(Q35032688)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21497120%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

title

The MMACHC proteome: hallmarks of functional cobalamin deficiency in humans (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21497120%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21497120%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

author name string

Patricia M DiBello

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21497120%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Michelle Yu

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21497120%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Abby Miller

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21497120%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Sihe Wang

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21497120%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Belinda Willard

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21497120%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

David S Rosenblatt

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21497120%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Donald W Jacobsen

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21497120%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

publication date

24 March 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21497120%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

28 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21497120%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

volume

103

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21497120%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21497120%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

page(s)

226-239

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21497120%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

28 January 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3110603/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Protein folding stress in neurodegenerative diseases: a glimpse into the ER.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

Converging pathways in the occurrence of endoplasmic reticulum (ER) stress in Huntington's disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

Epigenetic modification of the gene for the vitamin B(12) chaperone MMACHC can result in increased tumorigenicity and methionine dependence

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

Accurate assessment and identification of naturally occurring cellular cobalamins.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

Decyanation of vitamin B12 by a trafficking chaperone

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

The response of human colonocytes to folate deficiency in vitro: functional and proteomic analyses

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

The human PDI family: versatility packed into a single fold.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

Evolution of the peroxiredoxins.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

Folate deficiency in normal human fibroblasts leads to altered expression of genes primarily linked to cell signaling, the cytoskeleton and extracellular matrix.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

Molecular mechanisms involved in Ras inactivation: the annexin A6-p120GAP complex.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

Protein misfolding disorders: pathogenesis and intervention

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

Annexins: linking Ca2+ signalling to membrane dynamics

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

The development of the DIGE system: 2D fluorescence difference gel analysis technology

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

Late-onset thrombocytic microangiopathy caused by cblC disease: association with a factor H mutation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

Interrelations of vitamin B12 and folic acid metabolism: folic acid clearance studies

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

Long-term outcome in treated combined methylmalonic acidemia and homocystinemia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

Characterization of the human dihydropyrimidinase-related protein 2 (DRP-2) gene

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

Structure, function and regulation of the vacuolar (H+)-ATPase

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

The human vigilin gene: identification, chromosomal localization and expression pattern

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

Annexins: the problem of assessing the biological role for a gene family of multifunctional calcium- and phospholipid-binding proteins

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

Rapid HPLC determination of total homocysteine and other thiols in serum and plasma: sex differences and correlation with cobalamin and folate concentrations in healthy subjects.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

Isolation of PGP 9.5, a new human neurone-specific protein detected by high-resolution two-dimensional electrophoresis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

Nucleotide sequence of the human vimentin gene and regulation of its transcription in tissues and cultured cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

The immunolocalization of protein gene product 9.5 using rabbit polyclonal and mouse monoclonal antibodies.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

Mitochondrial metabolism of hydroxocobalamin: Synthesis of adenosylcobalamin by intact rat liver mitochondria

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

Diversity of glutathione s-transferase omega 1 (a140d) and 2 (n142d) gene polymorphisms in worldwide populations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

Hepatoprotective effect of vitamin B12 on dimethylnitrosamine-induced liver injury

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

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

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

Redox proteomics identification of oxidatively modified brain proteins in inherited Alzheimer's disease: an initial assessment.

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex.

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

Determining a significant change in protein expression with DeCyder during a pair-wise comparison using two-dimensional difference gel electrophoresis

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

Oxidative modifications and down-regulation of ubiquitin carboxyl-terminal hydrolase L1 associated with idiopathic Parkinson's and Alzheimer's diseases

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

The role of pathogenic DJ-1 mutations in Parkinson's disease.

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

Potential for misdiagnosis due to lack of metabolic derangement in combined methylmalonic aciduria/hyperhomocysteinemia (cblC) in the neonate

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

Proteomic identification of oxidatively modified proteins in Alzheimer's disease brain. Part II: dihydropyrimidinase-related protein 2, alpha-enolase and heat shock cognate 71.

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

Upregulation of smooth muscle cell collagen production by homocysteine-insight into the pathogenesis of homocystinuria

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

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

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

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

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110603

Cobalamin C mutation (methylmalonic aciduria and homocystinuria) in adolescence. A treatable cause of dementia and myelopathy

25 October 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.008

Reversible dementia in an adolescent with cblC disease: clinical heterogeneity within the same family

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.008

Quantitative Analysis of Mitochondrial Protein Expression in Methylmalonic Acidemia by Two-Dimensional Difference Gel Electrophoresis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.008

Homocysteine as a risk factor for vascular disease. Enhanced collagen production and accumulation by smooth muscle cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.03.008

Uptake of hydroxocobalamin by rat liver mitochondria. Binding to a mitochondrial protein

7 January 2021

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21497120

12 December 2020

inferred from PubMed ID database lookup

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21497120

12 December 2020

inferred from PubMed ID database lookup

Quantitative analysis for organic acids in biological samples: batch isolation followed by gas chromatographic-mass spectrometric analysis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21497120

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1016/J.YMGME.2011.03.008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21497120%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21497120%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

PubMed publication ID

21497120

1 reference