Beyond the Macrophage: System-wide Cellular and Molecular Dysregulation in GBA1 Deficient Mice Recapitulates Human Non-neuronopathic, Type 1 Gaucher Disease

ABSTRACT: In non-neuronopathic type 1 Gaucher disease (GD1) mutations in GBA1 gene results in deficiency of glucocerebrosidase and the accumulation of glucocerebroside in lysosomes of mononuclear phagocytes. The metabolic defect leads to a complex phenotype involving the viscera, the bone marrow and the skeleton. However the prevailing macrophage-centric view of the disease does not explain emerging aspects of the disease such as hematological malignancies, autoimmune diathesis, ParkinsonM-bM-^@M-^Ys disease and osteoporosis poorly responsive to macrophage targeted enzyme therapy or anti-resorptive therapies. We developed a conditional KO mouse model of GD1 to delineate cells and pathways in GD1. By targeting the cells of the hematopoetic and mesenchymal cell lineages through an Mx1 promoter, we rec

ORGANISM(S): Mus musculus

SUBMITTER: Pramod Mistry 

PROVIDER: E-GEOD-23086 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress