(Q35188329)

7 August 2017

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title

Carnitine transport: pathophysiology and metabolism of known molecular defects (English)

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7 August 2017

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I Tein

1

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7 August 2017

publication date

1 January 2003

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Journal of Inherited Metabolic Disease

7 August 2017

published in

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7 August 2017

volume

26

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7 August 2017

issue

2-3

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7 August 2017

page(s)

147-169

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Metabolic fate of dietary carnitine in human adults: identification and quantification of urinary and fecal metabolites

7 August 2017

cites work

1 reference

12 December 2020

Valproic acid hepatic fatalities: a retrospective review

1 reference

12 December 2020

Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency

1 reference

12 December 2020

Evidence for linkage of human primary systemic carnitine deficiency with D5S436: a novel gene locus on chromosome 5q

1 reference

12 December 2020

Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency

1 reference

12 December 2020

Primary carnitine deficiency: Heterozygote and intrafamilial phenotypic variation

1 reference

12 December 2020

The Effect of Carnitine on Ketogenesis in Perfused Livers from Juvenile Visceral Steatosis Mice with Systemic Carnitine Deficiency

1 reference

12 December 2020

Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2

1 reference

12 December 2020

Mechanisms mediating renal secretion of organic anions and cations

1 reference

12 December 2020

A missense mutation of mouse OCTN2, a sodium-dependent carnitine cotransporter, in the juvenile visceral steatosis mouse

1 reference

12 December 2020

Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency

1 reference

12 December 2020

Organic cation/carnitine transporter, OCTN2, is differentially expressed in the adult rat epididymis

1 reference

12 December 2020

Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency

1 reference

12 December 2020

Hereditary defect in carnitine membrane transport is expressed in skin fibroblasts

1 reference

12 December 2020

A novel gene suppressed in the ventricle of carnitine-deficient juvenile visceral steatosis mice

1 reference

12 December 2020

Valproic acid associated abnormalities of carnitine metabolism

1 reference

12 December 2020

Molecular characterization of carnitine-dependent transport of acetyl-CoA from peroxisomes to mitochondria in Saccharomyces cerevisiae and identification of a plasma membrane carnitine transporter, Agp2p

1 reference

12 December 2020

Structural and functional characteristics and tissue distribution pattern of rat OCTN1, an organic cation transporter, cloned from placenta

1 reference

12 December 2020

Role of carnitine and carnitine palmitoyltransferase as integral components of the pathway for membrane phospholipid fatty acid turnover in intact human erythrocytes.

1 reference

12 December 2020

A simple method for displaying the hydropathic character of a protein

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12 December 2020

Carnitine, valproate, and toxicity

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12 December 2020

The effect of a L-carnitine supplemented soybean formula on the plasma lipids of infants

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12 December 2020

Hypocarnitinemia in the handicapped individuals who receive a polypharmacy of antiepileptic drugs

1 reference

12 December 2020

2 references

12 December 2020

Crossref

https://api.crossref.org/works/10.1023%2FA%3A1024481016187

7 January 2021

inferred from DOI database lookup

Primary defect of juvenile visceral steatosis (jvs) mouse with systemic carnitine deficiency is probably in renal carnitine transport system

1 reference

12 December 2020

Valproate toxicity and ornithine carbamoyltransferase deficiency

1 reference

12 December 2020

Characterization of carnitine transport in isolated perfused adult rat hearts

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12 December 2020

Serum carnitine during valproic acid therapy

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12 December 2020

The high incidence of valproate hepatotoxicity in infants may relate to familial metabolic defects.

1 reference

12 December 2020

Specificity of transporters for 'organic anions' and 'organic cations' in the kidney

1 reference

12 December 2020

Prophylaxis of early ventricular fibrillation by inhibition of acylcarnitine accumulation

1 reference

12 December 2020

Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.

