Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient (Q28115954)

GOA release 2020-03-11

author name string

M. Huizing

1

1 reference

4 January 2017

V. Iacobazzi

2

1 reference

4 January 2017

L. Ijlst

3

1 reference

4 January 2017

P. Savelkoul

4

1 reference

4 January 2017

W. Ruitenbeek

5

1 reference

4 January 2017

L. van den Heuvel

6

1 reference

4 January 2017

C. Indiveri

7

1 reference

4 January 2017

J. Smeitink

8

1 reference

4 January 2017

F. Trijbels

9

1 reference

4 January 2017

R. Wanders

10

1 reference

4 January 2017

F. Palmieri

American Journal of Human Genetics

11

1 reference

4 January 2017

language of work or name

English

0 references

publication date

1 December 1997

1 reference

4 January 2017

1 reference

4 January 2017

61

1 reference

4 January 2017

6

1 reference

4 January 2017

1239–1245

1 reference

4 January 2017

Sequences of the human and bovine genes for the mitochondrial 2-oxoglutarate carrier

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716087

The sequences of human and bovine genes of the phosphate carrier from mitochondria contain evidence of alternatively spliced forms

20 March 2017

1 reference

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'Touchdown' PCR to circumvent spurious priming during gene amplification

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716087

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

20 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716087

20 March 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716087

Mitochondrial carrier proteins

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716087

Organization and sequence of the human gene for the mitochondrial citrate transport protein

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716087

The mitochondrial carnitine carrier protein: cDNA cloning, primary structure and comparison with other mitochondrial transport proteins

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716087

Energy-linked anion transport. Cloning, sequencing, and characterization of a full length cDNA encoding the rat liver mitochondrial proton/phosphate symporter

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716087

The mitochondrial tricarboxylate transport protein. cDNA cloning, primary structure, and comparison with other mitochondrial transport proteins

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716087

Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716087

The mitochondrial transport protein superfamily

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716087

Carnitine-acylcarnitine translocase deficiency: implications in human pathology

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716087

Disorders of mitochondrial long-chain fatty acid oxidation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716087

New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716087

Molecular basis of mitochondrial fatty acid oxidation defects

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716087

A mitochondrial carnitine acylcarnitine translocase system

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716087

Identification and purification of the carnitine carrier from rat liver mitochondria

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716087

Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716087

Differential diagnosis of hydroxydicarboxylic aciduria based on release of3H2O from [9,10‐3H]myristic and [9,10‐3H]palmitic acids by intact cultured fibroblasts

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716087

Identification by bacterial expression and functional reconstitution of the yeast genomic sequence encoding the mitochondrial dicarboxylate carrier protein.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716087

Cloning and sequencing of the rat cDNA encoding the mitochondrial 2-oxoglutarate carrier protein.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716087

Neonatal hyperammonemia caused by a defect of carnitine-acylcarnitine translocase

27 November 2018

1 reference

12 December 2020

A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency

1 reference

12 December 2020

The mechanism of fatty acid uptake by heart mitochondria: an acylcarnitine-carnitine exchange

1 reference

12 December 2020

Carnitine-acylcarnitine translocase catalyzes an equilibrating unidirectional transport as well

1 reference

12 December 2020

Carnitine:acylcarnitine translocase of rat heart mitochondria. Competition for carnitine uptake by carnitine esters

1 reference

12 December 2020

Mechanism of carnitine acylcarnitine translocase-catalyzed import of acylcarnitines into mitochondria

1 reference

12 December 2020

Kinetic characterization of the reconstituted carnitine carrier from rat liver mitochondria

1 reference

12 December 2020

The mitochondrial carnitine carrier: characterization of SH-groups relevant for its transport function

1 reference

12 December 2020

Inherited cardiomyopathies

1 reference

12 December 2020

Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis

1 reference

12 December 2020

Probing the active site of the reconstituted carnitine carrier from rat liver mitochondria with sulfhydryl reagents. A cysteine residue is localized in or near the substrate binding site

1 reference

12 December 2020

Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents

1 reference

12 December 2020

Identifiers

DOI

10.1086/301628

1 reference

1370499

1370499

1 reference

1 reference

1 reference