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.

@article{Kanekura2005ThreeDS,
  title={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.},
  author={Takuro Kanekura and Hitoshi Sakuraba and Fumiko Matsuzawa and Seiichi Aikawa and Hirofumi Doi and Yoshio Hirabayashi and Noriko Yoshii and Tomoko Fukushige and Tamotsu Kanzaki},
  journal={Journal of dermatological science},
  year={2005},
  volume={37 1},
  pages={15-20}
}
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… CONTINUE READING