Pharmacological Enhancement of β-Hexosaminidase Activity in Fibroblasts from Adult Tay-Sachs and Sandhoff Patients
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry
Reference40 articles.
1. The Metabolic and Molecular Bases of Inherited Disease;Gravel,1995
2. Crystal Structure of Human β-Hexosaminidase B: Understanding the Molecular Basis of Sandhoff and Tay–Sachs Disease
3. Direct Determination of the Substrate Specificity of the α-Active Site in Heterodimeric β-Hexosaminidase A
4. The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis
5. Two mutations produce intron insertion in mRNA and elongated beta-subunit of human beta-hexosaminidase.
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