Zobrazeno 1 - 10
of 165
pro vyhledávání: '"Jan P Kraus"'
Autor:
Tomas Majtan, Angel L Pey, Roberto Fernández, José A Fernández, Luis A Martínez-Cruz, Jan P Kraus
Publikováno v:
PLoS ONE, Vol 9, Iss 8, p e105290 (2014)
Cystathionine beta-synthase (CBS) is a key regulator of sulfur amino acid metabolism diverting homocysteine, a toxic intermediate of the methionine cycle, via the transsulfuration pathway to the biosynthesis of cysteine. Although the pathway itself i
Externí odkaz:
https://doaj.org/article/beefd4db48e5421f9ab4d2d652de855e
Autor:
Vinciane Régnier, Jean-Marie Billard, Sapna Gupta, Brigitte Potier, Stéphanie Woerner, Evelyne Paly, Aurélie Ledru, Sabrina David, Sabrina Luilier, Jean-Charles Bizot, Guido Vacano, Jan P Kraus, David Patterson, Warren D Kruger, Jean M Delabar, Jaqueline London
Publikováno v:
PLoS ONE, Vol 7, Iss 1, p e29056 (2012)
The cystathionine β-synthase (CBS) gene, located on human chromosome 21q22.3, is a good candidate for playing a role in the Down Syndrome (DS) cognitive profile: it is overexpressed in the brain of individuals with DS, and it encodes a key enzyme of
Externí odkaz:
https://doaj.org/article/0b397ddeef404ea3802e5fffda370b15
Publikováno v:
PLoS Genetics, Vol 6, Iss 1, p e1000807 (2010)
Missense mutant proteins, such as those produced in individuals with genetic diseases, are often misfolded and subject to processing by intracellular quality control systems. Previously, we have shown using a yeast system that enzymatic function coul
Externí odkaz:
https://doaj.org/article/3ddb456220b44e1fbb6bbf7926bb1f96
Autor:
Brian R. Branchford, Tomas Majtan, Erez M. Bublil, Jorge Di Paola, Jan P. Kraus, Allaura Cox, Insun Park
Publikováno v:
FASEB J
Classic homocystinuria (HCU) is an inherited disorder characterized by elevated homocysteine (Hcy) in plasma and tissues resulting from cystathionine β-synthase (CBS) deficiency. There is no cure, and patients are predominantly managed by methionine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dddb474addac560fb73b5b50e7e6df3
https://doi.org/10.1096/fj.201901203r
https://doi.org/10.1096/fj.201901203r
Autor:
Jan P. Kraus, Paula Giménez-Mascarell, Tomas Majtan, June Ereño-Orbea, Juraj Majtan, Jaroslav Klaudiny, Luis Alfonso Martínez-Cruz, Iker Oyenarte
Publikováno v:
Journal of Structural Biology. 202:82-93
Cystathionine β-synthase (CBS), the key enzyme in the transsulfuration pathway, links methionine metabolism to the biosynthesis of cellular redox controlling molecules. CBS catalyzes the pyridoxal-5'-phosphate-dependent condensation of serine and ho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab2f131dc388e786388b6ca2f73c7770
https://doi.org/10.1016/j.jsb.2017.12.008
https://doi.org/10.1016/j.jsb.2017.12.008
Homocystinuria due to loss of cystathionine beta-synthase (CBS) causes accumulation of homocysteine and depletion of cysteine. Current treatments are suboptimal, and thus the development of an enzyme replacement therapy based on PEGylated human trunc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::842b78a5415ec9d96e1fbf0568333764
Autor:
Angel L. Pey, Paula Giménez-Mascarell, Viktor Kožich, Jan P. Kraus, Tomas Majtan, Csaba Szabó, Luis Alfonso Martínez-Cruz
Publikováno v:
Targeting Trafficking in Drug Development ISBN: 9783319741635
Classical homocystinuria (HCU) is the most common loss-of-function inborn error of sulfur amino acid metabolism. HCU is caused by a deficiency in enzymatic degradation of homocysteine, a toxic intermediate of methionine transformation to cysteine, ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::812a2a3b7f4a1e43bd357f4f82a13d81
Cystathionine beta-synthase (CBS) plays a key role in the metabolism of sulfur-containing amino acids. CBS is a multidomain tetrameric enzyme allosterically activated by S-adenosylmethionine (AdoMet). Recent crystallographic analyses of engineered CB
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9351bc56c68a5dd70e4602e6270864b9
Autor:
Tomas Majtan, Erez M. Bublil, Insun Park, Jan P. Kraus, Viktor Kožich, Helena Hůlková, Jakub Krijt
Classical homocystinuria (HCU) is an inborn error of sulfur amino acid metabolism caused by deficient activity of cystathionine β-synthase (CBS), resulting in an accumulation of homocysteine and a concomitant decrease of cystathionine and cysteine i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea841549e33c4713f7ec2bf7c5446868
Autor:
Teodoro Bottiglieri, Insun Park, Tomas Majtan, Erez M. Bublil, Erland Arning, Frank Glavin, Jan P. Kraus
Aims PEGylated human truncated cystathionine beta-synthase, lacking the C-terminal regulatory domain (PEG-CBS), is a promising preclinical candidate for enzyme replacement therapy in homocystinuria (HCU). It was designed to function as a metabolic si
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e85f554d346d2dae92a08d3e4761912c