Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Alkaly Gassama"'
Autor:
Natsuko Tokonami, Susan Ghazi, Alkaly Gassama, Evgenia Platonova, Marcello Polesel, Urs Ziegler, Andrew M. Hall, Milica Bugarski, Olivier Devuyst, Claus-Dieter Schuh, Dominik Haenni
Publikováno v:
Journal of the American Society of Nephrology. 29:2696-2712
Background The kidney proximal convoluted tubule (PCT) reabsorbs filtered macromolecules via receptor-mediated endocytosis (RME) or nonspecific fluid phase endocytosis (FPE); endocytosis is also an entry route for disease-causing toxins. PCT cells ex
Autor:
Huguette Debaix, Hendrica Belge, Alkaly Gassama, Sarah S. Gabriel, Olivier Devuyst, Thomas Fehr, Alessandro Luciani
Publikováno v:
Kidney International. 91:842-855
Dent disease is a rare X-linked tubulopathy caused by mutations in the endosomal chloride-proton exchanger (ClC-5) resulting in defective receptor-mediated endocytosis and severe proximal tubule dysfunction. Bone marrow transplantation has recently b
Autor:
Alessandro Luciani, Marijana Samardzija, Leopoldo Staiano, Alkaly Gassama, Marine Berquez, Hesham M. Ismail, Christian Grimm, Robert L. Nussbaum, Maria Antonietta De Matteis, Olivier Devuyst, Beatrice Paola Festa, Irmgard Amrein, Olivier M. Dorchies, David P. Wolfer, Leonardo Scapozza
Publikováno v:
Human Molecular Genetics, 28 (12)
Human Molecular Genetics
Hum Mol Genet
Human Molecular Genetics
Hum Mol Genet
Mutations in OCRL encoding the inositol polyphosphate 5-phosphatase OCRL (Lowe oculocerebrorenal syndrome protein) disrupt phosphoinositide homeostasis along the endolysosomal pathway causing dysfunction of the cells lining the kidney proximal tubule