Inventaire - أصدقاؤك ومجتمعاتك هم أفضل مكتبة لك

Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate.

الكاتب

Jakub Krijt

1961 -

Viktor Kožich

1960 -

Petra Melenovská

Aleš Hnízda

منشور في: Journal of Inherited Metabolic Disease

تاريخ النشر: 2014-10-21

الموضوع الرئيسي: شابرون

Cites articles 28

Date

العنوان

الكاتبون

2014-04-01

Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators

João Leandro
2013-09-16

Structural basis of regulation and oligomerization of human cystathionine β-synthase, the central enzyme of transsulfuration

Tomas Majtan, Iker Oyenarte, Luis Alfonso Martínez-Cruz
2012-01-20

Surrogate genetics and metabolic profiling for characterization of human disease alleles
2012-07-31

Effect of the disease-causing R266K mutation on the heme and PLP environments of human cystathionine β-synthase

Tomas Majtan
2011-11-09

Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts
2010-05-20

Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones
2010-07-01

Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity

Viktor Kožich, Jitka Sokolová, Jakub Krijt
2010-03-22

Rescue of cystathionine beta-synthase (CBS) mutants with chemical chaperones: purification and characterization of eight CBS mutant enzymes

Tomas Majtan
2009-09-01

Heme regulation of human cystathionine beta-synthase activity: insights from fluorescence and Raman spectroscopy
2008-04-29

Partial trypsin digestion as an indicator of mis-folding of mutant alanine:glyoxylate aminotransferase and chaperone effects of specific ligands. Study of a spectrum of missense mutants

Marion Coulter-Mackie
2008-08-01

Protein misfolding in conformational disorders: rescue of folding defects and chemical chaperoning

Paula Leandro, Cláudio M. Gomes
2008-10-10

Active cystathionine beta-synthase can be expressed in heme-free systems in the presence of metal-substituted porphyrins or a chemical chaperone

Tomas Majtan
2007-05-30

Chemical chaperone rescue of mutant human cystathionine beta-synthase

Viktor Kožich
2006-05-01

Contrasting behaviors of mutant cystathionine beta-synthase enzymes associated with pyridoxine response
2005-04-01

Acute intermittent porphyria

Ariane I. Herrick
2004-09-01

Wild-type phenylalanine hydroxylase activity is enhanced by tetrahydrobiopterin supplementation in vivo: an implication for therapeutic basis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
2004-11-01

Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: implications for tetrahydrobiopterin-responsive hyperphenylalaninemia.

Aurora Martinez
2002-08-01

The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment
2002-04-01

Effects of heme ligand mutations including a pathogenic variant, H65R, on the properties of human cystathionine beta-synthase
2001-05-15

Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria

Jitka Sokolová
2000-02-01

Chemical chaperones mediate increased secretion of mutant alpha 1-antitrypsin (alpha 1-AT) Z: A potential pharmacological strategy for prevention of liver injury and emphysema in alpha 1-AT deficiency
1999

Cystathionine beta-synthase mutations in homocystinuria

Henk J Blom
1994-10-01

Transsulfuration depends on heme in addition to pyridoxal 5'-phosphate. Cystathionine beta-synthase is a heme protein
1986-09-01

Pharmacokinetics of intravenously administered haem arginate
1985-12-01

Homocystinuria due to cystathionine beta-synthase deficiency--the effects of betaine treatment in pyridoxine-responsive patients.
1983-08-01

Homocystinuria--the effects of betaine in the treatment of patients not responsive to pyridoxine.
1972-06-01

Detection of abnormal sulphur-containing amino acid excretion in a mass urine-screening programme
1963-10-01

HOMOCYSTINURIA: A NEW INBORN ERROR OF METABOLISM ASSOCIATED WITH MENTAL DEFICIENCY.

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