(Q34516657)

2 August 2017

title

Glycosylation of the OCTN2 carnitine transporter: study of natural mutations identified in patients with primary carnitine deficiency (English)

1 reference

2 August 2017

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Cristina Amat di San Filippo

series ordinal

1

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2 August 2017

Orly Ardon

series ordinal

2

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2 August 2017

Nicola Longo

series ordinal

3

1 reference

2 August 2017

language of work or name

English

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publication date

29 November 2010

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Biochimica et Biophysica Acta

2 August 2017

published in

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2 August 2017

volume

1812

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2 August 2017

issue

3

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2 August 2017

page(s)

312-320

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Molecular insights into the structure-function relationship of organic anion transporters OATs

2 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026072

Disorders of carnitine transport and the carnitine cycle

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026072

Functional influence of N-glycosylation in OCT2-mediated tetraethylammonium transport

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026072

The role of N-linked glycosylation in protein folding, membrane targeting, and substrate binding of human organic anion transporter hOAT4.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026072

Role of glycosylation in the organic anion transporter OAT1

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026072

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026072

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026072

Molecular and physiological evidence for multifunctionality of carnitine/organic cation transporter OCTN2.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026072

Structure of renal organic anion and cation transporters

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026072

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026072

Mutations in novel organic cation transporter (OCTN2), an organic cation/carnitine transporter, with differential effects on the organic cation transport function and the carnitine transport function

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026072

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026072

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026072

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026072

Pharmacological rescue of carnitine transport in primary carnitine deficiency.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026072

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026072

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3026072

Expanded newborn screening identifies maternal primary carnitine deficiency

27 October 2018

1 reference

12 December 2020

OCTN2VT, a splice variant of OCTN2, does not transport carnitine because of the retention in the endoplasmic reticulum caused by insertion of 24 amino acids in the first extracellular loop of OCTN2

1 reference

12 December 2020

Abnormal sodium stimulation of carnitine transport in primary carnitine deficiency

1 reference

12 December 2020

Functional characterization of the carnitine transporter defective in primary carnitine deficiency

1 reference

12 December 2020

10.1016/J.BBADIS.2010.11.007

Identifiers

DOI

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2 August 2017

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2 August 2017

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