Pathophysiology and treatment of cystinuria (Q37762155)

22 August 2017

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title

Pathophysiology and treatment of cystinuria (English)

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22 August 2017

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Joana Fort

3

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David S. Goldfarb

object named as

David S Goldfarb

5

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Virginia Nunes

object named as

Virginia Nunes

6

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author name string

Josep Chillarón

1

1 reference

22 August 2017

Mariona Font-Llitjós

2

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22 August 2017

Antonio Zorzano

4

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22 August 2017

Manuel Palacín

7

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22 August 2017

language of work or name

English

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publication date

1 June 2010

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Nature Reviews Nephrology

22 August 2017

published in

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22 August 2017

volume

6

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22 August 2017

issue

7

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22 August 2017

page(s)

424-434

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The genetics of heteromeric amino acid transporters

22 August 2017

cites work

1 reference

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Apical heterodimeric cystine and cationic amino acid transporter expressed in MDCK cells

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The molecular bases of cystinuria and lysinuric protein intolerance.

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CYSTINURIA: IN VITRO DEMONSTRATION OF AN INTESTINAL TRANSPORT DEFECT

31 March 2020

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CYSTINURIA: DEFECTIVE INTESTINAL TRANSPORT OF DIBASIC AMINO ACIDS AND CYSTINE.

31 March 2020

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Intestinal Absorption and Renal Extraction of Cystine and Cysteine in Cystinuria

31 March 2020

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Urolithiasis in pediatric patients

31 March 2020

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Molecular and integrative physiology of intestinal peptide transport

31 March 2020

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Localization of a gene causing cystinuria to chromosome 2p

31 March 2020

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

31 March 2020

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Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria

31 March 2020

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

31 March 2020

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Cystinuria: biochemical evidence for three genetically distinct diseases

31 March 2020

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New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Prospective analysis and classification of patients with cystinuria identified in a newborn screening program

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

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

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Mutation analysis of SLC7A9 in cystinuria patients in Sweden

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

An isolated defect of the tubular cystine reabsorption in a family with idiopathic hypoparathyroidism

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Isolated cystinuria (OMIM 238200) is not a separate entity but is caused by a mutation in the cystinuria gene SLC7A9

31 March 2020

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A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease

31 March 2020

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Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Multi-system disorder syndromes associated with cystinuria type I.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

The amino acid transporter asc-1 is not involved in cystinuria

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Search for mutations in SLC1A5 (19q13) in cystinuria patients

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Evidence for association of SLC7A9 gene haplotypes with cystinuria manifestation in SLC7A9 mutation carriers

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Cystinuria in the Maned Wolf of South America

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

A mouse model for cystinuria type I.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

CATs and HATs: the SLC7 family of amino acid transporters

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

The ancillary proteins of HATs: SLC3 family of amino acid transporters

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Expression cloning of a cDNA from rabbit kidney cortex that induces a single transport system for cystine and dibasic and neutral amino acids

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Expression cloning of a Na(+)-independent neutral amino acid transporter from rat kidney

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Identification and functional characterization of a novel low affinity aromatic-preferring amino acid transporter (arpAT). One of the few proteins silenced during primate evolution

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

CD98hc (SLC3A2) mediates integrin signaling.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

CD98hc facilitates B cell proliferation and adaptive humoral immunity

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Dependence of proliferative vascular smooth muscle cells on CD98hc (4F2hc, SLC3A2)

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

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.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

The rBAT gene is responsible for L-cystine uptake via the b0,(+)-like amino acid transport system in a "renal proximal tubular" cell line (OK cells).

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Lysine transport across the small intestine. Stimulating and inhibitory effects of neutral amino acids.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Transport of neutral and cationic amino acids across the brush-border membrane of the rabbit ileum.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

The renal handling of amino acids and oligopeptides

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Looking for the ancestry of the heavy-chain subunits of heteromeric amino acid transporters rBAT and 4F2hc within the GH13 alpha-amylase family

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

The structure of human 4F2hc ectodomain provides a model for homodimerization and electrostatic interaction with plasma membrane

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Structural determinants of product specificity of sucrose isomerases

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Substrate recognition mechanism of alpha-1,6-glucosidic linkage hydrolyzing enzyme, dextran glucosidase from Streptococcus mutans

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Crystal structure of GH13 alpha-glucosidase GSJ from one of the deepest sea bacteria

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

The refined crystal structure of Bacillus cereus oligo-1,6-glucosidase at 2.0 A resolution: structural characterization of proline-substitution sites for protein thermostabilization

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Isomaltulose synthase (PalI) of Klebsiella sp. LX3. Crystal structure and implication of mechanism

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Membrane topology of system xc- light subunit reveals a re-entrant loop with substrate-restricted accessibility

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Functional and structural characterization of the first prokaryotic member of the L-amino acid transporter (LAT) family: a model for APC transporters.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Structure and mechanism of an amino acid antiporter

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Structure of a prokaryotic virtual proton pump at 3.2 Å resolution

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Structure and Mechanism of a Na+-Independent Amino Acid Transporter

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Crystal structure of a bacterial homologue of Na+/Cl--dependent neurotransmitter transporters

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

The Crystal Structure of a Sodium Galactose Transporter Reveals Mechanistic Insights into Na+/Sugar Symport

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Structure and Molecular Mechanism of a Nucleobase-Cation-Symport-1 Family Transporter

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Molecular basis of transport and regulation in the Na(+)/betaine symporter BetP

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Unlocking the molecular secrets of sodium-coupled transporters.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Mechanism of substrate recognition and transport by an amino acid antiporter

