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Article

Glucocerebrosidase mutations: A paradigm for neurodegeneration pathways.

Free radical biology & medicine - 1 Nov 2021

Vieira Sophia R L, Schapira Anthony H V

Abstract excerpt

Biallelic (homozygous or compound heterozygous) glucocerebrosidase gene (GBA) mutations cause Gaucher disease, whereas heterozygous mutations are numerically the most important genetic risk factor for Parkinson disease (PD) and are associated with the development of other synucleinopathies, notably Dementia with Lewy Bodies. This phenomenon is not limited to GBA, with converging evidence highlighting further...

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PMID: 34450264
DOI: 10.1016/j.freeradbiomed.2021.08.230

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