A novel HEXB mutation and its structural effects in juvenile Sandhoff disease

作者:Wang S Z; Cachon Gonzalez M B; Stein P E; Lachmann R H; Corry P C; Wraith J E; Cox T M*
来源:Molecular Genetics and Metabolism, 2008, 95(4): 236-238.
DOI:10.1016/j.ymgme.2008.08.007

摘要

Mutations in HEXB, encoding the p-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. Identification of D459A contributes to diagnosis and molecular understanding of attenuated Sandhoff disease variants.

  • 出版日期2008-12

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