(Q37071383)

18 August 2017

Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice (English)

1 reference

18 August 2017

Sapna Gupta

1

1 reference

18 August 2017

Liqun Wang

2

1 reference

18 August 2017

Xiang Hua

3

1 reference

18 August 2017

Jakub Krijt

4

1 reference

18 August 2017

Viktor Kozich

5

1 reference

18 August 2017

Warren D Kruger

6

1 reference

18 August 2017

1 August 2008

1 reference

18 August 2017

1 reference

18 August 2017

29

1 reference

18 August 2017

8

1 reference

18 August 2017

1048-1054

1 reference

Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630375

The role of cystathionine beta-synthase in homocysteine metabolism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630375

CHIP: a link between the chaperone and proteasome systems

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630375

High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630375

Regulation of human cystathionine beta-synthase by S-adenosyl-L-methionine: evidence for two catalytically active conformations involving an autoinhibitory domain in the C-terminal region

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630375

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630375

Cystathionine beta-synthase mutations in homocystinuria

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630375

Distal regulatory elements from the mouse metallothionein locus stimulate gene expression in transgenic mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630375

Human cystathionine beta-synthase cDNA: sequence, alternative splicing and expression in cultured cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630375

Mice deficient in cystathionine beta-synthase: animal models for mild and severe homocyst(e)inemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630375

Cloning and screening with nanogram amounts of immunopurified mRNAs: cDNA cloning and chromosomal mapping of cystathionine beta-synthase and the beta subunit of propionyl-CoA carboxylase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630375

Modulation of cystathionine beta-synthase level regulates total serum homocysteine in mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630375

Measurement of homocysteine and other aminothiols in plasma: advantages of using tris(2-carboxyethyl)phosphine as reductant compared with tri-n-butylphosphine.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630375

Intermediate and severe hyperhomocysteinemia with thrombosis: a study of genetic determinants.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2630375

Evidence for heme-mediated redox regulation of human cystathionine beta-synthase activity

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18454451

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.20773

1 reference

18 August 2017

1 reference

18 August 2017

PubMed publication ID

18454451

1 reference