Homozygous GRN mutations: unexpected phenotypes and new insights into pathological and molecular mechanisms

Vincent Huin, Mathieu Barbier, Armand Bottani +18

Homozygous mutations in the progranulin gene (GRN) are associated with neuronal ceroid lipofuscinosis 11 (CLN11), a rare lysosomal-storage disorder characterized by cerebellar atax…