Molecular characterization of inherited carnitine palmitoyltransferase II deficiency (Q24564061)

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5 October 2022

5

G. Finocchiaro

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8

C. Gellera

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5 October 2022

author name string

F. Taroni

1

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5 October 2022

E. Verderio

2

1 reference

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S. Fiorucci

3

1 reference

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G. Uziel

6

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E. Lamantea

7

1 reference

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S. DiDonato

9

1 reference

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full work available at URL

5 October 2022

language of work or name

English

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publication date

15 September 1992

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https://europepmc.org/articles/PMC49933

1 reference

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https://europepmc.org/articles/PMC49933?pdf=render

5 October 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

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Proceedings of the National Academy of Sciences of the United States of America

5 October 2022

published in

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volume

89

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page(s)

8429-33

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issue

18

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cites work

Lipofection: a highly efficient, lipid-mediated DNA-transfection procedure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49933

cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49933

cDNA cloning, sequence analysis, and chromosomal localization of human carnitine palmitoyltransferase

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49933

DNA sequencing with chain-terminating inhibitors

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49933

A simple salting out procedure for extracting DNA from human nucleated cells

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49933

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49933

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49933

Cloning, sequencing, and expression of a cDNA encoding rat liver mitochondrial carnitine palmitoyltransferase II

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49933

Statistical estimations in enzyme kinetics

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49933

An LFA-3 cDNA encodes a phospholipid-linked membrane protein homologous to its receptor CD2

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49933

Heterogeneity of carnitine-palmitoyltransferase deficiency

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49933

Liver mitochondria contain an ATP-dependent, vanadate-sensitive pathway for the degradation of proteins

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49933

Mitochondrial import and processing of mutant human ornithine transcarbamylase precursors in cultured cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49933

Regulation of ketogenesis and the renaissance of carnitine palmitoyltransferase

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49933

Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49933

The precursor of the biotin-binding subunit of mammalian propionyl-CoA carboxylase can be translocated into mitochondria as apo- or holoprotein

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49933

Avoiding strand reassociation in direct sequencing of double-stranded PCR products with thermolabile polymerases

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49933

Hepatic and Muscular Presentations of Carnitine Palmitoyl Transferase Deficiency: Two Distinct Entities

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49933

Normalization of short-chain acylcoenzyme A dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme A dehydrogenase-deficient myopathy

28 November 2018

1 reference

12 December 2020

[72] Identification of regulatory elements of cloned genes with functional assays

1 reference

12 December 2020

Muscle carnitine palmityltransferase deficiency: a case with enzyme deficiency in cultured fibroblasts

1 reference

12 December 2020

Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II

1 reference

12 December 2020

Inter-tissue and inter-species characteristics of the mitochondrial carnitine palmitoyltransferase enzyme system

1 reference

12 December 2020

Regulatory properties of a mutant carnitine palmitoyltransferase in human skeletal muscle

1 reference

12 December 2020