Juan Diego Gutiérrez-Ávila

Generation and Characterization of an Osteoclastic Cell Model of Gaucher’s Bone Disease

Abstract Gaucher disease (GD) is caused by recessive mutations in the GBA1 gene (Glucosylceramidase beta 1) generating lysosomal accumulation of glucosylceramides. Bone phenotypes related to GD include Erlenmeyer flask deformity, osteosclerosis, osteonecrosis, osteopenia, and bon...