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Article

Fabry disease: Mechanism and therapeutics strategies

26 Oct 2022

Abstract excerpt

Fabry disease is a monogenic disease characterized by a deficiency or loss of the α-galactosidase A (GLA). The resulting impairment in lysosomal GLA enzymatic activity leads to the pathogenic accumulation of enzymatic substrate and, consequently, the progressive appearance of clinical symptoms in target organs, including the heart, kidney, and brain. However, the mechanisms involved in Fabry disease-mediated...

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PMID: 36386210
DOI: 10.3389/fphar.2022.1025740

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