Immunocytochemical detection of accumulated substrates in cultured fibroblasts from patients with the infantile and adult forms of Sandhoff disease

Clinica Chimica Acta

Volumn 265, Issue 2, 1997, Pages 263-266

  Sakuraba, Hitoshi ^a   Itoh, Kohji ^a   Kuroki, Yoko ^a   Kase, Ryoichi ^a   Shimmoto, Michie ^a   Utsumi, Kouichi ^a   Ozawa, Hideki ^a   Tai, Tadashi ^a   Hara, Akio ^b   Uyama, Eiichiro ^b  

^a TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

^b KUMAMOTO UNIV SCHOOL OF MEDICINE   (Japan)

Author keywords

Glycoprotein; GM2 ganglioside; Immunocytochemistry; Oligosaccharide; Sandhoff disease; Hexosaminidase

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE; GANGLIOSIDE GM2;

CASE REPORT; CELL CULTURE; CONTROLLED STUDY; ENZYME ACTIVITY; FIBROBLAST; GENE MUTATION; HUMAN; HUMAN CELL; IMMUNOCYTOCHEMISTRY; PRIORITY JOURNAL; SANDHOFF DISEASE; SHORT SURVEY;

EID: 17544387130     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0009-8981(97)00143-5     Document Type: Article

References (5)

1. Gravel RA, Clarke JTR, Kaback MM, Mahuran D, Sandhoff K, Suzuki K. The GM2 gangliosidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. seventh ed. New York: McGraw-Hill, 1995:2839-2879.
2. Ozawa H, Yamashita K, Sakuraba H, Itoh K, Kase R, Tai T. Generation and characterization of mouse monoclonal antibodies specific for N-linked oligosaccharides of glycoproteins. Arch Biochem Biophys in press.
3. Kotani M, Ozawa H, Kawashima I, Ando S, Tai T. Generation of one set of monoclonal antibodies specific for a-pathway ganglio-series gangliosides. Biochem Biophys Acta 1992;1117:97-103.
4. Neote K, Bapat B, Dumbrille-Ross A et al. Characterization of the human HEXB gene encoding lysosomal β-hexosaminidase. Genomics 1988;3:279-86.
5. Kuroki Y, Itoh K, Nadaoka Y, Tanaka T, Sakuraba H. A novel missense mutation (C522Y) is present in the β-hexosaminidase β-subunit gene of a Japanese patient with infantile Sandhoff disease. Biochem Biophys Res Commun 1995;212:564-71.