Amino acid transport defects (IEMs) (Homo sapiens)

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Bibliography

1. Feliubadaló L, Font M, Purroy J, Rousaud F, Estivill X, Nunes V, Golomb E, Centola M, Aksentijevich I, Kreiss Y, Goldman B, Pras M, Kastner DL, Pras E, Gasparini P, Bisceglia L, Beccia E, Gallucci M, de Sanctis L, Ponzone A, Rizzoni GF, Zelante L, Bassi MT, George AL Jr, Manzoni M, De Grandi A, Riboni M, Endsley JK, Ballabio A, Borsani G, Reig N, Fernández E, Estévez R, Pineda M, Torrents D, Camps M, Lloberas J, Zorzano A, Palacín M; ''Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.''; Nat Genet, 1999 PubMed Europe PMC Scholia
2. Shigeta Y, Kanai Y, Chairoungdua A, Ahmed N, Sakamoto S, Matsuo H, Kim DK, Fujimura M, Anzai N, Mizoguchi K, Ueda T, Akakura K, Ichikawa T, Ito H, Endou H; ''A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter.''; Kidney Int, 2006 PubMed Europe PMC Scholia
3. Camargo SM, Singer D, Makrides V, Huggel K, Pos KM, Wagner CA, Kuba K, Danilczyk U, Skovby F, Kleta R, Penninger JM, Verrey F; ''Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations.''; Gastroenterology, 2009 PubMed Europe PMC Scholia
4. Kanai Y, Stelzner M, Nussberger S, Khawaja S, Hebert SC, Smith CP, Hediger MA; ''The neuronal and epithelial human high affinity glutamate transporter. Insights into structure and mechanism of transport.''; J Biol Chem, 1994 PubMed Europe PMC Scholia
5. Abousaab A, Warsi J, Elvira B, Lang F; ''Caveolin-1 Sensitivity of Excitatory Amino Acid Transporters EAAT1, EAAT2, EAAT3, and EAAT4.''; J Membr Biol, 2016 PubMed Europe PMC Scholia
6. Pfeiffer R, Loffing J, Rossier G, Bauch C, Meier C, Eggermann T, Loffing-Cueni D, Kühn LC, Verrey F; ''Luminal heterodimeric amino acid transporter defective in cystinuria.''; Mol Biol Cell, 1999 PubMed Europe PMC Scholia
7. Nenad Blau, Carlo Dionisi Vici, K Michael Gibson, Marinus Duran; ''Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases''; Springer, 2014
8. Bailey CG, Ryan RM, Thoeng AD, Ng C, King K, Vanslambrouck JM, Auray-Blais C, Vandenberg RJ, Bröer S, Rasko JE; ''Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria.''; J Clin Invest, 2011 PubMed Europe PMC Scholia
9. Arriza JL, Fairman WA, Wadiche JI, Murdoch GH, Kavanaugh MP, Amara SG; ''Functional comparisons of three glutamate transporter subtypes cloned from human motor cortex.''; J Neurosci, 1994 PubMed Europe PMC Scholia
10. Zerangue N, Kavanaugh MP; ''Flux coupling in a neuronal glutamate transporter.''; Nature, 1996 PubMed Europe PMC Scholia

History

External references

DataNodes

Name	Type	Database reference	Comment
2 Na+	Metabolite
3 Na+	Metabolite
Cl-	Metabolite
D-aspartate	Metabolite
H+	Metabolite
K+	Metabolite
L-aspartate	Metabolite
L-cysteine	Metabolite
L-glutamate	Metabolite
SLC1A1	Protein	P43005 (Uniprot-TrEMBL)
SLC36A2	Protein	Q495M3 (Uniprot-TrEMBL)
SLC3A1	Protein
SLC6A19	Protein
SLC6A20	Protein	Q9NP91 (Uniprot-TrEMBL)
SLC7A9	Protein
TMEM27	Protein
glycine	Metabolite
proline	Metabolite

Annotated Interactions