Deficiency of the E3 Ubiquitin Ligase RBCK1 Causes Diffuse Brain Polyglucosan Accumulation and Neurodegeneration
Mitchell Anthony Sullivan, Felix Nitschké, 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 Arakel Minassian
This study shows that RBCK1 deficiency in mice leads to brain polyglucosan accumulation and neurodegeneration, similar to Lafora disease but with distinct regional and subcellular features.
bioRxiv · Mar 6, 2018 · PreprintMolecular Biology