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Volumn 26, Issue 2, 2005, Pages 53-55

Hartnup disorder: Unraveling the mystery

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; AMINO ACID TRANSPORTER; PROTEIN DERIVATIVE; PROTEIN SLC6A19; UNCLASSIFIED DRUG;

EID: 12844267604     PISSN: 01656147     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.tips.2004.12.003     Document Type: Short Survey
Times cited : (14)

References (15)
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    • R. Kleta Mutations in SLC6A19, encoding B[0]AT1, cause Hartnup disorder Nat. Genet. 36 2004 999 1002
    • (2004) Nat. Genet. , vol.36 , pp. 999-1002
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  • 2
    • 4444377675 scopus 로고    scopus 로고
    • Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19
    • H.F. Seow Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19 Nat. Genet. 36 2004 1003 1007
    • (2004) Nat. Genet. , vol.36 , pp. 1003-1007
    • Seow, H.F.1
  • 3
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    • Hereditary pellagra-like skin rash with temporary cerebellar ataxia. Constant renal amino-aciduria and other bizarre biochemical features
    • D.N. Baron Hereditary pellagra-like skin rash with temporary cerebellar ataxia. Constant renal amino-aciduria and other bizarre biochemical features Lancet 271 1956 421 428
    • (1956) Lancet , vol.271 , pp. 421-428
    • Baron, D.N.1
  • 4
    • 15544370547 scopus 로고    scopus 로고
    • Novel renal amino acid transporters
    • (in press)
    • Verrey, F. et al. Novel renal amino acid transporters. Annu. Rev. Physiol. (in press)
    • Annu. Rev. Physiol.
    • Verrey, F.1
  • 5
    • 0344699322 scopus 로고    scopus 로고
    • Identification of SLC7A7, encoding y+ LAT-1 as the lysinuric protein intolerance gene
    • D. Torrents Identification of SLC7A7, encoding y+ LAT-1 as the lysinuric protein intolerance gene Nat. Genet. 21 1999 293 296
    • (1999) Nat. Genet. , vol.21 , pp. 293-296
    • Torrents, D.1
  • 6
    • 0021952773 scopus 로고
    • Substrate-specificity of the intestinal brush-border proline/sodium [imino] transporter
    • B.R. Stevens, and E.M. Wright Substrate-specificity of the intestinal brush-border proline/sodium [imino] transporter J. Membr. Biol. 87 1985 27 34
    • (1985) J. Membr. Biol. , vol.87 , pp. 27-34
    • Stevens, B.R.1    Wright, E.M.2
  • 7
    • 0037151112 scopus 로고    scopus 로고
    • Functional characterization of two novel mammalian electrogenic proton dependent amino acid cotransporters
    • M. Boll Functional characterization of two novel mammalian electrogenic proton dependent amino acid cotransporters J. Biol. Chem. 277 2002 22966 22973
    • (2002) J. Biol. Chem. , vol.277 , pp. 22966-22973
    • Boll, M.1
  • 8
    • 0035371517 scopus 로고    scopus 로고
    • The molecular bases of cystinuria and lysinuric protein intolerance
    • M. Palacin The molecular bases of cystinuria and lysinuric protein intolerance Curr. Opin. Genet. Dev. 11 2001 328 335
    • (2001) Curr. Opin. Genet. Dev. , vol.11 , pp. 328-335
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  • 9
    • 0036720666 scopus 로고    scopus 로고
    • RBAT-b[0,+] at heterodimer is the main apical reabsorption system for cystine in the kidney
    • E. Fernandez rBAT-b[0,+] AT heterodimer is the main apical reabsorption system for cystine in the kidney Am. J. Physiol.-Renal Physiology 283 2002 F540 F548
    • (2002) Am. J. Physiol.-Renal Physiology , vol.283
    • Fernandez, E.1
  • 10
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    • The neuronal and epithelial human high-affinity glutamate transporter - Insights into structure and mechanism of transport
    • Y. Kanai The neuronal and epithelial human high-affinity glutamate transporter - insights into structure and mechanism of transport J. Biol. Chem. 269 1994 20599 20606
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  • 11
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    • Glutamate transporters in kidney and brain
    • M.A. Hediger Glutamate transporters in kidney and brain Am. J. Physiol. 277 1999 F487 F492
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  • 12
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    • Molecular cloning of mouse amino acid transport system B-0, a neutral amino acid transporter related to Hartnup disorder
    • A. Broer Molecular cloning of mouse amino acid transport system B-0, a neutral amino acid transporter related to Hartnup disorder J. Biol. Chem. 279 2004 24467 24476
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  • 13
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    • J. Nozaki Homozygosity mapping of chromosome 5p15 of a gene responsible for Hartnup disorder Biochem. Biophys. Res. Commun. 284 2001 255 260
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.