A Missense Change in the ATG4D Gene Links Aberrant Autophagy to a Neurodegenerative Vacuolar Storage Disease
RESEARCH ARTICLE A Missense Change in the ATG4D Gene Links Aberrant Autophagy to a Neurodegenerative Vacuolar Storage Disease Kaisa Kyöstilä1,2,3, Pernilla Syrjä1‡, Vidhya Jagannathan4‡, Gayathri Chandrasekar5, Tarja S. Jokinen6, Eija H. Seppälä1,2,3, Doreen Becker4, Michaela Drögemüller4, Elisabeth Dietschi4, Cord Drögemüller4, Johann Lang7, Frank Steffen8, Cecilia Rohdin9, Karin H. Jäderlund10, Anu K. Lappalainen6, Kerstin Hahn11, Peter Wohlsein11, Wolfgang Baumgärtner11, Diana Henke12, Anna Oevermann12, Juha Kere2,3,5,13, ‡ ‡ a11111 Hannes Lohi1,2,3 *, Tosso Leeb4 1 Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland, 2 Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland, 3 Department of Molecular Genetics, Folkhälsan Institute of Genetics, Helsinki, Finland, 4 Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland, 5 Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden, 6 Department of Equine and Small Animal Medicine, University of Helsinki, Helsinki, Finland, 7 Department of Clinical Veterinary Medicine, Division of Clinical Radiology, Vetsuisse Faculty, University of Bern, Bern, Switzerland, 8 Neurology Service, Department of Small Animals, Vetsuisse Faculty, University of OPEN ACCESS Zurich, Zurich, Switzerland, 9 University Animal Hospital, Swedish University of Agricultural Sciences, Uppsala, Sweden, 10 Department of Companion Animal Clinical Sciences, Norwegian University of Life Citation: Kyöstilä K, Syrjä P, Jagannathan V, Sciences, Oslo, Norway, 11 Department of Pathology, University of Veterinary Medicine Hannover, Chandrasekar G, Jokinen TS, Seppälä EH, et al. Hannover, Germany, 12 Division of Neurological Sciences, Vetsuisse Faculty, University of Bern, Bern, ATG4D (2015) A Missense Change in the Gene Links Switzerland, 13 Science for Life Laboratory, Karolinska Institutet, Solna, Sweden Aberrant Autophagy to a Neurodegenerative Vacuolar Storage Disease.
[Show full text]