TY - JOUR AU - Borger, Daniel K. AU - Aflaki, Elma AU - Sidransky, Ellen PY - 2015 TI - Applications of iPSC-derived models of Gaucher disease JF - Annals of Translational Medicine; Vol 3, No 19 (November 16, 2015): Annals of Translational Medicine Y2 - 2015 KW - N2 - Gaucher disease (GD) is an autosomal recessive disorder caused by loss-of-function mutations in the GBA1 gene, which codes for the lysosomal hydrolase glucocerebrosidase (GCase). GCase deficiency leads to accumulation of un-metabolized glycolipid substrates, primarily in cells of the macrophage lineage. GD usually manifests with visceral, hematological, and skeletal involvement, and common symptoms include hepatosplenomegaly, anemia, thrombocytopenia, and osteopenia. More severe enzyme deficiency can also lead to neuronal glycolipid accumulation and central nervous system symptoms. UR - https://atm.amegroups.org/article/view/8171