Article
A novel HEXB mutation and its structural effects in juvenile Sandhoff disease.
Molecular genetics and metabolism - 1 Dec 2008
Wang S Z, Cachón-González M B, Stein P E, Lachmann R H, Corry P C, Wraith J E, Cox T M
Abstract excerpt
Mutations in HEXB, encoding the beta-subunit common to hexosaminidases A and B, cause the neurodegenerative condition, Sandhoff disease. A homozygous missense HEXB mutation (p. D459A) was discovered in six patients with a rare juvenile variant: we show that this disrupts a salt bridge between aspartate D459 and arginine 505 at the subunit interface; R505 mutations are reported in late-onset Sandhoff disease....
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