Journal: Frontiers in Cell and Developmental Biology

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

doi: 10.3389/fcell.2025.1589534

Figure Lengend Snippet: The 9 missense mutations do not co-localize with the plasma membrane marker. (A) B0AT1-WT shows plasma membrane localization. (B–J) Immuno-cytochemistry images of B0AT1 mutants (SLC6A19) localization; Immuno-cytochemistry images of B0AT1 with single nucleotide generated via site directed mutagenesis. These mutants show no normal localization, without co-localization with the PM marker GFP-hRas. Immunofluorescence images were captured with a Nikon eclipse i80 at magnification of ×100. Scale bar = 50 μm.

Article Snippet: Invitae Labs also reports that this missense variant is not expected to disrupt SLC6A19 protein function, PolyPhen predicts it to be “benign (0.24)”.

Techniques: Clinical Proteomics, Membrane, Marker, Immunocytochemistry, Generated, Mutagenesis, Immunofluorescence

Journal: Frontiers in Cell and Developmental Biology

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

doi: 10.3389/fcell.2025.1589534

Figure Lengend Snippet: The 9 missense mutations co-localize with the ER marker. (A) B0AT1-WT shows plasma membrane localization with no ER retention. (B–J) Immuno-cytochemistry images of B0AT1 mutants (SLC6A19) generated via site-directed mutagenesis. The mutants show ER retention, confirmed by co-localization with Calnexin (an ER marker), while H-Ras serves as the plasma membrane marker. Immunofluorescence images were captured with a Nikon eclipse i80 at magnification of ×100. Scale bar = 50 μm.

Article Snippet: Invitae Labs also reports that this missense variant is not expected to disrupt SLC6A19 protein function, PolyPhen predicts it to be “benign (0.24)”.

Techniques: Marker, Clinical Proteomics, Membrane, Immunocytochemistry, Generated, Mutagenesis, Immunofluorescence

Journal: Frontiers in Cell and Developmental Biology

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

doi: 10.3389/fcell.2025.1589534

Figure Lengend Snippet: ER-retained B0AT1 variants and ACE2 co-transfection with GFP-hRas in Hela cells. (A) Co-localization of WT-ACE2 (Blue) with the plasma membrane marker GFP-hRas (Green). (B–J) Co-localization of ER-retained B0AT1 (SLC6A19) mutants (Red) and WT-ACE2 (Blue) Immuno-cytochemistry show the of B0AT1 mutants on ACE2 localization. Immunofluorescence images were captured with a Nikon eclipse i80 at magnification of ×100. Scale bar = 50 μm.

Article Snippet: Invitae Labs also reports that this missense variant is not expected to disrupt SLC6A19 protein function, PolyPhen predicts it to be “benign (0.24)”.

Techniques: Cotransfection, Clinical Proteomics, Membrane, Marker, Immunocytochemistry, Immunofluorescence