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Front Endocrinol (Lausanne) 2022;13:988295.ArticlePubMedPMC 20

doi: 10.5137/1019-5149.JTN.17405-16.0

The key pathophysiological downstream effect of GBA mutations is decreased glucocerebrosidase (GCase) activity and lysosomal dysfunction and experimental studies have shown a reciprocal relationship of GCase activity and -synuclein aggregation [191, 192]