Research & Literature

Identification of novel inhibitors of the amino acid transporter B0 AT1 (SLC6A19), a potential target to induce protein restriction and to treat type 2 diabetes.

Cheng Q, Shah N, Bröer A, et al.

British journal of pharmacology 2017; (174(6)):468-482 doi:10.1111/bph.13711.

Amino Acid Transport Across the Mammalian Intestine.

Bröer S, Fairweather SJ

Comprehensive Physiology 2018; (9(1)):343-373 doi:10.1002/cphy.c170041.

Association of Schizophrenia Risk With Disordered Niacin Metabolism in an Indian Genome-wide Association Study.

Periyasamy S, John S, Padmavati R, et al.

JAMA psychiatry 2019; (76(10)):1026-1034 doi:10.1001/jamapsychiatry.2019.1335.

Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease.

Pillai NR, Yubero D, Shayota BJ, et al.

American journal of medical genetics. Part A 2019; (179(12)):2459-2468 doi:10.1002/ajmg.a.61357.

Description of a transient proximal tubulopathy induced by amino acids perfusion in peptide receptor radionuclide therapy: A case report.

Lenain R, Hamroun A, Lion G, et al.

Medicine 2019; (98(52)):e18478 doi:10.1097/MD.0000000000018478.

Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio.

Haijes HA, Prinsen HCMT, de Sain-van der Velden MGM, et al.

Molecular genetics and metabolism reports 2020; (22()):100551 doi:10.1016/j.ymgmr.2019.100551.

Kynurenine pathway, NAD+ synthesis, and mitochondrial function: Targeting tryptophan metabolism to promote longevity and healthspan.

Castro-Portuguez R, Sutphin GL

Experimental gerontology 2020; (132()):110841 doi:10.1016/j.exger.2020.110841.

ACE2 and gut amino acid transport.

Camargo SMR, Vuille-Dit-Bille RN, Meier CF, Verrey F

Clinical science (London, England : 1979) 2020; (134(21)):2823-2833 doi:10.1042/CS20200477.

Study of Seizure-Manifested Hartnup Disorder Case Induced By Novel Mutations in SLC6A19.

Zhu Y, Chen L, He J, et al.

Open life sciences 2018; (13()):22-27 doi:10.1515/biol-2018-0003.

Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention.

Žigman T, Petković Ramadža D, Šimić G, Barić I

Frontiers in neuroscience 2021; (15()):673600 doi:10.3389/fnins.2021.673600.

Hartnup disease presenting as hereditary spastic paraplegia and severe peripheral neuropathy.

Wang X, Li XY, Piao Y, et al.

American journal of medical genetics. Part A 2022; (188(1)):237-242 doi:10.1002/ajmg.a.62475.

Tryptophan-derived serotonin-kynurenine balance in immune activation and intestinal inflammation.

Haq S, Grondin JA, Khan WI

FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2021; (35(10)):e21888 doi:10.1096/fj.202100702R.

In vivo antidiabetic activity of nimesulide due to inhibition of amino acid transport.

Joharapurkar A, Kshirsagar S, Patel V, et al.

Basic & clinical pharmacology & toxicology 2022; (130(1)):35-43 doi:10.1111/bcpt.13670.

Expression of SARS-CoV-2 entry factors, electrolyte, and mineral transporters in different mouse intestinal epithelial cell types.

Pearce SC, Suntornsaratoon P, Kishida K, et al.

Physiological reports 2021; (9(21)):e15061 doi:10.14814/phy2.15061.

Establishment of the induced pluripotent stem cell line (NCKDi005-A) from a male patient with Alport syndrome carrying a homozygous frameshift mutation in the COL4A4 gene.

Wang G, Gao E, Wu H, et al.

Stem cell research 2022; (58()):102628 doi:10.1016/j.scr.2021.102628.

Emerging effects of tryptophan pathway metabolites and intestinal microbiota on metabolism and intestinal function.

Hyland NP, Cavanaugh CR, Hornby PJ

Amino acids 2022; (54(1)):57-70 doi:10.1007/s00726-022-03123-x.

Excretion of excess nitrogen and increased survival by loss of SLC6A19 in a mouse model of ornithine transcarbamylase deficiency.

Belanger AJ, Gefteas E, Przybylska M, et al.

Journal of inherited metabolic disease 2023; (46(1)):55-65 doi:10.1002/jimd.12568.

Analysis of real-world data and a mouse model indicates that pirfenidone causes pellagra.

Kuronuma K, Susai N, Kuroita T, et al.

ERJ open research 2022; (8(4)) doi:10.1183/23120541.00245-2022.

New aspects for the brain in Hartnup disease based on mining of high-resolution cellular mRNA expression data for SLC6A19.

Kravetz Z, Schmidt-Kastner R

IBRO neuroscience reports 2023; (14()):393-397 doi:10.1016/j.ibneur.2023.03.010.

Protective effect of Bifidobacterium longum BB536 against nausea caused by pirfenidone in a mouse model of pellagra.

Kuronuma K, Susai N, Kuroita T, et al.

Bioscience of microbiota, food and health 2023; (42(3)):195-202 doi:10.12938/bmfh.2022-042.

CRRT 2023 Meeting: Targeting Amino Acid Transport to Improve Acute Kidney Injury Outcome.

Oe Y, Vallon V

Nephron 2023; (147(12)):774-777 doi:10.1159/000531918.

FAN1 Deletion Variant in Basenji Dogs with Fanconi Syndrome.

Farias FHG, Mhlanga-Mutangadura T, Guo J, et al.

Genes 2024; (15(11)) doi:10.3390/genes15111469.

Adult Neuropsychiatric Manifestation of Hartnup Disease With a Novel SLCA6A19 Variant: A Case Report.

Bachmann T, Faust H, Abou Jamra R, et al.

Neurology. Genetics 2024; (10(6)):e200195 doi:10.1212/NXG.0000000000200195.

Hartnup disease-causing SLC6A19 mutations lead to B0AT1 aberrant trafficking and ACE2 mis-localisation implicating the endoplasmic reticulum protein quality control.

Alkhofash NF, Ali BR

Frontiers in cell and developmental biology 2025; (13()):1589534 doi:10.3389/fcell.2025.1589534.