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A missense change in the ATG4D gene links aberrant autophagy to a neurodegenerative vacuolar storage disease.
Kyöstilä, Kaisa; Syrjä, Pernilla; Jagannathan, Vidhya; Chandrasekar, Gayathri; Jokinen, Tarja S; Seppälä, Eija H; Becker, Doreen; Drögemüller, Michaela; Dietschi, Elisabeth; Drögemüller, Cord; Lang, Johann; Steffen, Frank; Rohdin, Cecilia; Jäderlund, Karin H; Lappalainen, Anu K; Hahn, Kerstin; Wohlsein, Peter; Baumgärtner, Wolfgang; Henke, Diana; Oevermann, Anna; Kere, Juha; Lohi, Hannes; Leeb, Tosso.
Afiliación
  • Kyöstilä K; Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland; Department of Molecular Genetics, Folkhälsan Institute of Genetics, Helsinki, Finland.
  • Syrjä P; Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland.
  • Jagannathan V; Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
  • Chandrasekar G; Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden.
  • Jokinen TS; Department of Equine and Small Animal Medicine, University of Helsinki, Helsinki, Finland.
  • Seppälä EH; Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland; Department of Molecular Genetics, Folkhälsan Institute of Genetics, Helsinki, Finland.
  • Becker D; Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
  • Drögemüller M; Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
  • Dietschi E; Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
  • Drögemüller C; Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
  • Lang J; Department of Clinical Veterinary Medicine, Division of Clinical Radiology, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
  • Steffen F; Neurology Service, Department of Small Animals, Vetsuisse Faculty, University of Zurich, Zurich, Switzerland.
  • Rohdin C; University Animal Hospital, Swedish University of Agricultural Sciences, Uppsala, Sweden.
  • Jäderlund KH; Department of Companion Animal Clinical Sciences, Norwegian University of Life Sciences, Oslo, Norway.
  • Lappalainen AK; Department of Equine and Small Animal Medicine, University of Helsinki, Helsinki, Finland.
  • Hahn K; Department of Pathology, University of Veterinary Medicine Hannover, Hannover, Germany.
  • Wohlsein P; Department of Pathology, University of Veterinary Medicine Hannover, Hannover, Germany.
  • Baumgärtner W; Department of Pathology, University of Veterinary Medicine Hannover, Hannover, Germany.
  • Henke D; Division of Neurological Sciences, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
  • Oevermann A; Division of Neurological Sciences, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
  • Kere J; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland; Department of Molecular Genetics, Folkhälsan Institute of Genetics, Helsinki, Finland; Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden; Science for Life Laboratory, Karolinska Ins
  • Lohi H; Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland; Department of Molecular Genetics, Folkhälsan Institute of Genetics, Helsinki, Finland.
  • Leeb T; Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
PLoS Genet ; 11(4): e1005169, 2015 Apr.
Article en En | MEDLINE | ID: mdl-25875846
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Autofagia / Vacuolas / Cisteína Endopeptidasas / Enfermedades Neurodegenerativas / Mutación Missense Límite: Animals Idioma: En Revista: PLoS Genet Asunto de la revista: GENETICA Año: 2015 Tipo del documento: Article País de afiliación: Finlandia
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Autofagia / Vacuolas / Cisteína Endopeptidasas / Enfermedades Neurodegenerativas / Mutación Missense Límite: Animals Idioma: En Revista: PLoS Genet Asunto de la revista: GENETICA Año: 2015 Tipo del documento: Article País de afiliación: Finlandia