Five Novel Mutations in the Lysosomal Sialidase Gene (NEU1) in Type II Sialidosis Patients and Assessment of Their Impact on Enzyme Activity and Intracellular Targeting Using Adenovirus-Mediated Expression

Human Mutation

Volumn 23, Issue 1, 2004, Pages 32-39

  Pattison, Susan ^a   Pankarican, Michael ^a   Rupar, C Anthony ^b   Graham, Frank L ^a   Igdoura, Suleiman A ^a  

^a MCMASTER UNIVERSITY   (Canada)

^b UNIVERSITY OF WESTERN ONTARIO   (Canada)

Author keywords

Adenovirus expression; Lysosomal storage disorder; Metabolism; NEU1; Neuraminidase; Prenatal diagnosis

Indexed keywords

ADENOVIRUS VECTOR; GENOMIC DNA; SIALIDASE;

ALLELE; AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CATALYSIS; CELL CULTURE; CELLULAR DISTRIBUTION; CLINICAL FEATURE; DIAGNOSTIC VALUE; ENZYME ACTIVITY; ENZYME SUBSTRATE COMPLEX; FEMALE; FETUS HYDROPS; GENE; GENE MUTATION; HEPATOSPLENOMEGALY; HOMOZYGOTE; HUMAN; HUMAN CELL; INFANT; INTRACELLULAR TRANSPORT; MALE; MISSENSE MUTATION; NEU1 GENE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FOLDING; PROTEIN STABILITY; PROTEIN TARGETING; PSYCHOMOTOR RETARDATION; SCREENING; SIALIDOSIS; SIALIDOSIS TYPE II; SIBLING;

ADENOVIRIDAE; CELL LINE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; GENE EXPRESSION; GENETIC VECTORS; HUMANS; INFANT; LYSOSOMES; MUCOLIPIDOSES; MUTATION; NEURAMINIDASE; PROTEIN TRANSPORT; SEQUENCE HOMOLOGY, AMINO ACID;

ADENOVIRIDAE; HYDROPS;

EID: 0346727381     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10278     Document Type: Article

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