A Missense Change in the ATG4D Gene Links Aberrant Autophagy to a Neurodegenerative Vacuolar Storage Disease

• Kaisa Kyöstilä,

  Affiliations 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

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• Pernilla Syrjä ,

  ¶‡ PS and VJ contributed equally to this work. HL and TL also contributed equally to this work.

  Affiliation Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland

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• Vidhya Jagannathan ,

  ¶‡ PS and VJ contributed equally to this work. HL and TL also contributed equally to this work.

  Affiliation Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland

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• Gayathri Chandrasekar,

  Affiliation Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden

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• Tarja S. Jokinen,

  Affiliation Department of Equine and Small Animal Medicine, University of Helsinki, Helsinki, Finland

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• Eija H. Seppälä,

  Affiliations 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

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• Doreen Becker,

  Affiliation Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland

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• Michaela Drögemüller,

  Affiliation Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland

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• Elisabeth Dietschi,

  Affiliation Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland

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• Cord Drögemüller,

  Affiliation Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland

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• Johann Lang,

  Affiliation Department of Clinical Veterinary Medicine, Division of Clinical Radiology, Vetsuisse Faculty, University of Bern, Bern, Switzerland

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• Frank Steffen,

  Affiliation Neurology Service, Department of Small Animals, Vetsuisse Faculty, University of Zurich, Zurich, Switzerland

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• Cecilia Rohdin,

  Affiliation University Animal Hospital, Swedish University of Agricultural Sciences, Uppsala, Sweden

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• Karin H. Jäderlund,

  Affiliation Department of Companion Animal Clinical Sciences, Norwegian University of Life Sciences, Oslo, Norway

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• Anu K. Lappalainen,

  Affiliation Department of Equine and Small Animal Medicine, University of Helsinki, Helsinki, Finland

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• Kerstin Hahn,

  Affiliation Department of Pathology, University of Veterinary Medicine Hannover, Hannover, Germany

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• Peter Wohlsein,

  Affiliation Department of Pathology, University of Veterinary Medicine Hannover, Hannover, Germany

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• Wolfgang Baumgärtner,

  Affiliation Department of Pathology, University of Veterinary Medicine Hannover, Hannover, Germany

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• Diana Henke,

  Affiliation Division of Neurological Sciences, Vetsuisse Faculty, University of Bern, Bern, Switzerland

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• Anna Oevermann,

  Affiliation Division of Neurological Sciences, Vetsuisse Faculty, University of Bern, Bern, Switzerland

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• Juha Kere,

  Affiliations 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 Institutet, Solna, Sweden

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• Hannes Lohi ,

  * E-mail: Hannes.Lohi@helsinki.fi

  ¶‡ PS and VJ contributed equally to this work. HL and TL also contributed equally to this work.

  Affiliations 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

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•  [ ... ],
• Tosso Leeb

  ¶‡ PS and VJ contributed equally to this work. HL and TL also contributed equally to this work.

  Affiliation Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland

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