Three dimensional structural studies of α-N-acetylgalactosaminidase (α-NAGA) in α-NAGA deficiency (Kanzaki disease): Different gene mutations cause peculiar structural changes in α-NAGAs resulting in different substrate specificities and clinical phenotypes

Journal of Dermatological Science

Volumn 37, Issue 1, 2005, Pages 15-20

  Kanekura, Takuro ^a   Sakuraba, Hitoshi ^b   Matsuzawa, Fumiko ^c   Aikawa, Seiichi ^c   Doi, Hirofumi ^c   Hirabayashi, Yoshio ^d   Yoshii, Noriko ^a   Fukushige, Tomoko ^a   Kanzaki, Tamotsu ^a  

^a KAGOSHIMA UNIVERSITY   (Japan)

^b TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

^c Celestar Lexico Sciences Inc   (Japan)

^d INST OF PHYS AND CHEMICAL RESEARCH   (Japan)

Author keywords

N acetylgalactosaminidase deficiency; Homology modeling; Kanzaki disease

Indexed keywords

ALPHA N ACETYLGALACTOSAMINIDASE; GLYCOPEPTIDE; N ACETYLGALACTOSAMINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; ENZYME ACTIVE SITE; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME STRUCTURE; FEMALE; GENETIC MODEL; HEMANGIOKERATOMA; HUMAN; KANZAKI DISEASE; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; STRUCTURE ANALYSIS; THREE DIMENSIONAL IMAGING; URINARY EXCRETION;

ALPHA-N-ACETYLGALACTOSAMINIDASE; ANTIGENS, TUMOR-ASSOCIATED, CARBOHYDRATE; ENZYME ACTIVATION; FEMALE; GENOTYPE; GLYCOSIDES; HUMANS; MIDDLE AGED; MUTATION; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; SUBSTRATE SPECIFICITY;

EID: 11144280604     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2004.09.005     Document Type: Article

References (12)

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