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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.
Afiliación
  • Festa BP; Institute of Physiology, University of Zurich, Zurich, Switzerland.
  • Berquez M; Institute of Physiology, University of Zurich, Zurich, Switzerland.
  • Gassama A; Institute of Physiology, University of Zurich, Zurich, Switzerland.
  • Amrein I; Division of Functional Neuroanatomy, Institute of Anatomy, University of Zurich, Zurich, Switzerland.
  • Ismail HM; Department of Health Sciences and Technology, ETH Zurich, Institute of Human Movement Sciences and Sport, Zurich, Switzerland.
  • Samardzija M; Neuroscience Center Zurich, University of Zurich, Zurich, Switzerland.
  • Staiano L; School of Pharmaceutical Sciences, University of Geneva, Rue Michel-Servet 1, Geneva, Switzerland.
  • Luciani A; Lab for Retinal Cell Biology, Department of Ophthalmology, University Hospital Zurich, University of Zurich, Zurich, Switzerland.
  • Grimm C; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
  • Nussbaum RL; Institute of Physiology, University of Zurich, Zurich, Switzerland.
  • De Matteis MA; Neuroscience Center Zurich, University of Zurich, Zurich, Switzerland.
  • Dorchies OM; Lab for Retinal Cell Biology, Department of Ophthalmology, University Hospital Zurich, University of Zurich, Zurich, Switzerland.
  • Scapozza L; Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland.
  • Wolfer DP; Department of Medicine and Institute of Human Genetics, University of California, San Francisco, CA, USA.
  • Devuyst O; Invitae Corporation, San Francisco, CA, USA.
Hum Mol Genet ; 28(12): 1931-1946, 2019 06 15.
Article en En | MEDLINE | ID: mdl-30590522
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Endosomas / Monoéster Fosfórico Hidrolasas / Enfermedad de Dent / Túbulos Renales Proximales / Lisosomas / Síndrome Oculocerebrorrenal Límite: Animals / Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Suiza
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Endosomas / Monoéster Fosfórico Hidrolasas / Enfermedad de Dent / Túbulos Renales Proximales / Lisosomas / Síndrome Oculocerebrorrenal Límite: Animals / Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Suiza