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BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease.
Rebelo, Adriana P; Ruiz, Ariel; Dohrn, Maike F; Wayand, Melanie; Farooq, Amjad; Danzi, Matt C; Beijer, Danique; Aaron, Brooke; Vandrovcova, Jana; Houlden, Henry; Matalonga, Leslie; Abreu, Lisa; Rouleau, Guy; Estiar, Mehrdad A; Van de Vondel, Liedewei; Gan-Or, Ziv; Baets, Jonathan; Schüle, Rebecca; Zuchner, Stephan.
Afiliação
  • Rebelo AP; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL.
  • Ruiz A; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL.
  • Dohrn MF; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL; Department of Neurology, Medical Faculty RWTH Aachen University, Aachen, Germany.
  • Wayand M; Hertie Institute for Clinical Brain Research (HIH), Center of Neurology, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany.
  • Farooq A; Department of Biochemistry and Molecular Biology, Miller School of Medicine, University of Miami, Miami, FL.
  • Danzi MC; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL.
  • Beijer D; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL.
  • Aaron B; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL.
  • Vandrovcova J; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.
  • Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.
  • Matalonga L; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.
  • Abreu L; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL.
  • Rouleau G; Department of Human Genetics, Faculty of Medicine and Health Sciences, McGill University, Montreal, Quebec, Canada; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada; Department of Neurology and Neurosurgery, Faculty of Medicine and Health Sciences, Mc
  • Estiar MA; Department of Human Genetics, Faculty of Medicine and Health Sciences, McGill University, Montreal, Quebec, Canada; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada; Department of Neurology and Neurosurgery, Faculty of Medicine and Health Sciences, Mc
  • Van de Vondel L; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.
  • Gan-Or Z; Department of Human Genetics, Faculty of Medicine and Health Sciences, McGill University, Montreal, Quebec, Canada; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada; Department of Neurology and Neurosurgery, Faculty of Medicine and Health Sciences, Mc
  • Baets J; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium; Neuromuscular Reference Center, Antwerp University Hospital and Faculty of Medicine University of Antwerp, Antwerp, Belgium.
  • Schüle R; Hertie Institute for Clinical Brain Research (HIH), Center of Neurology, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany.
  • Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL. Electronic address: szuchner@med.miami.edu.
Genet Med ; 24(12): 2487-2500, 2022 12.
Article em En | MEDLINE | ID: mdl-36136088
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença dos Neurônios Motores / Doenças Neurodegenerativas Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença dos Neurônios Motores / Doenças Neurodegenerativas Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article