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

Author:

Festa Beatrice Paola1,Berquez Marine1,Gassama Alkaly1,Amrein Irmgard234,Ismail Hesham M5,Samardzija Marijana6,Staiano Leopoldo7,Luciani Alessandro1,Grimm Christian468,Nussbaum Robert L910,De Matteis Maria Antonietta7,Dorchies Olivier M5,Scapozza Leonardo5,Wolfer David Paul234,Devuyst Olivier1

Affiliation:

1. Institute of Physiology, University of Zurich, Zurich, Switzerland

2. Division of Functional Neuroanatomy, Institute of Anatomy, University of Zurich, Zurich, Switzerland

3. Department of Health Sciences and Technology, ETH Zurich, Institute of Human Movement Sciences and Sport, Zurich, Switzerland

4. Neuroscience Center Zurich, University of Zurich, Zurich, Switzerland

5. School of Pharmaceutical Sciences, University of Geneva, Rue Michel-Servet 1, Geneva, Switzerland

6. Lab for Retinal Cell Biology, Department of Ophthalmology, University Hospital Zurich, University of Zurich, Zurich, Switzerland

7. Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy

8. Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland

9. Department of Medicine and Institute of Human Genetics, University of California, San Francisco, CA, USA

10. Invitae Corporation, San Francisco, CA, USA

Funder

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

Cystinosis Research Foundation

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

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