Beta-hexosaminidase: biosynthesis and processing of the normal enzyme, and identification of mutations causing Jewish Tay-Sachs disease.

Abstract excerpt

OBJECTIVES: This report presents an overview of the nearly 100-year history of the study of Tay-Sachs disease in the Ashkenazi Jewish population. DESIGN AND METHODS: Each major step leading to our present understanding of the disease are highlighted. RESULTS: The original interest in the cause of this devastating disease in the late 1800s led to the identification of a novel glycolipid. GM2 ganglioside, stored in...

Topics

• Amino Acid Sequence
• Carbohydrate Sequence
• Hexosaminidase A
• Humans
• Jews
• Molecular Sequence Data
• Mutation
• Protein Processing, Post-Translational
• Reference Values
• Tay-Sachs Disease
• beta-N-Acetylhexosaminidases