Characterization of two pathogenic mutations in cystathionine beta-synthase: different intracellular locations for wild-type and mutant proteins.
Gene
; 531(1): 117-24, 2013 Nov 15.
Article
em En
| MEDLINE
| ID: mdl-23981774
Palavras-chave
4',6-diamidino-2-phenylindole; A; CBS; CHO; Chinese hamster ovary; Cystathionine beta-synthase; DAPI; DNA complementary to RNA; DSC; ER; GAPDH; GST; HCU; HEK-293; HIS; Homocystinuria; Hsp70; Immunocytochemistry; MIM; Mendelian inheritance in man; NGS; PAGE; PLP; Protein misfolding; S-adenosylmethionine; SAM; SDS; SEM; Tm; WT; absorbance (1cm); cDNA; classical homocystinuria; cystathionine ß-synthase; differential scanning calorimetry; endoplasmic reticulum; gluthationine-S-transferase; glyceraldehyde 3-phosphate dehydrogenase; heat shock protein 70; human embryonic kidney 293; kDa; kilodalton(s); melting temperature; normal goat serum; poly-histidine tag; polyacrylamide gel electrophoresis; pyridoxal 5'-phosphate; sodium dodecyl sulfate; standard error of the mean; wild-type
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Cistationina beta-Sintase
/
Homocistinúria
/
Mutação
Idioma:
En
Revista:
Gene
Ano de publicação:
2013
Tipo de documento:
Article