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The molecular bases of cystinuria and lysinuric protein intolerance.
scientific article published in June 2001
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11377971
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11377971%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
review article
1 reference
stated in
Europe PubMed Central
title
The molecular bases of cystinuria and lysinuric protein intolerance
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11377971
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11377971%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
author
Giuseppe Borsani
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11377971
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11377971%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
author name string
M Palacín
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11377971
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11377971%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
G Sebastio
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11377971
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11377971%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
publication date
1 June 2001
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11377971
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11377971%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
published in
Current Opinion in Genetics & Development
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11377971
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11377971%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
volume
11
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11377971
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11377971%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
issue
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11377971
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11377971%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
page(s)
328-335
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11377971
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11377971%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
cites work
Molecular biology of mammalian plasma membrane amino acid transporters
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
The amino acid transport system y+L/4F2hc is a heteromultimeric complex.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cystinuria calls for heteromultimeric amino acid transporters.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Expression cloning and characterization of a transporter for large neutral amino acids activated by the heavy chain of 4F2 antigen (CD98)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Amino-acid transport by heterodimers of 4F2hc/CD98 and members of a permease family
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Amino acid transport of y+L-type by heterodimers of 4F2hc/CD98 and members of the glycoprotein-associated amino acid transporter family
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cloning and expression of a plasma membrane cystine/glutamate exchange transporter composed of two distinct proteins
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of a membrane protein, LAT-2, that Co-expresses with 4F2 heavy chain, an L-type amino acid transport activity with broad specificity for small and large zwitterionic amino acids
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification and functional characterization of a Na+-independent neutral amino acid transporter with broad substrate selectivity
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
LAT2, a new basolateral 4F2hc/CD98-associated amino acid transporter of kidney and intestine
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of an amino acid transporter associated with the cystinuria-related type II membrane glycoprotein
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Luminal heterodimeric amino acid transporter defective in cystinuria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification and characterization of a Na(+)-independent neutral amino acid transporter that associates with the 4F2 heavy chain and exhibits substrate selectivity for small neutral D- and L-amino acids
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cloning and characterization of a human brain Na(+)-independent transporter for small neutral amino acids that transports D-serine with high affinity
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification and characterisation of human xCT that co-expresses, with 4F2 heavy chain, the amino acid transport activity system xc-
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
New glycoprotein-associated amino acid transporters
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Surface antigen CD98(4F2): not a single membrane protein, but a family of proteins with multiple functions
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Heteromeric amino acid transporters explain inherited aminoacidurias
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Functional heterodimeric amino acid transporters lacking cysteine residues involved in disulfide bond
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
4F2 (CD98) heavy chain is associated covalently with an amino acid transporter and controls intracellular trafficking and membrane topology of 4F2 heterodimer.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The light chain of CD98 is identified as E16/TA1 protein
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular cloning and expression of human xCT, the light chain of amino acid transport system xc-.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The heterodimeric amino acid transporter 4F2hc/y+LAT2 mediates arginine efflux in exchange with glutamine
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sequential amino acid exchange across b(0,+)-like system in chicken brush border jejunum.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mammalian amino acid transport system y+ revisited: specificity and cation dependence of the interaction with neutral amino acids
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Transport properties of a system y+L neutral and basic amino acid transporter. Insights into the mechanisms of substrate recognition
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Prospective analysis and classification of patients with cystinuria identified in a newborn screening program
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An intracellular trafficking defect in type I cystinuria rBAT mutants M467T and M467K.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular genetics of cystinuria: mutation analysis of SLC3A1 and evidence for another gene in type I (silent) phenotype
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Linkage of type II and type III cystinuria to 19q13.1: codominant inheritance of two cystinuric alleles at 19q13.1 produces an extreme stone-forming phenotype
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Functional analysis of mutations in SLC7A9, and genotype–phenotype correlation in non-Type I cystinuria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Ultrastructural localization of a neutral and basic amino acid transporter in rat kidney and intestine
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Early detection of lung involvement in lysinuric protein intolerance: role of high-resolution computed tomography and radioisotopic methods
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic homogeneity of lysinuric protein intolerance
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cationic amino acid transport through system y+L in erythrocytes of patients with lysinuric protein intolerance
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Arginine transport through system y(+)L in cultured human fibroblasts: normal phenotype of cells from LPI subjects
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2800%2900198-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0959-437X(00)00198-2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11377971
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11377971%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
PubMed publication ID
11377971
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11377971
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11377971%20AND%20SRC:MED&resulttype=core&format=json
retrieved
8 November 2019
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