(Q34073575)

30 July 2017

title

Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder (English)

1 reference

30 July 2017

0 references

0 references

G Kochan

4

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author name string

D S Froese

1

1 reference

30 July 2017

S Healy

2

1 reference

30 July 2017

M McDonald

3

1 reference

30 July 2017

U Oppermann

5

1 reference

30 July 2017

F H Niesen

6

1 reference

30 July 2017

R A Gravel

7

1 reference

30 July 2017

publication date

15 February 2010

1 reference

Molecular Genetics and Metabolism

30 July 2017

published in

1 reference

30 July 2017

volume

100

1 reference

30 July 2017

issue

1

1 reference

30 July 2017

page(s)

29-36

1 reference

A human vitamin B12 trafficking protein uses glutathione transferase activity for processing alkylcobalamins

30 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923755

Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923755

Processing of alkylcobalamins in mammalian cells: A role for the MMACHC (cblC) gene product

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923755

Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923755

Crystal structure of human carbonic anhydrase-related protein VIII reveals the basis for catalytic silencing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923755

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923755

In vivo and in vitro examination of stability of primary hyperoxaluria-associated human alanine:glyoxylate aminotransferase

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923755

Decyanation of vitamin B12 by a trafficking chaperone

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923755

Gene identification for the cblD defect of vitamin B12 metabolism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923755

The use of differential scanning fluorimetry to detect ligand interactions that promote protein stability

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923755

5 July 2018

Crystalline Vitamin B12.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923755

B12 trafficking in mammals: A for coenzyme escort service

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923755

Chemical screening methods to identify ligands that promote protein stability, protein crystallization, and structure determination

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923755

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923755

Chemistry and enzymology of vitamin B12.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923755

Thermostability of firefly luciferases affects efficiency of detection by in vivo bioluminescence

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923755

Evaluation of fluorescence-based thermal shift assays for hit identification in drug discovery

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923755

The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923755

Structure of vitamin B12.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923755

High-density miniaturized thermal shift assays as a general strategy for drug discovery

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923755

Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923755

Biochemical and clinical response to hydroxocobalamin versus cyanocobalamin treatment in patients with methylmalonic acidemia and homocystinuria (cblC).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923755

Folate-responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923755

The methylcobalamin metabolism of cultured human fibroblasts

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923755

Inherited disorders of cobalamin metabolism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923755

Treatment of hydroxocobalamin-resistant methylmalonic acidaemia with adenosylcobalamin.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923755

Enzymologic studies on patients with methylmalonic aciduria: basis for a clinical trial of deoxyadenosylcobalamin in a hydroxocobalamin-unresponsive patient

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923755

Application of high-throughput isothermal denaturation to assess protein stability and screen for ligands

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923755

Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923755

Late-onset cobalamin-C disorder: a challenging diagnosis.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923755

Accurate redetermination of the X-ray structure and electronic bonding in adenosylcobalamin

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923755

Adult-onset combined methylmalonic aciduria and homocystinuria (cblC).

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923755

The ligand affinity of proteins measured by isothermal denaturation kinetics

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923755

Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC).

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923755

Purification of Anti-pernicious Anæmia Factors from Liver

28 October 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.02.005

pH and temperature-induced molten globule-like denatured states of equinatoxin II: a study by UV-melting, DSC, far- and near-UV CD spectroscopy, and ANS fluorescence

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.02.005

Vitamin B12 Concentrations in Human Tissues

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.02.005

Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patient

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.02.005

Treatment of the cbl B form of methylmalonic acidaemia with adenosylcobalamin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.02.005

Effect of vitamin B12 treatment on haptocorrin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.02.005

Cobalamin coenzyme synthesis in normal and mutant human fibroblasts. Evidence for a processing enzyme activity deficient in cblC cells

7 January 2021

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20219402

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Structure of cobamide coenzymes: influence of pH on absorption spectra and ionophoretic mobilities

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20219402

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2010.02.005

1 reference

30 July 2017

1 reference

30 July 2017

1 reference