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Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency.
Nitschke, Silvia; Sullivan, Mitchell A; Mitra, Sharmistha; Marchioni, Charlotte R; Lee, Jennifer P Y; Smith, Brandon H; Ahonen, Saija; Wu, Jun; Chown, Erin E; Wang, Peixiang; Petkovic, Sara; Zhao, Xiaochu; DiGiovanni, Laura F; Perri, Ami M; Israelian, Lori; Grossman, Tamar R; Kordasiewicz, Holly; Vilaplana, Francisco; Iwai, Kazuhiro; Nitschke, Felix; Minassian, Berge A.
Afiliação
  • Nitschke S; Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada.
  • Sullivan MA; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
  • Mitra S; Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada.
  • Marchioni CR; Glycation and Diabetes Complications, Mater Research Institute-The University of Queensland, Translational Research Institute, Brisbane, QLD, 4102, Australia.
  • Lee JPY; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
  • Smith BH; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
  • Ahonen S; Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada.
  • Wu J; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
  • Chown EE; Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada.
  • Wang P; Division of Neurology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
  • Petkovic S; Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada.
  • Zhao X; Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada.
  • DiGiovanni LF; Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada.
  • Perri AM; Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada.
  • Israelian L; Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada.
  • Grossman TR; Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada.
  • Kordasiewicz H; Program in Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON M5G 0A4, Canada.
  • Vilaplana F; Department of Antisense Drug Discovery, Ionis Pharmaceuticals, Carlsbad, California, USA.
  • Iwai K; Department of Antisense Drug Discovery, Ionis Pharmaceuticals, Carlsbad, California, USA.
  • Nitschke F; Division of Glycoscience, Department of Chemistry, KTH Royal Institute of Technology, AlbaNova University Centre, Stockholm 10691, Sweden.
  • Minassian BA; Department of Molecular and Cellular Physiology, Kyoto University School of Medicine, Kyoto 606-8501, Japan.
Brain ; 145(7): 2361-2377, 2022 07 29.
Article em En | MEDLINE | ID: mdl-35084461

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Depósito de Glicogênio Tipo IV / Doença de Lafora / Ubiquitina-Proteína Ligases Tipo de estudo: Prognostic_studies Limite: Animals Idioma: En Revista: Brain Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Canadá

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Depósito de Glicogênio Tipo IV / Doença de Lafora / Ubiquitina-Proteína Ligases Tipo de estudo: Prognostic_studies Limite: Animals Idioma: En Revista: Brain Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Canadá