Associated Papers
Hartnup disease-causing SLC6A19 mutations lead to B0AT1 aberrant trafficking and ACE2 mis-localisation implicating the endoplasmic reticulum protein quality control.
Alkhofash NF et al.
Frontiers in Cell and Developmental Biology, 2025
Mechanisms involved in aminoacidurias: impacts of genetic and environmental factors.
Ajayi JA et al.
Current Research in Physiology, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
NAD+ homeostasis in human health and disease.
Zapata-Pérez R et al.
Embo Molecular Medicine, 2021
Pan-Cancer Analysis of Genomic and Prognostic Characteristics Associated With Coronavirus Disease 2019 Regulators.
Zhang J et al.
Frontiers in Medicine, 2021
34458283 (PubMed )
Supplement: Table_1.XLS › SLC6A19
Study of Seizure-Manifested Hartnup Disorder Case Induced By Novel Mutations in SLC6A19.
Zhu Y et al.
Open Life Sciences, 2018
Defining the blanks--pharmacochaperoning of SLC6 transporters and ABC transporters.
Chiba P et al.
Pharmacological Research, 2014
Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder.
Cheon CK et al.
Pediatric Neurology, 2010
Collectrin and ACE2 in renal and intestinal amino acid transport.
Singer D et al.
Channels (austin, Tex.), 0
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