Autosomal recessive mutations in the glucocerebrosidase gene, Beta‐glucocerebrosidase 1 (GBA1), cause the lysosomal storage disorder Gaucher's disease. Heterozygous carriers of most GBA1 mutations have dramatically increased Parkinson's disease (PD) risk, but the mechanisms and cells affected remain unknown. Glucocerebrosidase expression is relatively enriched in astrocytes, yet the impact of its mutation in these cells has not yet been addressed.

中文翻译：

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GBA1 突变星形胶质细胞中的溶酶体和炎症缺陷通过 LRRK2 抑制而正常化

葡萄糖脑苷脂酶基因 β-葡萄糖脑苷脂酶 1 (GBA1) 的常染色体隐性突变导致溶酶体贮积症戈谢病。大多数 GBA1 突变的杂合子携带者显着增加了帕金森病 (PD) 的风险，但受影响的机制和细胞仍然未知。星形胶质细胞中葡萄糖脑苷脂酶的表达相对丰富，但其突变对这些细胞的影响尚未得到解决。