(Q36088268)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17540596%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

title

Chemical chaperone rescue of mutant human cystathionine beta-synthase (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17540596%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

0 references

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17540596%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

author name string

Laishram R Singh

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17540596%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Xulin Chen

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17540596%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

Warren D Kruger

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17540596%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

publication date

30 May 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17540596%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

31 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17540596%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

volume

91

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17540596%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17540596%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

page(s)

335-342

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17540596%20AND%20SRC:MED&resulttype=core&format=json

Rescue of vasopressin V2 receptor mutants by chemical chaperones: specificity and mechanism

31 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040066

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040066

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040066

Structure of human cystathionine beta-synthase: a unique pyridoxal 5'-phosphate-dependent heme protein

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040066

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040066

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040066

Pharmacological chaperones: a new twist on receptor folding.

2 October 2017

1 reference

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Osmotherapy for elevated intracranial pressure: a critical reappraisal

2 October 2017

1 reference

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Protein misfolding and degradation in genetic diseases.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040066

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.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040066

Cystathionine beta-synthase mutations in homocystinuria

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040066

Osmolyte-driven contraction of a random coil protein

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040066

Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040066

Correction of disease-causing CBS mutations in yeast

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040066

Genetic selection of intragenic suppressor mutations that reverse the effect of common p53 cancer mutations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040066

Alteration of T4 lysozyme structure by second-site reversion of deleterious mutations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040066

A natural polymorphism in beta-lactamase is a global suppressor

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040066

A yeast system for expression of human cystathionine beta-synthase: structural and functional conservation of the human and yeast genes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040066

Genetic analysis of staphylococcal nuclease: identification of three intragenic "global" suppressors of nuclease-minus mutations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040066

Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040066

Purification and properties of cystathionine beta-synthase from human liver. Evidence for identical subunits

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040066

A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040066

Osmolytes induce structure in an early intermediate on the folding pathway of barstar

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040066

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040066

Human Gene Mutation Database (HGMD): 2003 update.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040066

NETASA: neural network based prediction of solvent accessibility.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040066

Natural osmolyte trimethylamine N-oxide corrects assembly defects of mutant branched-chain alpha-ketoacid decarboxylase in maple syrup urine disease

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040066

Glycerol increases the yield and activity of human phenylalanine hydroxylase mutant enzymes produced in a prokaryotic expression system.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040066

Glycerol reverses the misfolding phenotype of the most common cystic fibrosis mutation.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040066

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

23 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.011

Pre-exercise glycerol hydration improves cycling endurance time

7 January 2021

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.011

10.1016/J.YMGME.2007.04.011

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17540596%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17540596%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

1 reference