Article
Gaucher disease iPSC-derived osteoblasts have developmental and lysosomal defects that impair bone matrix deposition.
Human molecular genetics - 1 Mar 2018
Panicker Leelamma M, Srikanth Manasa P, Castro-Gomes Thiago, Miller Diana, Andrews Norma W, Feldman Ricardo A
Abstract excerpt
Gaucher disease (GD) is caused by bi-allelic mutations in GBA1, the gene that encodes acid β-glucocerebrosidase (GCase). Individuals affected by GD have hematologic, visceral and bone abnormalities, and in severe cases there is also neurodegeneration. To shed light on the mechanisms by which mutant GBA1 causes bone disease, we examined the ability of human induced pluripotent stem cells (iPSC) derived from...
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