A small molecule chaperone rescues keratin-8 mediated trafficking of misfolded podocin to correct genetic Nephrotic Syndrome

Authors: Kuzmuk, Valeryia, Pranke, Iwona, Rollason, Ruth, Butler, Matthew, Ding, Wen Y., Beesley, Matthew, Waters, Aoife M., Coward, Richard J., Sessions, Richard, Tuffin, Jack, Foster, Rebecca R., Mollet, Géraldine, Antignac, Corinne, Edelman, Aleksander, Welsh, Gavin I., Saleem, Moin A.

Source: In Kidney International April 2024 105(4):744-758

TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways

Authors: Dorval, Guillaume, Kuzmuk, Valeryia, Gribouval, Olivier, Welsh, Gavin I., Bierzynska, Agnieszka, Schmitt, Alain, Miserey-Lenkei, Stéphanie, Koziell, Ania, Haq, Shuman, Benmerah, Alexandre, Mollet, Géraldine, Boyer, Olivia, Saleem, Moin A., Antignac, Corinne

Source: American journal of human genetics. 104(2):348-355

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100097370269.0x000001&indx=1&recIds=ETOCvdc_100097370269.0x000001

Adeno-associated virus gene therapy prevents progression of kidney disease in genetic models of nephrotic syndrome.

Authors: Ding, Wen Y., Kuzmuk, Valeryia, Hunter, Sarah, Lay, Abigail, Hayes, Bryony, Beesley, Matthew, Rollason, Ruth, Hurcombe, Jennifer A., Barrington, Fern, Masson, Catrin, Cathery, William, May, Carl, Tuffin, Jack, Roberts, Timothy, Mollet, Geraldine, Chu, Colin J., McIntosh, Jenny, Coward, Richard J., Antignac, Corinne, Nathwani, Amit

Source: Science Translational Medicine; 8/9/2023, Vol. 15 Issue 708, p1-17, 17p

Subject Terms: GENE therapy, GENETIC models, ADENO-associated virus, NEPHROTIC syndrome, KIDNEY diseases

GlomSpheres as a 3D co-culture spheroid model of the kidney glomerulus for rapid drug-screening.

Authors: Tuffin, Jack, Chesor, Musleeha, Kuzmuk, Valeryia, Johnson, Tim, Satchell, Simon C., Welsh, Gavin I., Saleem, Moin A.

Source: Communications Biology; 12/2/2021, Vol. 4 Issue 1, p1-14, 14p

Subject Terms: KIDNEY glomerulus, HIGH throughput screening (Drug development), KIDNEY glomerulus diseases, RENAL fibrosis, CHRONIC kidney failure

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A small molecule chaperone rescues keratin-8 mediated trafficking of misfolded podocin to correct genetic Nephrotic Syndrome

Authors: Kuzmuk, Valeryia, Pranke, Iwona, Rollason, Ruth, Butler, Matthew, Ding, Wen Y., Beesley, Matthew, Waters, Aoife M., Coward, Richard J., Sessions, Richard, Tuffin, Jack, Foster, Rebecca R., Mollet, Géraldine, Antignac, Corinne, Edelman, Aleksander, Welsh, Gavin I., Saleem, Moin A.

Source: Kidney International; 20230101, Issue: Preprints