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
Hartnup disease presenting as hereditary spastic paraplegia and severe peripheral neuropathy.
Wang X et al.
American Journal of Medical Genetics. Part A, 2022
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