Article
Three dimensional structural studies of alpha-N-acetylgalactosaminidase (alpha-NAGA) in alpha-NAGA deficiency (Kanzaki disease): different gene mutations cause peculiar structural changes in alpha-NAGAs resulting in different substrate specificities and clinical phenotypes.
Journal of dermatological science - 1 Jan 2005
Kanekura Takuro, Sakuraba Hitoshi, Matsuzawa Fumiko, Aikawa Seiichi, Doi Hirofumi, Hirabayashi Yoshio, Yoshii Noriko, Fukushige Tomoko, Kanzaki Tamotsu
Abstract excerpt
BACKGROUND: Kanzaki disease (OMIM#104170) is attributable to a deficiency in alpha-N-acetylgalactosaminidase (alpha-NAGA; E.C.3.2.1.49), which hydrolyzes GalNAcalpha1-O-Ser/Thr. Missense mutations, R329W or R329Q were identified in two Japanese Kanzaki patients. Although they are on the same codon, the clinical manifestation was more severe in R329W because an amino acid substitution led to protein instability...
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