Characterization of two pathogenic mutations in cystathionine beta-synthase: Different intracellular locations for wild-type and mutant proteins

Gene

Volumn 531, Issue 1, 2013, Pages 117-124

  Casique, L ^a,b   Kabil, O ^c   Banerjee, R ^c   Martinez, J C ^b   De Lucca, M ^b  

^a UNIVERSIDAD SIMÓN BOLÍVAR   (Venezuela)

^b Fundacion Instituto de Estudios Avanzados IDEA   (Venezuela)

^c UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

Author keywords

Cystathionine beta synthase; Homocystinuria; Immunocytochemistry; Protein misfolding

Indexed keywords

CYSTATHIONINE BETA SYNTHASE; MUTANT PROTEIN; PYRIDOXINE;

ADOLESCENT; ARTICLE; CELL STRAIN HEK293; CELLULAR DISTRIBUTION; CONTROLLED STUDY; ENZYME ACTIVITY; EUKARYOTIC CELL; FLUORESCENCE MICROSCOPY; GEL PERMEATION CHROMATOGRAPHY; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HOMOCYSTINURIA; HUMAN; HUMAN CELL; IMMUNOCYTOCHEMISTRY; IN VITRO STUDY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; WILD TYPE;

4′,6-DIAMIDINO-2-PHENYLINDOLE; A; ABSORBANCE (1CM); CBS; CDNA; CHINESE HAMSTER OVARY; CHO; CLASSICAL HOMOCYSTINURIA; CYSTATHIONINE Β-SYNTHASE; CYSTATHIONINE BETA-SYNTHASE; DAPI; DIFFERENTIAL SCANNING CALORIMETRY; DNA COMPLEMENTARY TO RNA; DSC; ENDOPLASMIC RETICULUM; ER; GAPDH; GLUTHATIONINE-S-TRANSFERASE; GLYCERALDEHYDE 3-PHOSPHATE DEHYDROGENASE; GST; HCU; HEAT SHOCK PROTEIN 70; HEK-293; HIS; HOMOCYSTINURIA; HSP70; HUMAN EMBRYONIC KIDNEY 293; IMMUNOCYTOCHEMISTRY; KDA; KILODALTON(S); MELTING TEMPERATURE; MENDELIAN INHERITANCE IN MAN; MIM; NGS; NORMAL GOAT SERUM; PAGE; PLP; POLY-HISTIDINE TAG; POLYACRYLAMIDE GEL ELECTROPHORESIS; PROTEIN MISFOLDING; PYRIDOXAL 5′-PHOSPHATE; S-ADENOSYLMETHIONINE; SAM; SDS; SEM; SODIUM DODECYL SULFATE; STANDARD ERROR OF THE MEAN; TM; WILD-TYPE; WT;

ADOLESCENT; CELL LINE; CYSTATHIONINE BETA-SYNTHASE; ENZYME STABILITY; GENE EXPRESSION; GENOTYPE; HEK293 CELLS; HOMOCYSTINURIA; HUMANS; INTRACELLULAR SPACE; MUTATION; PHENOTYPE; PROTEIN TRANSPORT; RECOMBINANT FUSION PROTEINS; TEMPERATURE;

EUKARYOTA; PROKARYOTA;

EID: 84884817452     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.08.021     Document Type: Article

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