism Promoting Cancer Cell Survival and Permissiveness for Parvovirus-induced Lysis
PLoS Pathogens·2015· 14 citedOpen Access
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Frequent Co-authors

Sylvie Friant(20), Corinne Stoetzel(10), Hélène Dollfus(10), Véronique Geoffroy(8), Bruno Rinaldi(7), Sophie Scheidecker(7), Jürg P. F. Nüesch(7), Élise Schaefer(7), Jean Muller(7), Johan‐Owen De Craene(6), Christelle Etard(6), Philippe Hammann(6), Jean Rommelaere(6), Johana Chicher(5), Marc Alizon(5), Uwe Strähle(4), Ariane Kröll‐Hermi(4), Lauriane Kühn(4), Jamel Chelly(3), Valérie Pelletier(3)