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

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Authors: Festa BP, Berquez M, Gassama A, Amrein I, Ismail HM, Samardzija M, Staiano L, Luciani A, Grimm C, Nussbaum RL, De Matteis MA, Dorchies OM, Scapozza L, Wolfer DP, Devuyst O.

Journal title: Hum Mol Genet

Journal number: 09646906

Journal publisher: Oxford University Press

Published year: 2019

DOI identifier: 10.1093/hmg/ddy449

ISSN: 0964-6906