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المؤلفون: Klein AD; BCMB Graduate Program, Weill Cornell Medical College, New York, NY 10065.; Cell Biology Program, Memorial Sloan Kettering Cancer Center, New York, NY 10065., Petruzzi KL; Cell Biology Program, Memorial Sloan Kettering Cancer Center, New York, NY 10065., Lee C; BCMB Graduate Program, Weill Cornell Medical College, New York, NY 10065.; Cell Biology Program, Memorial Sloan Kettering Cancer Center, New York, NY 10065., Overholtzer M; BCMB Graduate Program, Weill Cornell Medical College, New York, NY 10065.; Cell Biology Program, Memorial Sloan Kettering Cancer Center, New York, NY 10065.; Gerstner Sloan Kettering Graduate School of Biomedical Sciences, Memorial Sloan Kettering Cancer Center, New York, NY 10065.

المصدر: Molecular biology of the cell [Mol Biol Cell] 2024 May 01; Vol. 35 (5), pp. ar70. Date of Electronic Publication: 2024 Mar 27.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Society for Cell Biology Country of Publication: United States NLM ID: 9201390 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1939-4586 (Electronic) Linking ISSN: 10591524 NLM ISO Abbreviation: Mol Biol Cell Subsets: MEDLINE

مواضيع طبية MeSH: Lysosomes*/metabolism , Microautophagy*, Autophagy ; Basic Helix-Loop-Helix Leucine Zipper Transcription Factors ; Intracellular Membranes/metabolism ; Ionophores ; Humans ; Cell Line, Tumor

المؤلفون: Rubilar JC; Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago 7780272, Chile., Outeiro TF; Department of Experimental Neurodegeneration, Center for Biostructural Imaging of Neurodegeneration, University Medical Center Göttingen, Göttingen, Germany.; Max Planck Institute for Natural Sciences, Göttingen, Germany.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Framlington Place, Newcastle Upon Tyne, UK.; Scientific Employee with an Honorary Contract at Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Göttingen, Germany., Klein AD; Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago 7780272, Chile.

المصدر: Brain : a journal of neurology [Brain] 2024 Mar 04. Date of Electronic Publication: 2024 Mar 04.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

المؤلفون: Klein AD; Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, 7780272, Chile. andresklein@udd.cl., Outeiro TF; Department of Experimental Neurodegeneration, Center for Biostructural Imaging of Neurodegeneration, University Medical Center Göttingen, Göttingen, Germany. tiago.outeiro@med.uni-goettingen.de.; Max Planck Institute for Natural Sciences, Göttingen, Germany. tiago.outeiro@med.uni-goettingen.de.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Framlington Place, Newcastle Upon Tyne, UK. tiago.outeiro@med.uni-goettingen.de.; Scientific Employee with an Honorary Contract at Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Göttingen, Germany. tiago.outeiro@med.uni-goettingen.de.

المصدر: Nature communications [Nat Commun] 2023 Oct 11; Vol. 14 (1), pp. 6383. Date of Electronic Publication: 2023 Oct 11.

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

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Glucosylceramidase*/genetics , Gaucher Disease*/genetics, Humans ; Mutation ; Mitochondria/genetics ; Lysosomes

المؤلفون: Las Heras M; Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, 7780272, Chile., Szenfeld B; Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, 7780272, Chile., Ballout RA; Department of Pediatrics, University of Texas Southwestern (UTSW) Medical Center and Children's Health, Dallas, TX, 75235, USA., Buratti E; Molecular Pathology Group, International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, 34149, Italy., Zanlungo S; Departamento de Gastroenterología, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, 8330033, Chile., Dardis A; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100, Udine, Italy., Klein AD; Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, 7780272, Chile. andresklein@udd.cl.

المصدر: NPJ genomic medicine [NPJ Genom Med] 2023 Aug 11; Vol. 8 (1), pp. 21. Date of Electronic Publication: 2023 Aug 11.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

المؤلفون: Durán A; Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago 7610658, Chile., Priestman DA; Department of Pharmacology, University of Oxford, Oxford OX1 3QT, UK., Las Heras M; Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago 7610658, Chile., Rebolledo-Jaramillo B; Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago 7610658, Chile., Olguín V; Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago 7610658, Chile., Calderón JF; Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago 7610658, Chile.; Research Center for the Development of Novel Therapeutic Alternatives for Alcohol Use Disorders, Santiago 7610658, Chile., Zanlungo S; Department of Gastroenterology, Faculty of Medicine, Pontificia Universidad Católica de Chile, Santiago 8330033, Chile., Gutiérrez J; Cellular Signaling and Differentiation Laboratory, School of Medical Technology, Health Sciences Faculty, Universidad San Sebastian, Santiago 7510602, Chile., Platt FM; Department of Pharmacology, University of Oxford, Oxford OX1 3QT, UK., Klein AD; Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago 7610658, Chile.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2023 Mar 03; Vol. 24 (5). Date of Electronic Publication: 2023 Mar 03.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Glycosphingolipids*/metabolism , Lysosomal Storage Diseases*/metabolism, Animals ; Mice ; Hydrolases/metabolism ; Lysosomes/metabolism

المؤلفون: Olguín V; Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago 7610658, Chile., Durán A; Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago 7610658, Chile., Las Heras M; Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago 7610658, Chile., Rubilar JC; Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago 7610658, Chile., Cubillos FA; Departamento de Biología, Santiago, Facultad de Química y Biología, Universidad de Santiago de Chile, Santiago 9170022, Chile.; Millennium Institute for Integrative Biology (iBio), Santiago 7500565, Chile., Olguín P; Program in Human Genetics, Institute of Biomedical Sciences, Biomedical Neurosciences Institute, Department of Neuroscience, Facultad de Medicina, Universidad de Chile, Santiago 8380453, Chile., Klein AD; Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago 7610658, Chile.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2022 Jul 08; Vol. 23 (14). Date of Electronic Publication: 2022 Jul 08.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Saccharomyces cerevisiae*/genetics , Translational Research, Biomedical*, Animals ; Chromosome Mapping ; Genetic Background ; Genome ; Humans ; Mice