O
Olivier Gribouval
Researcher at Paris Descartes University
Publications - 68
Citations - 6693
Olivier Gribouval is an academic researcher from Paris Descartes University. The author has contributed to research in topics: Nephrotic syndrome & Focal segmental glomerulosclerosis. The author has an hindex of 32, co-authored 63 publications receiving 5991 citations. Previous affiliations of Olivier Gribouval include Necker-Enfants Malades Hospital & University of Paris.
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Journal ArticleDOI
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome
Nicolas Boute,Olivier Gribouval,Séverine Roselli,Hyunjoo Jean Lee,Arno Fuchshuber,Karin Dahan,Marie-Claire Gubler,Patrick Niaudet,Corinne Antignac +8 more
TL;DR: It is found that ten different NPHS2 mutations, comprising nonsense, frameshift and missense mutations, to segregate with the disease, demonstrating a crucial role for podocin in the function of the glomerular filtration barrier.
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A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis
Margaret M. Town,Geneviève Jean,Stephanie Cherqui,M. Attard,Lionel Forestier,S.A. Whitmore,David F. Callen,Olivier Gribouval,Michel Broyer,Gillian P. Bates,W. van't Hoff,Corinne Antignac +11 more
TL;DR: A novel gene, CTNS, which mapped to the deletion interval is identified, which encodes an integral membrane protein, cystinosin, with features of a lysosomal membrane protein.
Journal ArticleDOI
Structure of the Gene for Congenital Nephrotic Syndrome of the Finnish Type (NPHS1) and Characterization of Mutations
Ulla Lenkkeri,Minna Männikkö,Paula McCready,Jane Lamerdin,Olivier Gribouval,Patrick Niaudet,Corinne Antignac,Clifford E. Kashtan,Christer Holmberg,Anne S. Olsen,Marjo Kestilä,Karl Tryggvason,Karl Tryggvason +12 more
TL;DR: The genomic structure of the nephrin gene was analyzed, and 35 NPHS1 patients were screened for the presence of mutations; a total of 32 novel mutations were found; and two common polymorphisms were found.
Journal ArticleDOI
NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.
Stefanie Weber,Olivier Gribouval,Ernie L. Esquivel,Vincent Morinière,Marie Josèphe Tête,Christophe Legendre,Patrick Niaudet,Corinne Antignac +7 more
TL;DR: Patients with two pathogenic NPHS2 mutations present with early-onset SRNS and very low incidence of post-transplantation recurrence, and heterozygous NPHS1 variants may play a role in atypical cases with mild, late-ONSet course, and recurrence after transplantation.
Journal ArticleDOI
Podocin localizes in the kidney to the slit diaphragm area.
Séverine Roselli,Olivier Gribouval,Nicolas Boute,Mireille Sich,T Attié,Marie-Claire Gubler,Corinne Antignac +6 more
TL;DR: In situ hybridization and electron microscopy demonstrate that podocin is facing the slit diaphragm with its two ends in the cytoplasm of the foot processes, in agreement with its predicted structure, suggesting thatpodocin could serve to anchor directly or indirectly components of the slitdiaphragms to the cytoskeleton.