Analysis of LPI-causing mutations on y+LAT1 function and localization-Reference-Cited by-同舟云学术

Analysis of LPI-causing mutations on y+LAT1 function and localization

Published:2019-03-04 Issue:1 Volume:14 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Rotoli Bianca Maria,Barilli Amelia,Ingoglia Filippo,Visigalli Rossana,Bianchi Massimiliano G.,Ferrari Francesca,Martinelli Diego,Dionisi-Vici Carlo,Dall’Asta Valeria^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-019-1028-2.pdf

Reference23 articles.

1. Sebastio G, Sperandeo MP, Andria G. Lysinuric protein intolerance: reviewing concepts on a multisystem disease. Am J Med Genet C Semin Med Genet. 2011;157:54–62.

2. Ogier de Baulny H, Schiff M, Dionisi-Vici C. Lysinuric protein intolerance (LPI): a multi organ disease by far more complex than a classic urea cycle disorder. Mol Genet Metab. 2012;106:12–7.

3. Borsani G, Bassi MT, Sperandeo MP, De Grandi A, Buoninconti A, Riboni M, Manzoni M, Incerti B, Pepe A, Andria G, Ballabio A, Sebastio G. SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. Nat Genet. 1999;21:297–301.

4. Torrents D, Mykkanen J, Pineda M, Feliubadalo L, Estevez R, de Cid R, Sanjurjo P, Zorzano A, Nunes V, Huoponen K, Reinikainen A, Simell O, Savontaus ML, Aula P, Palacin M. Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene. Nat Genet. 1999;21:293–6.

5. Toivonen M, Tringham M, Kurko J, Terho P, Simell O, Heiskanen KM, Mykkanen J. Interactions of y+LAT1 and 4F2hc in the y+l amino acid transporter complex: consequences of lysinuric protein intolerance-causing mutations. Gen Physiol Biophys. 2013;32:479–88.

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