Benign HEXA mutations, C739T(R247W) and C745T(R249W), cause β- hexosaminidase A pseudodeficiency by reducing the α-subunit protein levels

Journal of Biological Chemistry

Volumn 272, Issue 23, 1997, Pages 14975-14982

  Cao, Zhimin ^a,b   Petroulakis, Emmanuel ^a   Salo, Timothy ^a   Triggs Raine, Barbara ^a  

^a UNIVERSITY OF MANITOBA   (Canada)

^b University of Louisville School of Medicine   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE A;

ANIMAL CELL; ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME DEFICIENCY; ENZYME SPECIFICITY; ENZYME SUBSTRATE; GENE MUTATION; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; TAY SACHS DISEASE;

ADULT; AGE OF ONSET; ANIMALS; BETA-N-ACETYLHEXOSAMINIDASE; CHILD; COS CELLS; GANGLIOSIDOSIS, GM1; HUMANS; HYMECROMONE; INFANT; ISOENZYMES; KINETICS; MACROMOLECULAR SUBSTANCES; POINT MUTATION; RECOMBINANT PROTEINS; TRANSFECTION;

ANIMALIA;

EID: 0030902979     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.272.23.14975     Document Type: Article

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