Associated Papers
Clinical and Genetic Spectrum of Patients with Pediatric-Onset Epilepsy: Insights from a Single-Center Study.
Tozkir H et al.
Genes, 2025
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
Structure and function of the SIT1 proline transporter in complex with the COVID-19 receptor ACE2.
Li HZ et al.
Nature Communications, 2024
38951531 (PubMed )
Supplement: 41467_2024_48921_MOESM2_ESM.pdf
Angiotensin-converting enzyme 2 (ACE2) in disease pathogenesis.
Imai Y et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2010
The role of the neutral amino acid transporter B0AT1 (SLC6A19) in Hartnup disorder and protein nutrition.
Bröer S
Iubmb Life, 2009
Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations.
Camargo SM et al.
Gastroenterology, 2009
A protein complex in the brush-border membrane explains a Hartnup disorder allele.
Kowalczuk S et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2008
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
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