Novel HEXA variants in Korean children with Tay–Sachs disease with regression of neurodevelopment from infancy
Abstract Background Tay–Sachs disease (TSD) is a lysosomal storage disease caused by mutations in the HEXA gene that encodes the HexosaminidaseA (HEXA) enzyme. As HEXA normally functions to degrade the protein GM2‐ganglioside in lysosomes, decreased levels of HEXAcauses an accumulation of the protei...
Main Authors: | , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Wiley
2021-06-01
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Series: | Molecular Genetics & Genomic Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1002/mgg3.1677 |