Interplay between Glucocerebrosidase 1 and Glucocerebrosidase 2; potential implications for the pathogenesis of Gaucher and Parkinson's diseases

@inproceedings{Burke2017InterplayBG,
  title={Interplay between Glucocerebrosidase 1 and Glucocerebrosidase 2; potential implications for the pathogenesis of Gaucher and Parkinson's diseases},
  author={Derek C. Burke},
  year={2017}
}
Gaucher disease (GD) is a lysosomal storage disorder with wide clinical heterogeneity, caused by mutations in the GBA gene leading to low or deficient levels of the lysosomal enzyme Glucocerebrosidase (GBA1). Mutations in GBA1 are also the single most common genetic risk factor for developing Parkinson’s disease (PD). However, the majority of GD patients and carriers do not develop PD, suggesting the possibility of other disease modifying factors. GBA2 is a non-lysosomal enzyme capable of… CONTINUE READING

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