Article
Altered TFEB-mediated lysosomal biogenesis in Gaucher disease iPSC-derived neuronal cells.
Human molecular genetics - 15 Oct 2015
Awad Ola, Sarkar Chinmoy, Panicker Leelamma M, Miller Diana, Zeng Xianmin, Sgambato Judi A, Lipinski Marta M, Feldman Ricardo A
Abstract excerpt
Gaucher disease (GD) is caused by mutations in the GBA1 gene, which encodes the lysosomal enzyme glucocerebrosidase (GCase). The severe forms of GD are associated with neurodegeneration with either rapid (Type 2) or slow progression (Type 3). Although the neurodegenerative process in GD has been linked to lysosomal dysfunction, the mechanisms involved are largely unknown. To identify the lysosomal alterations in...
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