(Q50731810)

18 March 2018

title

Pharmacological rescue of carnitine transport in primary carnitine deficiency. (English)

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18 March 2018

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3

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18 March 2018

author name string

Cristina Amat di San Filippo

series ordinal

1

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18 March 2018

Marzia Pasquali

series ordinal

2

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18 March 2018

publication date

1 June 2006

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18 March 2018

published in

Human Mutation

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18 March 2018

volume

27

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18 March 2018

issue

6

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18 March 2018

page(s)

513-523

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18 March 2018

CFTR and chaperones: processing and degradation.

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7 January 2021

Functional Domains in the Carnitine Transporter OCTN2, Defective in Primary Carnitine Deficiency

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Tyrosine residues affecting sodium stimulation of carnitine transport in the OCTN2 carnitine/organic cation transporter

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Traffic jam: a compendium of human diseases that affect intracellular transport processes

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

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7 January 2021

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

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7 January 2021

Heteromeric amino acid transporters: biochemistry, genetics, and physiology

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Protein origami: therapeutic rescue of misfolded gene products

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Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene

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7 January 2021

Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects

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7 January 2021

Rescue of hypogonadotropic hypogonadism-causing and manufactured GnRH receptor mutants by a specific protein-folding template: misrouted proteins as a novel disease etiology and therapeutic target

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7 January 2021

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

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Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.

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Correction of the CF defect by curcumin: hypes and disappointments.

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Defects in Na+/glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorption

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome

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Sodium 4-phenylbutyrate downregulates Hsc70: implications for intracellular trafficking of DeltaF508-CFTR

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7 January 2021

Defective urinary carnitine transport in heterozygotes for primary carnitine deficiency

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Primary and secondary alterations of neonatal carnitine metabolism.

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7 January 2021

Functional characterization of the carnitine transporter defective in primary carnitine deficiency

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7 January 2021

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

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7 January 2021

Evidence against the rescue of defective DeltaF508-CFTR cellular processing by curcumin in cell culture and mouse models.

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7 January 2021

Silent and symptomatic primary carnitine deficiency within the same family due toidentical mutations in the organic cation/carnitine transporter OCTN2

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7 January 2021

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

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7 January 2021

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

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7 January 2021

A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients

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7 January 2021

Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: a treatable cardiomyopathy

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Abnormal sodium stimulation of carnitine transport in primary carnitine deficiency

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https://api.crossref.org/works/10.1002%2FHUMU.20314

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20314

7 January 2021

Phenotype and genotype variation in primary carnitine deficiency

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https://api.crossref.org/works/10.1002%2FHUMU.20314

7 January 2021

Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry

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7 January 2021

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

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7 January 2021

Identifiers

DOI

10.1002/HUMU.20314

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18 March 2018

PubMed ID

16652335

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18 March 2018