GBA1 as a risk gene for osteoporosis in the specific populations and its role in the development of Gaucher disease.
Chung-Hsing WangYu-Nan HuangWen-Ling LiaoAi-Ru HsiehWei-De LinKai-Wen LiuWen-Li LuChieh-Chen HuangYin-Hsiu ChienHung-Chang LeePen-Hua SuFuu-Jen TsaiPublished in: Orphanet journal of rare diseases (2024)
Elevated ER stress and inflammasome activation are indicative of osteoporosis development, suggesting the need for clinical monitoring of patients with GD. Furthermore, disease-associated variant in the GBA1 gene may constitute a risk factor predisposing specific populations to osteoporosis.