المؤلفون: Brasell EJ; McGill University, Department of Human Genetics, Montreal, Canada., Chu LL; Research Institute of the McGill University Health Centre, Montreal, Canada., Akpa MM; Research Institute of the McGill University Health Centre, Montreal, Canada., Eshkar-Oren I; McGill University, Department of Experimental Medicine, Montreal, Canada., Alroy I; McGill University, Department of Experimental Medicine, Montreal, Canada., Corsini R; Research Institute of the McGill University Health Centre, Montreal, Canada., Gilfix BM; Research Institute of the McGill University Health Centre, Montreal, Canada., Yamanaka Y; McGill University, Department of Human Genetics, Montreal, Canada., Huertas P; McGill University, Department of Experimental Medicine, Montreal, Canada., Goodyer P; McGill University, Department of Human Genetics, Montreal, Canada.; Research Institute of the McGill University Health Centre, Montreal, Canada.; Montreal Children's Hospital, Department of Nephrology, Montreal, Canada.; Eloxx Pharmaceuticals, Inc., Waltham, United States of America.

المصدر: PloS one [PLoS One] 2019 Dec 04; Vol. 14 (12), pp. e0223954. Date of Electronic Publication: 2019 Dec 04 (Print Publication: 2019).

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Amino Acid Transport Systems, Neutral/*physiology , Aminoglycosides/*pharmacology , Cystine/*metabolism , Cystinosis/*drug therapy , Lysosomes/*metabolism, Animals ; Biological Transport ; Cystinosis/metabolism ; Cystinosis/pathology ; Female ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Transgenic ; Protein Biosynthesis

المؤلفون: Brasell EJ; Department of Human Genetics, McGill University, Montreal, Québec, Canada., Chu L; The Research Institute of the McGill University Health Centre, 1001 Decarie Boulevard, Montreal, Québec, Canada., El Kares R; The Research Institute of the McGill University Health Centre, 1001 Decarie Boulevard, Montreal, Québec, Canada., Seo JH; The Research Institute of the McGill University Health Centre, 1001 Decarie Boulevard, Montreal, Québec, Canada., Loesch R; L'Université Paris Descartes, Paris, France., Iglesias DM; Génome Québec, 630 Boulevard René-Lévesque, Montreal, Canada., Goodyer P; Department of Human Genetics, McGill University, Montreal, Québec, Canada. Paul.Goodyer@mcgill.ca.; The Research Institute of the McGill University Health Centre, 1001 Decarie Boulevard, Montreal, Québec, Canada. Paul.Goodyer@mcgill.ca.; Department of Experimental Medicine, McGill University, Montreal, Canada. Paul.Goodyer@mcgill.ca.

المصدر: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2019 May; Vol. 34 (5), pp. 873-881. Date of Electronic Publication: 2018 Nov 09.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr Nephrol Subsets: MEDLINE

مواضيع طبية MeSH: Amino Acid Transport Systems, Neutral/*genetics , Cystinosis/*drug therapy , Fibroblasts/*drug effects , Gentamicins/*pharmacology , Peptide Chain Termination, Translational/*drug effects, Codon, Nonsense ; Cystine/metabolism ; Cystinosis/genetics ; Fibroblasts/metabolism ; Genetic Vectors/genetics ; Gentamicins/therapeutic use ; HEK293 Cells ; Humans ; Peptide Chain Termination, Translational/genetics ; Plasmids/genetics ; RNA, Messenger/analysis ; Recombinant Proteins/genetics ; Transfection