Associated Papers
Structural Dynamics of Neutral Amino Acid Transporter SLC6A19 in Simple and Complex Lipid Bilayers.
Dehury B et al.
Journal of Cellular Biochemistry, 2025
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
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.
Reid KM et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
NAD+ homeostasis in human health and disease.
Zapata-Pérez R et al.
Embo Molecular Medicine, 2021
SARS-CoV-2 (COVID-19) structural and evolutionary dynamicome: Insights into functional evolution and human genomics.
Gupta R et al.
The Journal of Biological Chemistry, 2020
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
The role of the neutral amino acid transporter B0AT1 (SLC6A19) in Hartnup disorder and protein nutrition.
Bröer S
Iubmb Life, 2009
A novel missense mutation in the SLC6A19 gene in a Chinese family with Hartnup disorder.
Zheng Y et al.
International Journal of Dermatology, 2009
Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations.
Camargo SM et al.
Gastroenterology, 2009
Further evidence for allelic heterogeneity in Hartnup disorder.
Azmanov DN et al.
Human Mutation, 2008
Neutral amino acid transport in epithelial cells and its malfunction in Hartnup disorder.
Bröer S et al.
Biochemical Society Transactions, 2005
Hartnup disorder: unraveling the mystery.
Kraut JA et al.
Trends in Pharmacological Sciences, 2005
Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19.
Seow HF et al.
Nature Genetics, 2004
Collectrin and ACE2 in renal and intestinal amino acid transport.
Singer D et al.
Channels (austin, Tex.), 0