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Volumn 436, Issue 2, 2011, Pages 447-455
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Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease
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Author keywords
Congenitalmuscular dystrophy; Glycopeptide; Muscle eye brain disease; Protein O mannose N acetylglucosaminyltransferase 1 (POMGnT1)
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Indexed keywords
ALPHA DYSTROGLYCAN;
GLYCOSYLTRANSFERASE;
MANNOSE;
N ACETYLGLUCOSAMINE;
PROTEIN O MANNOSE N ACETYLGLUCOSAMINYLTRANSFERASE 1;
RECOMBINANT PROTEIN;
UNCLASSIFIED DRUG;
ADOLESCENT;
ADULT;
AMINO ACID SEQUENCE;
ARTICLE;
CATALYSIS;
CHILD;
CLINICAL ARTICLE;
ENZYME ACTIVITY;
ENZYME KINETICS;
ENZYME SUBSTRATE;
ESCHERICHIA COLI;
FEMALE;
GENE MUTATION;
GENETIC VARIABILITY;
HUMAN;
HUMAN TISSUE;
MALE;
MUSCLE EYE BRAIN DISEASE;
NUCLEOTIDE SEQUENCE;
PRESCHOOL CHILD;
PRIORITY JOURNAL;
PROTEIN EXPRESSION;
PROTEIN PURIFICATION;
PROTEIN STRUCTURE;
PROTEIN SYNTHESIS;
SCHOOL CHILD;
ADOLESCENT;
CHILD;
CHILD, PRESCHOOL;
DYSTROGLYCANS;
FEMALE;
GLYCOSYLTRANSFERASES;
HUMANS;
INFANT;
MALE;
MUTATION;
N-ACETYLGLUCOSAMINYLTRANSFERASES;
PEPTIDE FRAGMENTS;
POINT MUTATION;
SUBSTRATE SPECIFICITY;
WALKER-WARBURG SYNDROME;
YOUNG ADULT;
ESCHERICHIA COLI;
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EID: 79956046981
PISSN: 02646021
EISSN: 14708728
Source Type: Journal
DOI: 10.1042/BJ20101059 Document Type: Article |
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Times cited : (17)
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References (2)
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