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Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147.
Stäubli, Andrina; Capatina, Nadejda; Fuhrer, Yvonne; Munier, Francis L; Labs, Stephan; Schorderet, Daniel F; Tiwari, Amit; Verrey, Francois; Heon, Elise; Cheng, Ching-Yu; Wong, Tien-Yin; Berger, Wolfgang; Camargo, Simone M R; Kloeckener-Gruissem, Barbara.
Afiliação
  • Stäubli A; Institute of Medical Molecular Genetics, University Zurich, Zurich, Switzerland.
  • Capatina N; Department of Biology, ETH, Zurich, Switzerland.
  • Fuhrer Y; Institute of Medical Molecular Genetics, University Zurich, Zurich, Switzerland.
  • Munier FL; Institute of Medical Molecular Genetics, University Zurich, Zurich, Switzerland.
  • Labs S; Jules-Gonin Eye Hospital, University Lausanne, Lausanne, Switzerland.
  • Schorderet DF; Institute of Medical Molecular Genetics, University Zurich, Zurich, Switzerland.
  • Tiwari A; Faculty of Life Sciences, Ecole Polytechnique Fédérale de Lausanne, Institute for Research in Ophthalmology, Sion, Lausanne, Switzerland.
  • Verrey F; Department of Ophthalmology, University of Lausanne, Lausanne, Switzerland.
  • Heon E; Institute of Medical Molecular Genetics, University Zurich, Zurich, Switzerland.
  • Cheng CY; Institute of Physiology.
  • Wong TY; Zurich Center for Integrative Human Physiology (ZIHP), University of Zurich, Zurich, Switzerland.
  • Berger W; Department of Ophthalmology and Vision Sciences, Hospital for Sick Children, Toronto, Canada.
  • Camargo SMR; Singapore National Eye Centre, Singapore Eye Research Institute, Singapore, Singapore.
  • Kloeckener-Gruissem B; Ophthalmology & Visual Sciences Academic Clinical Program (Eye ACP), Duke-NUS Medical School, Singapore, Singapore.
Hum Mol Genet ; 26(21): 4203-4214, 2017 11 01.
Article em En | MEDLINE | ID: mdl-29088427
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Membrana Transportadoras / Catarata / Transportadores de Ácidos Monocarboxílicos / Basigina Idioma: En Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Suíça
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Membrana Transportadoras / Catarata / Transportadores de Ácidos Monocarboxílicos / Basigina Idioma: En Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Suíça