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Heterodimeric amino acid transporter glycoprotein domains determining functional subunit association.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

The structural and functional units of heteromeric amino acid transporters. The heavy subunit rBAT dictates oligomerization of the heteromeric amino acid transporters.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Sodium-dependent neurotransmitter transporters: oligomerization as a determinant of transporter function and trafficking

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Distinct classes of trafficking rBAT mutants cause the type I cystinuria phenotype

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

A novel role of the C-terminus of b 0,+ AT in the ER-Golgi trafficking of the rBAT-b 0,+ AT heterodimeric amino acid transporter

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

One step at a time: endoplasmic reticulum-associated degradation

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Cystinuria-specific rBAT(R365W) mutation reveals two translocation pathways in the amino acid transporter rBAT-b0,+AT.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Anticystinuric effects of glutamine and of dietary sodium restriction

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Urinary cystine excretion and capacity in patients with cystinuria.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Effect of a low sodium diet on urinary elimination of cystine in cystinuric children

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

31 March 2020

TREATMENT OF CYSTINURIA

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

A comparison of the effects of potassium citrate and sodium bicarbonate in the alkalinization of urine in homozygous cystinuria

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Acetazolamide is an effective adjunct for urinary alkalization in patients with uric acid and cystine stone formation recalcitrant to potassium citrate

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Stone dissolution with D-penicillamine in cystinuria

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Slc7a9 knockout mouse is a good cystinuria model for antilithiasic pharmacological studies

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

CLINICAL USE OF CYSTINE SUPERSATURATION MEASUREMENTS

31 March 2020

2 references

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

31 March 2020

12 December 2020

Cystinuria in children and young adults: success of monitoring free-cystine urine levels

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

2007 Guideline for the management of ureteral calculi

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Cystine calculi--rough and smooth: a new clinical distinction

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Retrograde renoscopic fragmentation of moderate-size (1.5-3.0-cm) renal cystine stones

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Percutaneous catheter dissolution of cystine calculi

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Protein-misfolding diseases and chaperone-based therapeutic approaches

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

What are pharmacological chaperones and why are they interesting?

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Active-site-specific chaperone therapy for Fabry disease. Yin and Yang of enzyme inhibitors

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Therapy through chaperones: sense or antisense? Cystic fibrosis as a model disease

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Chemical chaperones reduce ER stress and restore glucose homeostasis in a mouse model of type 2 diabetes

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Basolateral aromatic amino acid transporter TAT1 (Slc16a10) functions as an efflux pathway

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Recycling of aromatic amino acids via TAT1 allows efflux of neutral amino acids via LAT2-4F2hc exchanger.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Comparative protein modelling by satisfaction of spatial restraints

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Cystinuria type I: identification of eight new mutations in SLC3A1.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Identification of novel SLC3A1 gene mutations in Spanish cystinuria families and association with clinical phenotypes

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Twenty-four novel mutations identified in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genes

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

An overview of SLC3A1 and SLC7A9 mutations in Greek cystinuria patients

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Identification of novel cystinuria mutations in pediatric patients

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Molecular genetics of cystinuria: mutation analysis of SLC3A1 and evidence for another gene in type I (silent) phenotype

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

An intracellular trafficking defect in type I cystinuria rBAT mutants M467T and M467K.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Reference values of urinary excretion of cystine and dibasic aminoacids: classification of patients with cystinuria in the Valencian Community, Spain

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

SLC7A9 mutations in all three cystinuria subtypes

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEPH.2010.69

Mutations in the genomic deoxyribonucleic acid for SLC3A1 in patients with cystinuria

31 March 2020

1 reference

12 December 2020

Structure of acid beta-glucosidase with pharmacological chaperone provides insight into Gaucher disease

1 reference

12 December 2020

The effect of dietary protein on cystine excretion in patients with cystinuria

1 reference

12 December 2020

Molecular analysis of cystinuria in Libyan Jews: exclusion of the SLC3A1 gene and mapping of a new locus on 19q

1 reference

12 December 2020

Management of cystine nephrolithiasis with alpha-mercaptopropionylglycine

1 reference

12 December 2020

Molecular characterization of fusion regulatory protein-1 (FRP-1) that induces multinucleated giant cell formation of monocytes and HIV gp160-mediated cell fusion. FRP-1 and 4F2/CD98 are identical molecules

1 reference

12 December 2020

Solid phase assay of urine cystine supersaturation in the presence of cystine binding drugs

1 reference

12 December 2020

1 reference

12 December 2020

The 4F2 antigen heavy chain induces uptake of neutral and dibasic amino acids in Xenopus oocytes

1 reference

12 December 2020

Mutations in the SLC3A1 transporter gene in cystinuria

1 reference

12 December 2020

Opposite directed currents induced by the transport of dibasic and neutral amino acids in Xenopus oocytes expressing the protein rBAT

1 reference

12 December 2020

Genetic variations of the SLC7A9 gene: allele distribution of 13 polymorphic sites in German cystinuria patients and controls.

1 reference

12 December 2020

Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1.

1 reference

12 December 2020

Fully automated assay for total homocysteine, cysteine, cysteinylglycine, glutathione, cysteamine, and 2-mercaptopropionylglycine in plasma and urine.

1 reference

12 December 2020

Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity

1 reference

12 December 2020

Identifiers

DOI

10.1038/NRNEPH.2010.69

1 reference

release_u42yh7umxzgpdcbzdqqrg5alfu

22 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/u42yh7umxzgpdcbzdqqrg5alfu

24 November 2022

mapped directly with Wikidata item

1 reference