Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.
Cozar, Mónica; Urreizti, Roser; Vilarinho, Laura; Grosso, Carola; Dodelson de Kremer, Raquel; Asteggiano, Carla G; Dalmau, Jaime; García, Ana María; Vilaseca, María Antonia; Grinberg, Daniel; Balcells, Susana.
; 32(7): 835-42, 2011 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-21520339
Novel cystathionine ß-synthase gene mutations in a Filipino patient with classic homocystinuria.
Spontaneous perforation of the small intestine, a novel manifestation of classical homocystinuria in an adult with new cystathionine beta-synthetase gene mutations.
Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells.
Human cystathionine ß-synthase (CBS) contains two classes of binding sites for S-adenosylmethionine (SAM): complex regulation of CBS activity and stability by SAM.
Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients.
A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency.
The c.797 G>A (p.R266K) cystathionine ß-synthase mutation causes homocystinuria by affecting protein stability.
Molecular analysis of homocystinuria in Brazilian patients.
A forgotten lethal psychosis: a case report.
Insights into the regulatory domain of cystathionine Beta-synthase: characterization of six variant proteins.