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Page 1
Neutral amino acid transport in epithelial cells and its malfunction in Hartnup disorder.
Bröer S, Cavanaugh JA, Rasko JE. Bröer S, et al. Biochem Soc Trans. 2005 Feb;33(Pt 1):233-6. doi: 10.1042/BST0330233. Biochem Soc Trans. 2005. PMID: 15667315 Review.
Hartnup disorder is an autosomal recessive abnormality of renal and gastrointestinal neutral amino acid transport. ...Flux experiments and electrophysiological recording showed that the transporter is Na(+) dependent and Cl(-) inde
Hartnup disorder is an autosomal recessive abnormality of renal and gastrointestinal neutral amino acid
The role of the neutral amino acid transporter B0AT1 (SLC6A19) in Hartnup disorder and protein nutrition.
Bröer S. Bröer S. IUBMB Life. 2009 Jun;61(6):591-9. doi: 10.1002/iub.210. IUBMB Life. 2009. PMID: 19472175 Free PMC article. Review.
Hartnup disorder (OMIM 234500) is an autosomal recessive disorder, which was first described in 1956 as an aminoaciduria of neutral amino acids accompanied by a variety of symptoms, such as a photo-sensitive skin-rash and cerebellar ataxi
Hartnup disorder (OMIM 234500) is an autosomal recessive disorder, which was first described in 1956 as an aminoaciduri
The SLC6A15-SLC6A20 Neutral Amino Acid Transporter Subfamily: Functions, Diseases, and Their Therapeutic Relevance.
Kukułowicz J, Pietrzak-Lichwa K, Klimończyk K, Idlin N, Bajda M. Kukułowicz J, et al. Pharmacol Rev. 2023 Dec 15;76(1):142-193. doi: 10.1124/pharmrev.123.000886. Pharmacol Rev. 2023. PMID: 37940347 Review.
The neutral amino acid transporter subfamily that consists of six members, consecutively SLC6A15-SLC620, also called orphan transporters, represents membrane, sodium-dependent symporter proteins that belong to the family of solute …
The neutral amino acid transporter subfamily that consists of six members, consecutively SLC6A15-SLC620, also ca …
Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19.
Seow HF, Bröer S, Bröer A, Bailey CG, Potter SJ, Cavanaugh JA, Rasko JE. Seow HF, et al. Nat Genet. 2004 Sep;36(9):1003-7. doi: 10.1038/ng1406. Epub 2004 Aug 1. Nat Genet. 2004. PMID: 15286788
Hartnup disorder (OMIM 234500) is an autosomal recessive abnormality of renal and gastrointestinal neutral amino acid transport noted for its clinical variability. ...The disease-causing mutations that we tested reduced neutral
Hartnup disorder (OMIM 234500) is an autosomal recessive abnormality of renal and gastrointestinal neutral amino
Structural Dynamics of Neutral Amino Acid Transporter SLC6A19 in Simple and Complex Lipid Bilayers.
Dehury B, Mishra S, Panda S, Singh MK, Simha NL, Pati S. Dehury B, et al. J Cell Biochem. 2025 Jan;126(1):e30693. doi: 10.1002/jcb.30693. J Cell Biochem. 2025. PMID: 39749651 Free PMC article.
B0AT1 (SLC6A19) is a major sodium-coupled neutral amino acid transporter that relies on angiotensin converting enzyme 2 (ACE2) or collectrin for membrane trafficking. ...Considerably, destabilization in the structure of B0AT1 in lipid env …
B0AT1 (SLC6A19) is a major sodium-coupled neutral amino acid transporter that relies on angiotensin conve …
ACE2 and gut amino acid transport.
Camargo SMR, Vuille-Dit-Bille RN, Meier CF, Verrey F. Camargo SMR, et al. Clin Sci (Lond). 2020 Nov 13;134(21):2823-2833. doi: 10.1042/CS20200477. Clin Sci (Lond). 2020. PMID: 33140827 Review.
There, ACE2 protein heterodimerizes with the neutral amino acid transporter Broad neutral Amino acid Transporter 1 (B0AT1) (SLC6A19) or the imino acid transporter Sodium-dependent Imino Transporter
There, ACE2 protein heterodimerizes with the neutral amino acid transporter Broad neutral Amino
The serum and glucocorticoid inducible kinases SGK1-3 stimulate the neutral amino acid transporter SLC6A19.
Böhmer C, Sopjani M, Klaus F, Lindner R, Laufer J, Jeyaraj S, Lang F, Palmada M. Böhmer C, et al. Cell Physiol Biochem. 2010;25(6):723-32. doi: 10.1159/000315092. Epub 2010 May 18. Cell Physiol Biochem. 2010. PMID: 20511718
The neutral amino acid transporter SLC6A19 (B(0)AT1) plays a decisive role in transport of neutral amino acids in the kidney and intestine. Recently, mutations in SLC6A19 were identified that result in severe …
The neutral amino acid transporter SLC6A19 (B(0)AT1) plays a decisive role in transport of neut
Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder.
Cheon CK, Lee BH, Ko JM, Kim HJ, Yoo HW. Cheon CK, et al. Pediatr Neurol. 2010 May;42(5):369-71. doi: 10.1016/j.pediatrneurol.2010.01.009. Pediatr Neurol. 2010. PMID: 20399395 Review.
Hartnup disorder is caused by an inborn error of neutral amino acid transport in the kidneys and intestines. It is characterized by pellagra-like rash, ataxia, and psychotic behavior. Elevated urinary neutral amino acids
Hartnup disorder is caused by an inborn error of neutral amino acid transport in the kidneys and i
Identification and Characterization of Inhibitors of a Neutral Amino Acid Transporter, SLC6A19, Using Two Functional Cell-Based Assays.
Danthi SJ, Liang B, Smicker O, Coupland B, Gregory J, Gefteas E, Tietz D, Klodnitsky H, Randall K, Belanger A, Kuntzweiler TA. Danthi SJ, et al. SLAS Discov. 2019 Feb;24(2):111-120. doi: 10.1177/2472555218794627. Epub 2018 Dec 27. SLAS Discov. 2019. PMID: 30589598 Free article.
SLC6A19 (B(0)AT1) is a neutral amino acid transporter, the loss of function of which results in Hartnup disease. ...A small-molecule inhibitor of human SLC6A19 (hSLC6A19) was identified using two functional cell-based assays
SLC6A19 (B(0)AT1) is a neutral amino acid transporter, the loss of function of which results in Hartnu
A novel missense mutation in the SLC6A19 gene in a Chinese family with Hartnup disorder.
Zheng Y, Zhou C, Huang Y, Bu D, Zhu X, Jiang W. Zheng Y, et al. Int J Dermatol. 2009 Apr;48(4):388-92. doi: 10.1111/j.1365-4632.2009.03989.x. Int J Dermatol. 2009. PMID: 19335424
BACKGROUND: Hartnup disease is a rare autosomal-recessive abnormality of renal and gastrointestinal neutral amino acid transport associated with neurologic, psychiatric, and dermatologic symptoms. ...Their urine samples showed increased v …
BACKGROUND: Hartnup disease is a rare autosomal-recessive abnormality of renal and gastrointestinal neutral amino
27 results