(Q35722004)

9 August 2017

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title

Lysinuric protein intolerance: mechanisms of pathophysiology (English)

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lysinuric protein intolerance

9 August 2017

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1 reference

Manuel Palacín

1

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9 August 2017

Joan Bertran

2

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9 August 2017

Josep Chillarón

3

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9 August 2017

Raúl Estévez

4

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9 August 2017

Antonio Zorzano

5

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9 August 2017

publication date

1 April 2004

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Molecular Genetics and Metabolism

9 August 2017

published in

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9 August 2017

volume

81 Suppl 1

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9 August 2017

page(s)

S27-37

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Protein intolerance with deficient transport of basic aminoacids. Another inborn error of metabolism

9 August 2017

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1 reference

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7 January 2021

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The molecular bases of cystinuria and lysinuric protein intolerance.

7 January 2021

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7 January 2021

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Heteromeric amino acid transporters: biochemistry, genetics, and physiology

7 January 2021

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Evaluation of a mass screening program for lysinuric protein intolerance in the northern part of Japan

7 January 2021

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Lysinuric protein intolerance

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Familial Protein Intolerance with Deficient Transport of Basic Amino Acids: An Analysis of 10 Patients

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Congenital lysinuria: A new inherited transport disorder of dibasic amino acids

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Hyperdibasicaminoaciduria, hyperammonemia, and growth retardation: Treatment with arginine, lysine, and citrulline

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Lysinuric protein intolerance: a two-year trial of dietary supplementation therapy with citrulline and lysine

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Oral administration of epsilon N-acetyllysine and homocitrulline in lysinuric protein intolerance

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Oral supplementation corrects plasma lysine concentrations in lysinuric protein intolerance

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Pulmonary manifestations in lysinuric protein intolerance

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Role of haematological, pulmonary and renal complications in the long-term prognosis of patients with lysinuric protein intolerance

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Immunological abnormalities in a patient with lysinuric protein intolerance

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

New glycoprotein-associated amino acid transporters

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Surface antigen CD98(4F2): not a single membrane protein, but a family of proteins with multiple functions

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Heteromeric amino acid transporters explain inherited aminoacidurias

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Glycoprotein-associated amino acid exchangers: broadening the range of transport specificity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

The light subunit of system b(o,+) is fully functional in the absence of the heavy subunit

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Organic ion transport during seven decades. The amino acids

7 January 2021

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Role of amino acid transport and countertransport in nutrition and metabolism

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

The transport of cationic amino acids across the plasma membrane of mammalian cells

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Amino acid transport in developing animal oocytes and early conceptuses

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Identification of a new transport system (y+L) in human erythrocytes that recognizes lysine and leucine with high affinity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Transport of cationic amino acids by the mouse ecotropic retrovirus receptor.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Cell-surface receptor for ecotropic murine retroviruses is a basic amino-acid transporter.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Transporters for cationic amino acids in animal cells: discovery, structure, and function

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Amino acid transport system y+L of human erythrocytes: specificity and cation dependence of the translocation step.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Membrane potential dependence of the kinetics of cationic amino acid transport systems in human placenta

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Obligatory amino acid exchange via systems bo,+-like and y+L-like. A tertiary active transport mechanism for renal reabsorption of cystine and dibasic amino acids.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Characteristics of lysine transport across the serosal pole of the anuran small intestine

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Basolateral LAT-2 has a major role in the transepithelial flux of L-cystine in the renal proximal tubule cell line OK.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Stimulation of system y(+)-like amino acid transport by the heavy chain of human 4F2 surface antigen in Xenopus laevis oocytes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

The amino acid transport system y+L/4F2hc is a heteromultimeric complex.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Amino-acid transport by heterodimers of 4F2hc/CD98 and members of a permease family

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Expression cloning and characterization of a transporter for large neutral amino acids activated by the heavy chain of 4F2 antigen (CD98)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

The heterodimeric amino acid transporter 4F2hc/y+LAT2 mediates arginine efflux in exchange with glutamine

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Amino acid transport of y+L-type by heterodimers of 4F2hc/CD98 and members of the glycoprotein-associated amino acid transporter family

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Lysinuric protein intolerance mutation is not expressed in the plasma membrane of erythrocytes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Cationic amino acid transport through system y+L in erythrocytes of patients with lysinuric protein intolerance

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Arginine transport through system y(+)L in cultured human fibroblasts: normal phenotype of cells from LPI subjects

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Transport properties of a system y+L neutral and basic amino acid transporter. Insights into the mechanisms of substrate recognition.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Functional cooperation of epithelial heteromeric amino acid transporters expressed in madin-darby canine kidney cells.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Genetic homogeneity of lysinuric protein intolerance

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Expression of normal and mutant GFP-tagged y(+)L amino acid transporter-1 in mammalian cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Biochemical and genetic studies in cystinuria: observations on double heterozygotes of genotype I/II

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Renal Handling of Diamino Acids in Lysinuric Protein Intolerance

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

rBAT-b(0,+)AT heterodimer is the main apical reabsorption system for cystine in the kidney

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Lysine fluxes across the jejunal epithelium in lysinuric protein intolerance

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Lysinuric protein intolerance. Basolateral transport defect in renal tubuli

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Basolateral-membrane transport defect for lysine in lysinuric protein intolerance

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Intestinal absorption in lysinuric protein intolerance: impaired for diamino acids, normal for citrulline

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Intestinal peptide transport: ex vivo uptake studies and localization of peptide carrier PEPT1.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Intestinal transport of dipeptides in man: relative importance of hydrolysis and intact absorption

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Intestinal Absorption of Oligopeptides in Cystinuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Cystinuria: reduced lysine permeability at the brush border of intestinal membrane cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Enzymes of Urea Synthesis in Familial Protein Intolerance with Deficient Transport of Basic Amino Acids

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Leukocyte and liver glutaminase in lysinuric protein intolerance

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Ornithinemia, hyperammonemia, and homocitrullinuria. A disease associated with mental retardation and possibly caused by defective mitochondrial transport

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

The purified and reconstituted ornithine/citrulline carrier from rat liver mitochondria: electrical nature and coupling of the exchange reaction with H+ translocation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

"Basolateral" and mitochondrial membrane transport defect in the hepatocytes in lysinuric protein intolerance

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Functional analysis of mutations in SLC7A9, and genotype–phenotype correlation in non-Type I cystinuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

Homozygosity mapping to chromosome 5p15 of a gene responsible for Hartnup disorder

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.11.015

10.1016/J.YMGME.2003.11.015

7 January 2021

Identifiers

DOI

1 reference

9 August 2017

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