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Bidirectional regulation of glycoprotein nonmetastatic melanoma protein B by β-glucocerebrosidase deficiency in <i>GBA1</i> isogenic dopaminergic neurons from a patient with Gaucher disease and parkinsonism

2025-06-25

Abstract excerpt

Variants in GBA1 are common genetic risk factors for several synucleinopathies. The increased risk has been attributed to the toxic effects of misfolded glucocerebrosidase (GCase) (gain-of-function), and the accumulation of lipid substrates due to reduced enzyme activity (loss-of-function). To delineate GBA1 pathogenicity, an iPSC line was generated from a patient with both type 1 Gaucher disease ( GBA1 : N370S...

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Literature Corpus work
ca47e286-1220-504b-b13b-f9c1ed67e017
DOI
10.1101/2025.06.23.661126
Open publication

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Bidirectional regulation of glycoprotein nonmetastatic melanoma protein B by β-glucocerebrosidase deficiency in <i>GBA1</i> isogenic dopaminergic neurons from a patient with Gaucher disease and parkinsonismDOI 10.1101/2025.06.23.661126
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