1 reference

12 December 2020

Carnitine uptake defect: frameshift mutations in the human plasmalemmal carnitine transporter gene

1 reference

12 December 2020

Dysfunctions of the epididymis as a result of primary carnitine deficiency in juvenile visceral steatosis mice

1 reference

12 December 2020

Enhanced uptake of carnitine by perfused rat liver following starvation

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12 December 2020

gamma-Butyrobetaine hydroxylase activity is not rate limiting for carnitine biosynthesis in the human infant

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12 December 2020

The effects of valproate on intermediary metabolism in isolated rat hepatocytes and intact rats

1 reference

12 December 2020

Muscle carnitine deficiency in patients using valproic acid

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12 December 2020

Hepatotoxicity in rat following administration of valproic acid: effect of L-carnitine supplementation

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12 December 2020

Carnitine deficiency associated with anticonvulsant therapy

1 reference

12 December 2020

Functional characteristics and tissue distribution pattern of organic cation transporter 2 (OCTN2), an organic cation/carnitine transporter

1 reference

12 December 2020

Carnitine deficiency induced by pivampicillin and pivmecillinam therapy

2 references

12 December 2020

Crossref

https://api.crossref.org/works/10.1023%2FA%3A1024481016187

7 January 2021

inferred from DOI database lookup

Mitochondrial metabolism of valproic acid

1 reference

12 December 2020

Mapping of jvs (juvenile visceral steatosis) gene, which causes systemic carnitine deficiency in mice, on chromosome 11

1 reference

12 December 2020

Influence of valproic acid on hepatic carbohydrate and lipid metabolism

1 reference

12 December 2020

Cloning and characterization of a novel human pH-dependent organic cation transporter, OCTN1

1 reference

12 December 2020

Increased expression of carnitine palmitoyltransferase I gene is repressed by administering L-carnitine in the hearts of carnitine-deficient juvenile visceral steatosis mice

1 reference

12 December 2020

Sudden neonatal death in carnitine transporter deficiency.

1 reference

12 December 2020

Molecular and functional characterization of organic cation/carnitine transporter family in mice

1 reference

12 December 2020

Characterization of the human plasmalemmal carnitine transporter in cultured skin fibroblasts

1 reference

12 December 2020

Carnitine--metabolism and functions

2 references

12 December 2020

Crossref

https://api.crossref.org/works/10.1023%2FA%3A1024481016187

7 January 2021

inferred from DOI database lookup

Functional and pharmacological characterization of human Na(+)-carnitine cotransporter hOCTN2.

1 reference

12 December 2020

Infantile disease with microvesicular fatty infiltration of viscera spontaneously occurring in the C3H-H-2° strain of mouse with similarities to Reye's syndrome

1 reference

12 December 2020

Deficient Muscle Carnitine Transport in Primary Carnitine Deficiency

1 reference

12 December 2020

Low carnitine intake and altered lipid metabolism in infants

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12 December 2020

Molecular enzymology of carnitine transfer and transport

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12 December 2020

Reversal of valproic acid-associated impairment of carnitine uptake in cultured human skin fibroblasts

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12 December 2020

Carnitine function and requirements during the life cycle

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12 December 2020

New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency

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12 December 2020

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12 December 2020

Carnitine movement across muscle cell membranes. Studies in isolated rat muscle

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12 December 2020

beta-lactam antibiotics as substrates for OCTN2, an organic cation/carnitine transporter

1 reference

12 December 2020

Cardiomegaly in the juvenile visceral steatosis (JVS) mouse is reduced with acute elevation of heart short-chain acyl-carnitine level after L-carnitine injection

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12 December 2020

Hydroxylation of γ-butyrobetaine to carnitine in human and monkey tissues

1 reference

12 December 2020

Reye-like syndrome associated with valproic acid therapy

1 reference

12 December 2020

Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter

1 reference

12 December 2020

Kinetic compartmental analysis of carnitine metabolism in the human carnitine deficiency syndromes. Evidence for alterations in tissue carnitine transport

1 reference

12 December 2020

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

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12 December 2020

The pharmacology of carnitine

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12 December 2020

Tissue distribution of carnitine biosynthetic enzymes in man

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12 December 2020

Active transport of butyrobetaine and carnitine into isolated liver cells

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12 December 2020

The hepatotoxicity of valproic acid and its metabolites in rats. I. Toxicologic, biochemical and histopathologic studies

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12 December 2020

Carnitine transport in cultured muscle cells and skin fibroblasts from patients with primary systemic carnitine deficiency

1 reference

12 December 2020

Valproic acid impairs carnitine uptake in cultured human skin fibroblasts. An in vitro model for the pathogenesis of valproic acid-associated carnitine deficiency

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12 December 2020

Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy

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12 December 2020

Decreased serum carnitine in valproate induced Reye syndrome

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12 December 2020

Heterozygotes for plasmalemmal carnitine transporter defect are at increased risk for valproic acid-associated impairment of carnitine uptake in cultured human skin fibroblasts

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12 December 2020

The uptake of carnitine by slices of rat cerebral cortex

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12 December 2020

Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality

1 reference

12 December 2020

Na(+)-dependent carnitine transport by organic cation transporter (OCTN2): its pharmacological and toxicological relevance

1 reference

12 December 2020

Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts

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12 December 2020

Guanidine transport in a human choriocarcinoma cell line (JAR).

