(Q36925881)

17 August 2017

1 reference

title

Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene (English)

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lysinuric protein intolerance

17 August 2017

main subject

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Maria Pia Sperandeo

1

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17 August 2017

Generoso Andria

series ordinal

2

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17 August 2017

Gianfranco Sebastio

series ordinal

3

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17 August 2017

publication date

1 January 2008

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17 August 2017

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17 August 2017

volume

29

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17 August 2017

issue

1

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17 August 2017

page(s)

14-21

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

17 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20589

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20589

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20589

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20589

7 January 2021

Sudden infant death and lysinuric protein intolerance

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20589

7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20589

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20589

7 January 2021

Lysinuric protein intolerance and systemic lupus erythematosus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20589

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20589

7 January 2021

Genetic homogeneity of lysinuric protein intolerance

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20589

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20589

7 January 2021

Promoter analysis of the human SLC7A7 gene encoding y+L amino acid transporter-1 (y+LAT-1).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20589

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20589

7 January 2021

The Finnish Disease Heritage III: the individual diseases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20589

7 January 2021

The molecular bases of cystinuria and lysinuric protein intolerance.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20589

7 January 2021

Lysinuric protein intolerance: mechanisms of pathophysiology

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20589

7 January 2021

The genetics of heteromeric amino acid transporters

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20589

7 January 2021

Lysinuric protein intolerance characterized by bone marrow abnormalities and severe clinical course

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20589

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20589

7 January 2021

Two alternative promoters regulate the expression of lysinuric protein intolerance gene SLC7A7.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20589

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20589

7 January 2021

Lysinuric protein intolerance masquerading as celiac disease: a case report

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20589

7 January 2021

Early detection of lung involvement in lysinuric protein intolerance: role of high-resolution computed tomography and radioisotopic methods

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20589

7 January 2021

Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20589

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20589

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20589

7 January 2021

A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20589

7 January 2021

Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20589

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20589

7 January 2021

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

https://api.crossref.org/works/10.1002%2FHUMU.20589

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20589

7 January 2021

Identifiers

DOI

10.1002/HUMU.20589

1 reference

17 August 2017

1 reference