Pyrimethamine molecular chaperone is being tested to treat a late-onset form of this disease. A useful model of this disease is the G444R mutant of Jacob sheep, and French-Canadians suffering from this disease commonly have a 7-kb deletion in exon 1. The enzyme complex affected in this disease can form a non-functional "S" dimer if two of its alpha subunits come together. The most well-characterized mutation that causes this disease is a TATC insertion in exon 11. This disease is similar to the "AB-variant" disease and (*) Sandhoff's disease, and a common sign of this disease is a cherry-red spot on the retina. This disease is caused by mutations in hexosaminidase A, which results in a dange
Pyrimethamine molecular chaperone is being tested to treat a late-onset form of this disease. A useful model of this disease is the G444R mutant of Jacob sheep, and French-Canadians suffering from this disease commonly have a 7-kb deletion in exon 1. The enzyme complex affected in this disease can form a non-functional "S" dimer if two of its alpha subunits come together. The most well-characterized mutation that causes this disease is a TATC insertion in exon 11. This disease is similar to the "AB-variant" disease and (*) Sandhoff's disease, and a common sign of this disease is a cherry-red spot on the retina. This disease is caused by mutations in hexosaminidase A, which results in a dangerous buildup of GM2 gangliosides in the nervous system. For 10 points, name this autosomal recessive disease whose sufferers often die by age 5, which is common among Ashkenazi Jews.
Pyrimethamine molecular chaperone is being tested to treat a late-onset form of this disease.