1 reference

12 December 2020

Na(+)-coupled transport of L-carnitine via high-affinity carnitine transporter OCTN2 and its subcellular localization in kidney

1 reference

12 December 2020

Mitochondrial abnormalities in a murine model of primary carnitine deficiency. Systemic pathology and trial of replacement therapy

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12 December 2020

Valproylcarnitine: a novel drug metabolite identified by fast atom bombardment and thermospray liquid chromatography-mass spectrometry

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12 December 2020

A heterozygote phenotype is present in the jvs +/- mutant mouse livers

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12 December 2020

1 reference

12 December 2020

Carnitine status in Reye and Reye-like syndromes

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12 December 2020

Primary systemic carnitine deficiency. II. Renal handling of carnitine

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12 December 2020

Transport of carnitine into cells in hereditary carnitine deficiency

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12 December 2020

Active transport of carnitine into skeletal muscle

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12 December 2020

Inborn errors of metabolism diagnosed in sudden death cases by acylcarnitine analysis of postmortem bile

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12 December 2020

Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency

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12 December 2020

GFP-Human high-affinity carnitine transporter OCTN2 protein: subcellular localization and functional restoration of carnitine uptake in mutant cell lines with the carnitine transporter defect

1 reference

12 December 2020

Inhibition by valproic acid of pyruvate uptake by brain mitochondria

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12 December 2020

Carnitine transport defect in fibroblasts of juvenile visceral steatosis (JVS) mouse

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12 December 2020

Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency

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12 December 2020

Inhibitory effects of sodium valproate on oxidative phosphorylation

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12 December 2020

Effect of L-carnitine treatment for valproate-induced hepatotoxicity

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12 December 2020

Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation

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12 December 2020

Inhibition of oxidative phosphorylation in hepatic and cerebral mitochondria of sodium valproate-treated rats

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12 December 2020

Effect of chronic valproic acid treatment on plasma and urine carnitine levels in children: decreased urinary excretion

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12 December 2020

Animal model of systemic carnitine deficiency: analysis in C3H-H-2 degrees strain of mouse associated with juvenile visceral steatosis

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12 December 2020

cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family

1 reference

12 December 2020

Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake

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12 December 2020

l-Carnitine uptake by mouse brain synaptosomal preparations: Competitive inhibition by GABA

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12 December 2020

The human plasmalemmal carnitine transporter defect is expressed in cultured lymphoblasts: a new non-invasive method for diagnosis

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12 December 2020

Novel membrane transporter OCTN1 mediates multispecific, bidirectional, and pH-dependent transport of organic cations

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12 December 2020

Potentiation of free radical-induced lipid peroxidative injury to sarcolemmal membranes by lipid amphiphiles

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12 December 2020

Studies on functional sites of organic cation/carnitine transporter OCTN2 (SLC22A5) using a Ser467Cys mutant protein

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12 December 2020

The P-loop--a common motif in ATP- and GTP-binding proteins

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12 December 2020

Effects of SKF525A, phenobarbital, fasting, and carnitine on the anticonvulsant activity and neurotoxicity of valproate in mice.

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12 December 2020

Carnitine transport by rat kidney cortex slices: Stimulation by dibutyryl cyclic AMP

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12 December 2020

Carnitine transport in isolated adult rat heart myocytes and the effect of 7,8-diOH chlorpromazine.

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12 December 2020

Properties of carnitine transport in rat kidney cortex slices

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12 December 2020

A missense mutation in the OCTN2 gene associated with residual carnitine transport activity

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12 December 2020

Structure of renal organic anion and cation transporters

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12 December 2020

Sodium gradient-stimulated transport of L-carnitine into renal brush border membrane vesicles: kinetics, specificity, and regulation by dietary carnitine

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12 December 2020

Specificity and characteristics of the carnitine transport in human heart cells (CCL 27) in culture

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12 December 2020

Identifiers

DOI

10.1023/A:1024481016187

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Dimensions Publication ID

7 August 2017

1042633968

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