W474C amino acid substitution affects early processing of the α- subunit of β-hexosaminidase A and is associated with subacute G(M2) gangliosidosis

Human Mutation

Volumn 11, Issue 6, 1998, Pages 432-442

  Petroulakis, Emmanuel ^a   Cao, Zhimin ^a   Clarke, Joe T R ^b,c   Mahuran, Don J ^b,c   Lee, Gregory ^d   Triggs Raine, Barbara ^a  

^a UNIVERSITY OF MANITOBA   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

^d UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

hexosaminidase; G(M2) gangliosidosis; HEXA; Lysosomal enzyme; Tay Sachs disease

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE A;

ALLELE; ALPHA CHAIN; AMINO ACID SUBSTITUTION; ARTICLE; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME DEFICIENCY; FIBROBLAST; GENE INSERTION; GM2 GANGLIOSIDOSIS; HUMAN; HUMAN CELL; PRIORITY JOURNAL; PROTEIN PROCESSING; TAY SACHS DISEASE;

ADOLESCENT; AGE OF ONSET; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; BETA-N-ACETYLHEXOSAMINIDASE; CELL LINE; COS CELLS; ELECTROPHORESIS, GEL, PULSED-FIELD; EXONS; FIBROBLASTS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PHOSPHORYLATION; PROTEIN PROCESSING, POST-TRANSLATIONAL; SEQUENCE HOMOLOGY, AMINO ACID; TAY-SACHS DISEASE; TRANSFECTION;

EID: 0031958253     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)11:6<432::AID-HUMU3>3.0.CO;2-Z     Document Type: Article

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