Bi‐allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis‐like disease

EMBO Molecular Medicine

Emma Samuelsson¹  Lotta Agholme²  Leslie E Sanderson³  Tahsin Stefan Barakat³  Tjakko van Ham³  Jorge Asin Cayuela⁴  Maria Blomqvist⁴  Fredrik H Sterky⁵  Debora Kaminski⁵  Laia Montoliu‐Gaya⁶  Kalliopi Sofou⁷  Niklas Darin⁷  Chris Mühlhausen⁸  Lars Schlotawa⁸  Jutta Gärtner⁸  Kolja Meier⁸ 

[1] Department of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg, Sweden;Department of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg, Sweden;Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden;Department of Clinical Genetics, Erasmus University Medical Center Rotterdam, Rotterdam, The Netherlands;Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden;Department of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg, Sweden;Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden;Department of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg, Sweden;Wallenberg Centre for Molecular and Translational Medicine, University of Gothenburg, Gothenburg, Sweden;Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden;Wallenberg Centre for Molecular and Translational Medicine, University of Gothenburg, Gothenburg, Sweden;Department of Paediatrics, Institute of Clinical Sciences, University of Gothenburg, Gothenburg, Sweden;Department of Pediatrics and Adolescent Medicine, University Medical Center Goettingen, Goettingen, Germany;

关键词: autophagy;    endosome;    lysosomal storage disease;    MPS;    myelination;   

DOI  :  10.15252/emmm.202013376

来源: Wiley

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