Category Archives: H4 Receptors

A Homozygous Variant in SRNS-1 mmc2.xlsx (14K) GUID:?8F743830-CF22-484B-8620-1EFF78031E14 Table S5. scaffold and is an essential protein in all eukaryotic cells. Here, we report on biallelic mutations in nine affected individuals who are from five unrelated families and show early-onset steroid-resistant nephrotic syndrome (SRNS). These individuals have pathologically focal segmental glomerulosclerosis, a condition that leads to end-stage renal disease with high frequency. is ubiquitously expressed, including in glomerular podocytes. Three of four mutations detected in the affected individuals hamper NUP107 binding to NUP133 (nucleoporin 133?kDa) and NUP107 incorporation into NPCs in?vitro. Zebrafish with knockdown generated by morpholino oligonucleotides displayed hypoplastic glomerulus structures Oxoadipic acid and abnormal podocyte foot processes, thereby mimicking the pathological changes seen in the kidneys of the SRNS individuals with mutations. Considering the unique properties of?the podocyte (highly differentiated foot-process architecture and slit membrane and the inability to regenerate), we propose a podocyte-injury model as the pathomechanism for…

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