(Q30313571)

9 October 2017

1 reference

11 October 2019

Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical Features (English)

1 reference

carnitine palmitoyltransferase II deficiency

9 October 2017

0 references

inherited metabolic disorder

1 reference

11 October 2019

1 reference

11 October 2019

carnitine O-palmitoyltransferase

1 reference

28 September 2019

1 reference

11 October 2019

Dina Robaa

3

0 references

author name string

Diana Lehmann

series ordinal

1

1 reference

9 October 2017

Leila Motlagh

series ordinal

2

1 reference

9 October 2017

Stephan Zierz

series ordinal

4

1 reference

9 October 2017

language of work or name

English

0 references

publication date

3 January 2017

7 references

International Journal of Molecular Sciences

9 October 2017

13 March 2019

22 April 2019

25 April 2019

28 September 2019

6 October 2019

11 October 2019

7 references

9 October 2017

13 March 2019

22 April 2019

25 April 2019

28 September 2019

6 October 2019

11 October 2019

18

1 reference

9 October 2017

1

1 reference

Creative Commons Attribution

9 October 2017

6 references

13 March 2019

22 April 2019

25 April 2019

28 September 2019

6 October 2019

11 October 2019

0 references

on focus list of Wikimedia project

ScienceSource

0 references

cites work

Stabilization of the thermolabile variant S113L of carnitine palmitoyltransferase II.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5297716

Malony-CoA inhibits the S113L variant of carnitine-palmitoyltransferase II.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5297716

Abbreviated half-lives and impaired fuel utilization in carnitine palmitoyltransferase II variant fibroblasts

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5297716

Normal protein content but abnormally inhibited enzyme activity in muscle carnitine palmitoyltransferase II deficiency

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5297716

Carnitine palmitoyltransferase II (CPT II) deficiency: genotype-phenotype analysis of 50 patients

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5297716

Clinically symptomatic heterozygous carnitine palmitoyltransferase II (CPT II) deficiency

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5297716

Malonyl-CoA, a key signaling molecule in mammalian cells

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5297716

Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5297716

Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5297716

The crystal structure of carnitine palmitoyltransferase 2 and implications for diabetes treatment

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5297716

Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5297716

Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5297716

Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5297716

Muscular carnitine palmitoyltransferase II deficiency in infancy

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5297716

Carnitine palmitoyltransferase deficiencies

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5297716

Biochemical and molecular correlations in carnitine palmitoyltransferase II deficiency

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5297716

Human acetyl-CoA carboxylase 2. Molecular cloning, characterization, chromosomal mapping, and evidence for two isoforms

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5297716

Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5297716

Combined partial deficiency of muscle carnitine palmitoyltransferase and carnitine with autosomal dominant inheritance

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5297716

Observations on the affinity for carnitine, and malonyl-CoA sensitivity, of carnitine palmitoyltransferase I in animal and human tissues. Demonstration of the presence of malonyl-CoA in non-hepatic tissues of the rat

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5297716

Myoglobinuria and carnitine palmityltransferase (CPT) deficiency: studies with malonyl-CoA suggest absence of only CPT-II.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5297716

Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5297716

Molecular characterization of inherited carnitine palmitoyltransferase II deficiency

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5297716

Hepatic malonyl-CoA levels of fed, fasted and diabetic rats as measured using a simple radioisotopic assay

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5297716

Recurrent Myoglobinuria Due to Muscle Carnitine Palmityl Transferase Deficiency

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5297716

Familial recurrent rhabdomyolysis due to carnitine palmityl transferase deficiency

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5297716

Partial Deficiency of Muscle Carnitine Palmitoyltransferase with Normal Ketone Production

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5297716

A disorder of muscle lipid metabolism and myoglobinuria. Absence of carnitine palmityl transferase

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5297716

Carnitine palmityl transferase deficiency: clinical variability, carrier detection, and autosomal-recessive inheritance.

3 June 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS18010082

Partial deficiency of carnitine palmityltransferase: physiologic and biochemical consequences.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS18010082

"Adult" form of muscular carnitine palmitoyltransferase II deficiency: manifestation in a 2-year-old child

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS18010082

Genotype/phenotype correlation in carnitine palmitoyl transferase II deficiency: lessons from a compound heterozygous patient

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS18010082

Carnitine Deficiency of Human Skeletal Muscle with Associated Lipid Storage Myopathy: A New Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FIJMS18010082

Inhibition of carnitine palmitoyltransferase in normal human skeletal muscle and in muscle of patients with carnitine palmitoyltransferase deficiency by long- and short-chain acylcarnitine and acyl-coenzyme A.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5297716

Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency

26 November 2018

1 reference

12 December 2020

Mutant carnitine palmitoyltransferase associated with myoadenylate deaminase deficiency in skeletal muscle.

1 reference

12 December 2020

Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency

1 reference

12 December 2020

Immunoquantitation of carnitine palmitoyl transferase in skeletal muscle of 31 patients

1 reference

12 December 2020

Biochemical evidence for heterozygosity in muscular carnitine palmitoyltransferase deficiency

1 reference

12 December 2020

Expanding mutation spectrum in CPT II gene: identification of four novel mutations

1 reference

12 December 2020

Limited trypsin proteolysis renders carnitine palmitoyltransferase insensitive to inhibition by malonyl-CoA in patients with muscle carnitine palmitoyltransferase deficiency

1 reference

12 December 2020

Regulatory properties of a mutant carnitine palmitoyltransferase in human skeletal muscle

1 reference

12 December 2020

A case of carnitine palmitoyltransferase II deficiency in human skeletal muscle

1 reference

12 December 2020

Molecular analysis in Spanish patients with muscle carnitine palmitoyltransferase deficiency

1 reference

12 December 2020

Identifiers

DOI

10.3390/IJMS18010082

1 reference

9 October 2017

1 reference

9 October 2017

1 reference