N-Butyldeoxynojirimycin Delays Motor Deficits, Cerebellar Microgliosis, and Purkinje Cell Loss in a Mouse Model of Mucolipidosis type IV

Mucolipidosis type IV (MLIV) is a lysosomal storage disease exhibiting progressive intellectual disability, motor impairment, and premature death. There is currently no cure or corrective treatment. The disease results from mutations in the gene encoding mucolipin-1, a transient receptor potential channel believed to play a key role in lysosomal calcium egress. Loss of mucolipin-1 and [...]