GBA1 and osteoporosis: Mistry and colleagues first assessed a lyso-Gb1–based mechanism of skeletal disease in GD1 patients in a murine model with GBA1 gene deletion, which showed the development of severe osteoporosis due to the accumulation of both lyso-Gb1 and glucosylceramide in osteoblasts, inhibiting protein kinase C and bone formation [36].