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Volumn 277, Issue 7, 2002, Pages 5047-5053
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The molecular basis of glycogen storage disease type 1a. Structure and function analysis of mutations in glucose-6-phosphatase
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Author keywords
[No Author keywords available]
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Indexed keywords
AMINO ACIDS;
BIOLOGICAL MEMBRANES;
BIOSYNTHESIS;
DEGRADATION;
DISEASES;
ENZYMES;
GLUCOSE;
MUTAGENESIS;
POLYSACCHARIDES;
SUBSTRATES;
TRANSMEMBRANES;
BIOCHEMISTRY;
AMINO ACID;
GLUCOSE 6 PHOSPHATASE;
LACTACYSTIN;
MEMBRANE PROTEIN;
PROTEASOME;
AMINO ACID SUBSTITUTION;
ANIMAL CELL;
ARTICLE;
CODON;
CONTROLLED STUDY;
ENDOPLASMIC RETICULUM;
ENZYME ACTIVE SITE;
ENZYME DEFICIENCY;
GENE DELETION;
GENE MUTATION;
GLUCOSE HOMEOSTASIS;
GLYCOGEN STORAGE DISEASE TYPE 1;
IMMUNOBLOTTING;
MISSENSE MUTATION;
NONHUMAN;
PRIORITY JOURNAL;
PROTEIN DEGRADATION;
PROTEIN FUNCTION;
PROTEIN STABILITY;
PROTEIN STRUCTURE;
PROTEIN SYNTHESIS;
ACETYLCYSTEINE;
AMINO ACID SEQUENCE;
ANIMALS;
BETA-GALACTOSIDASE;
BINDING SITES;
BLOTTING, WESTERN;
CELL MEMBRANE;
CODON;
COS CELLS;
CYSTEINE PROTEINASE INHIBITORS;
CYTOPLASM;
DNA, COMPLEMENTARY;
ENDOPLASMIC RETICULUM;
EXONS;
GENE DELETION;
GENOTYPE;
GLUCOSE;
GLUCOSE-6-PHOSPHATASE;
GLYCOGEN STORAGE DISEASE TYPE I;
HETEROZYGOTE;
HOMEOSTASIS;
HOMOZYGOTE;
HUMANS;
IMMUNOBLOTTING;
MOLECULAR SEQUENCE DATA;
MUTATION;
MUTATION, MISSENSE;
PHENOTYPE;
PHOSPHORIC MONOESTER HYDROLASES;
POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;
PROTEIN BIOSYNTHESIS;
PROTEIN STRUCTURE, TERTIARY;
STRUCTURE-ACTIVITY RELATIONSHIP;
TIME FACTORS;
TRANSCRIPTION, GENETIC;
TRANSFECTION;
ANIMALIA;
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EID: 0037085388
PISSN: 00219258
EISSN: None
Source Type: Journal
DOI: 10.1074/jbc.M110486200 Document Type: Article |
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Times cited : (64)
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References (36)
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