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A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay.
Gotkine, Marc; de Majo, Martina; Wong, Chun Hao; Topp, Simon D; Michaelson-Cohen, Rachel; Epsztejn-Litman, Silvina; Eiges, Rachel; Y, Yossef Lerner; Kanaan, Moein; Shaked, Hagar Mor; Alahmady, Nada; Vance, Caroline; Newhouse, Stephen J; Breen, Gerome; Nishimura, Agnes L; Shaw, Christopher E; Smith, Bradley N.
Affiliation
  • Gotkine M; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK; Department of Neurology, The Agnes Ginges Center for Human Neurogenetics, Hadassah Medical Organization and Faculty of Medicine, Hebrew University of Jerusalem, Jeru
  • de Majo M; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
  • Wong CH; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
  • Topp SD; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK; United Kingdom Dementia Research Institute Centre, King's College London, London, UK.
  • Michaelson-Cohen R; Medical Genetics Institute, Department of Obstetrics & Gynecology, Shaare Zedek Medical Center affiliated with the Hebrew University School of Medicine, Jerusalem, Israel.
  • Epsztejn-Litman S; Medical Genetics Institute, Department of Obstetrics & Gynecology, Shaare Zedek Medical Center affiliated with the Hebrew University School of Medicine, Jerusalem, Israel.
  • Eiges R; Medical Genetics Institute, Department of Obstetrics & Gynecology, Shaare Zedek Medical Center affiliated with the Hebrew University School of Medicine, Jerusalem, Israel.
  • Y YL; Department of Neurology, The Agnes Ginges Center for Human Neurogenetics, Hadassah Medical Organization and Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
  • Kanaan M; Hereditary Research Laboratory, Bethlehem University, Jerusalem, Israel.
  • Shaked HM; Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Alahmady N; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK; Department of Biology, Imam Abdulrahman bin Faisal University, Dammam, Saudi Arabia.
  • Vance C; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
  • Newhouse SJ; Department of Biostatistics and Health Informatics, King's College London, London, UK.
  • Breen G; Social, Genetic & Developmental Psychiatry Centre, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.
  • Nishimura AL; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
  • Shaw CE; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK; United Kingdom Dementia Research Institute Centre, King's College London, London, UK.
  • Smith BN; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK; Stem Cell Research Laboratory, Medical Genetics Institute, Shaare Zedek Medical Center affiliated with the Hebrew University School of Medicine, Jerusalem, Israel. E
Neurobiol Aging ; 106: 351.e1-351.e6, 2021 10.
Article in En | MEDLINE | ID: mdl-34272080
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Membrane Transport Proteins / Cell Cycle Proteins / Alleles / Genetic Association Studies / Nonsense Mediated mRNA Decay / Loss of Function Mutation / Genes, Recessive / Amyotrophic Lateral Sclerosis Type of study: Etiology_studies / Prognostic_studies / Risk_factors_studies Limits: Aged / Aged80 / Female / Humans / Male / Middle aged Country/Region as subject: Asia Language: En Journal: Neurobiol Aging Year: 2021 Document type: Article Country of publication: Estados Unidos
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Membrane Transport Proteins / Cell Cycle Proteins / Alleles / Genetic Association Studies / Nonsense Mediated mRNA Decay / Loss of Function Mutation / Genes, Recessive / Amyotrophic Lateral Sclerosis Type of study: Etiology_studies / Prognostic_studies / Risk_factors_studies Limits: Aged / Aged80 / Female / Humans / Male / Middle aged Country/Region as subject: Asia Language: En Journal: Neurobiol Aging Year: 2021 Document type: Article Country of publication: Estados Unidos