Deficiency of the E3 Ubiquitin Ligase RBCK1 Causes Diffuse Brain Polyglucosan Accumulation and Neurodegeneration
Mitchell A. Sullivan, Felix Nitschke, Erin E. Chown, Laura F. DiGiovanni, Mackenzie Chown, Ami M. Perri, Sharmistha Mitra, Xiaochu Zhao, Cameron A. Ackerley, Lori Israelian, Saija Ahonen, Peixiang Wang, Berge A. Minassian
bioRxiv 277392; doi: https://doi.org/10.1101/277392