Dysfunctional LAT2 Amino Acid Transporter Is Associated With Cataract in Mouse and Humans

Autor: Emilia Boiadjieva Knöpfel, Clara Vilches, Simone M. R. Camargo, Ekaitz Errasti-Murugarren, Andrina Stäubli, Clara Mayayo, Francis L. Munier, Nataliya Miroshnikova, Nadège Poncet, Alexandra Junza, Shomi S. Bhattacharya, Esther Prat, Vanita Berry, Wolfgang Berger, Elise Heon, Anthony T. Moore, Óscar Yanes, Virginia Nunes, Manuel Palacín, Francois Verrey, Barbara Kloeckener-Gruissem

Publikováno v: Frontiers in Physiology, Vol 10 (2019)

Cataract, the loss of ocular lens transparency, accounts for ∼50% of worldwide blindness and has been associated with water and solute transport dysfunction across lens cellular barriers. We show that neutral amino acid antiporter LAT2 (Slc7a8) and

Externí odkaz: https://doaj.org/article/0d94c545a0ee46fbbf4929482b25efc7

Dysfunctional LAT2 Amino Acid Transporter Is Associated With Cataract in Mouse and Humans.

Autor: Knöpfel EB; Institute of Physiology, University of Zurich, Zurich, Switzerland.; Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland.; Swiss National Centre of Competence in Research Kidney.CH, University of Zurich, Zurich, Switzerland., Vilches C; Genes, Disease and Therapy Program, Molecular Genetics Laboratory - IDIBELL, Barcelona, Spain.; U730 and U731, Centro de Investigación Biomédica en Red de Enfermedades Raras, Barcelona, Spain., Camargo SMR; Institute of Physiology, University of Zurich, Zurich, Switzerland.; Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland., Errasti-Murugarren E; U730 and U731, Centro de Investigación Biomédica en Red de Enfermedades Raras, Barcelona, Spain.; Institute for Research in Biomedicine, The Barcelona Institute of Science and Technology, Barcelona, Spain., Stäubli A; Institute of Medical Molecular Genetics, University of Zurich, Zurich, Switzerland.; Department of Biology, ETH Zurich, Zurich, Switzerland., Mayayo C; Genes, Disease and Therapy Program, Molecular Genetics Laboratory - IDIBELL, Barcelona, Spain.; Institute for Research in Biomedicine, The Barcelona Institute of Science and Technology, Barcelona, Spain., Munier FL; Jules-Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland., Miroshnikova N; Institute of Medical Molecular Genetics, University of Zurich, Zurich, Switzerland., Poncet N; Institute of Physiology, University of Zurich, Zurich, Switzerland.; Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland., Junza A; Metabolomics Platform, IISPV, Department of Electronic Engineering, Universitat Rovira i Virgili, Tarragona, Spain.; CIBER of Diabetes and Associated Metabolic Diseases (CIBERDEM), Madrid, Spain., Bhattacharya SS; Andalusian Molecular Biology and Regenerative Medicine Centre - CABIMER, Seville, Spain.; UCL Institute of Ophthalmology, London, United Kingdom., Prat E; Genes, Disease and Therapy Program, Molecular Genetics Laboratory - IDIBELL, Barcelona, Spain.; U730 and U731, Centro de Investigación Biomédica en Red de Enfermedades Raras, Barcelona, Spain.; Genetics Section, Department of Physiological Sciences, Faculty of Medicine and Health Sciences, University of Barcelona, Barcelona, Spain., Berry V; Andalusian Molecular Biology and Regenerative Medicine Centre - CABIMER, Seville, Spain., Berger W; Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland.; Institute of Medical Molecular Genetics, University of Zurich, Zurich, Switzerland.; Neuroscience Center Zurich - ZNZ, University of Zurich and ETH Zurich, Zurich, Switzerland., Heon E; Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, ON, Canada., Moore AT; Andalusian Molecular Biology and Regenerative Medicine Centre - CABIMER, Seville, Spain.; Moorfields Eye Hospital, London, United Kingdom.; Department of Ophthalmology, School of Medicine, University of California, San Francisco, San Francisco, CA, United States., Yanes Ó; Metabolomics Platform, IISPV, Department of Electronic Engineering, Universitat Rovira i Virgili, Tarragona, Spain.; CIBER of Diabetes and Associated Metabolic Diseases (CIBERDEM), Madrid, Spain., Nunes V; Genes, Disease and Therapy Program, Molecular Genetics Laboratory - IDIBELL, Barcelona, Spain.; U730 and U731, Centro de Investigación Biomédica en Red de Enfermedades Raras, Barcelona, Spain.; Genetics Section, Department of Physiological Sciences, Faculty of Medicine and Health Sciences, University of Barcelona, Barcelona, Spain., Palacín M; U730 and U731, Centro de Investigación Biomédica en Red de Enfermedades Raras, Barcelona, Spain.; Institute for Research in Biomedicine, The Barcelona Institute of Science and Technology, Barcelona, Spain.; Departament de Bioquímica i Biomedicina Molecular, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain., Verrey F; Institute of Physiology, University of Zurich, Zurich, Switzerland.; Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland.; Swiss National Centre of Competence in Research Kidney.CH, University of Zurich, Zurich, Switzerland., Kloeckener-Gruissem B; Institute of Medical Molecular Genetics, University of Zurich, Zurich, Switzerland.; Department of Biology, ETH Zurich, Zurich, Switzerland.

Publikováno v: Frontiers in physiology [Front Physiol] 2019 Jun 04; Vol. 10, pp. 688. Date of Electronic Publication: 2019 Jun 04 (Print Publication: 2019).