Condition: Homocystinuria


rs121964962 in CBS gene and Homocystinuria PMID 14722927 2004 The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuria.

PMID 12124992 2002 The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.

PMID 20506325 2010 Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.

PMID 22267502 2012 Surrogate genetics and metabolic profiling for characterization of human disease alleles.

PMID 22612060 2012 Conformational properties of nine purified cystathionine β-synthase mutants.

PMID 8353501 1993 Molecular defect in a patient with pyridoxine-responsive homocystinuria.

PMID 20490928 2011 Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones.

PMID 10338090 1999 Cystathionine beta-synthase mutations in homocystinuria.

PMID 10364517 1999 The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment.

PMID 8755636 1996 Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.

PMID 23974653 2014 Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients.

PMID 11230183 2001 Mutations in the regulatory domain of cystathionine beta synthase can functionally suppress patient-derived mutations in cis.

PMID 9864922 1998 The frequency of 844ins68 mutation in the cystathionine beta-synthase gene is not increased in patients with venous thrombosis.

PMID 16375773 2005 Cystathionine beta-synthase T833C/844INS68 polymorphism: a family-based study on mentally retarded children.

PMID 18201569 2008 Origin and evolution of the c.844_845ins68/c.833T>C mutations within the cystathionine beta-synthase gene in great apes.

PMID 8940271 1996 High prevalence of a mutation in the cystathionine beta-synthase gene.

PMID 7611293 1995 A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype.

PMID 17540596 2007 Chemical chaperone rescue of mutant human cystathionine beta-synthase.

PMID 20455263 2010 Testing computational prediction of missense mutation phenotypes: functional characterization of 204 mutations of human cystathionine beta synthase.

PMID 21517828 2012 Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria.

PMID 29508359 2018 Eight novel mutations of CBS gene in nine Chinese patients with classical homocystinuria.

PMID 25218699 2015 Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS.

PMID 7762555 1995 The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.

PMID 16205833 2005 Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.

PMID 9266356 1997 Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: report on three novel mutations E176K, W409X and 1223 + 37 del99.

PMID 22353391 2012 Homocystinuria in Taiwan: an inordinately high prevalence in an Austronesian aboriginal tribe, Tao.

PMID 28980096 2018 Isolated aortic root dilation in homocystinuria.

PMID 21520339 2011 Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.

PMID 27243974 2016 Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.

PMID 24211323 2014 High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands.

PMID 16307898 2006 Expression study of mutant cystathionine beta-synthase found in Japanese patients with homocystinuria.

PMID 23981774 2013 This study demonstrates that the pathogenic CBS mutations generate unstable proteins that are unable (T87N) or partially unable (D234N) to assemble into a functional enzyme, implying that these mutations might be responsible for the homocystinuria phenotype.

PMID 16786517 2006 A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population.

PMID 11343305 2001 Disposition of homocysteine in subjects heterozygous for homocystinuria due to cystathionine beta-synthase deficiency: relationship between genotype and phenotype.

PMID 9361025 1997 Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria.

PMID 14635102 2003 Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.