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OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease

Festa, Beatrice Paola, Berquez, Marine, Gassama, Alkaly, Amrein, Irmgard, Ismail, Hesham M, Samardzija, Marijana, Staiano, Leopoldo, Luciani, Alessandro, Grimm, Christian, Nussbaum, Robert L, De Matteis, Maria Antonietta, Dorchies, Olivier M, Scapozza, Leonardo, Wolfer, David Paul, Devuyst, Olivier·2019·Human Molecular Genetics
DOI 10.1093/hmg/ddy449PMC PMC6548226
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Research works printed but not linked: 56

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Metadata

Authors
Festa, B. P., Berquez, M., Gassama, A., Amrein, I., Ismail, H. M., Samardzija, M., Staiano, L., Luciani, A., Grimm, C., Nussbaum, R. L., De Matteis, M. A., Dorchies, O. M., Scapozza, L., Wolfer, D. P., & Devuyst, O.
Affiliations
  • Institute of Physiology, University of Zurich, Zurich, Switzerland
  • Division of Functional Neuroanatomy, Institute of Anatomy, University of Zurich, Zurich, Switzerland
  • School of Pharmaceutical Sciences, University of Geneva, Rue Michel-Servet 1, Geneva, Switzerland
  • Lab for Retinal Cell Biology, Department of Ophthalmology, University Hospital Zurich, University of Zurich, Zurich, Switzerland
  • Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy
  • Neuroscience Center Zurich, University of Zurich, Zurich, Switzerland
  • Department of Medicine and Institute of Human Genetics, University of California, San Francisco, CA, USA
Venue
Human Molecular Genetics
Publisher
Oxford University Press (OUP)
Published
2018-12-26
Volume
28
Issue
12
ISSN
  • 0964-6906
  • 1460-2083
DOI
10.1093/hmg/ddy449
PMC
PMC6548226
Cited by
58
References
1
Language
en
Licence
creativecommons.org/licenses/by-nc/4.0/ (vor)
Funders
  • Rare Disease Initiative Zurich
  • Fondation Suisse de Recherche sur les Maladies Musculaires
  • Swiss National Centre of Competence in Research Kidney Control of Homeostasis
  • RADIZ
  • Swiss National Science Foundation (31003A-169850)
  • Cystinosis Research Foundation

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