Urine-derived epithelial cells as models for genetic kidney diseases

T Bondue, FO Arcolino, KRP Veys, OC Adebayo… - Cells, 2021 - mdpi.com
Epithelial cells exfoliated in human urine can include cells anywhere from the urinary tract
and kidneys; however, podocytes and proximal tubular epithelial cells (PTECs) are by far the …

Characterization of cytoskeletal and structural effects of INF2 variants causing glomerulopathy and neuropathy

H Ueda, QTH Tran, LNT Tran, K Higasa, Y Ikeda… - Scientific Reports, 2023 - nature.com
Focal segmental glomerulosclerosis (FSGS) is a common glomerular injury leading to end-
stage renal disease. Monogenic FSGS is primarily ascribed to decreased podocyte integrity …

An inactivating human TRPC6 channel mutation without focal segmental glomerulosclerosis

L Batool, K Hariharan, Y Xu, M Kaßmann… - Cellular and Molecular …, 2023 - Springer
Transient receptor potential cation channel-6 (TRPC6) gene mutations cause familial focal
segmental glomerulosclerosis (FSGS), which is inherited as an autosomal dominant …

Mechanisms of podocyte injury in genetic kidney disease

N Mann, H Sun, AJ Majmundar - Pediatric Nephrology, 2024 - Springer
Glomerular diseases are a leading cause of chronic kidney disease worldwide. Both
acquired and hereditary glomerulopathies frequently share a common final disease …

Beneficial effects of procyanidin B2 on adriamycin-induced nephrotic syndrome mice: the multi-action mechanism for ameliorating glomerular permselectivity injury

C Zhao, J Tang, X Li, Z Yan, L Zhao, W Lang… - Food & Function, 2022 - pubs.rsc.org
Despite considerable advances in prevention, diagnosis, and therapy, nephrotic syndrome
(NS) remains a significant cause of high morbidity and mortality globally. As a result, there is …

Gain-of-function, focal segmental glomerulosclerosis Trpc6 mutation minimally affects susceptibility to renal injury in several mouse models

BJ Brown, KL Boekell, BR Stotter, BE Talbot… - PLoS …, 2022 - journals.plos.org
Mutations in TRPC6 are a cause of autosomal dominant focal segmental glomerulosclerosis
in humans. Many of these mutations are known to have a gain-of-function effect on the non …

PTEN-induced kinase 1 deficiency alters albumin permeability and insulin signaling in podocytes

I Audzeyenka, P Rachubik, M Typiak, T Kulesza… - Journal of Molecular …, 2022 - Springer
Alterations of insulin signaling in diabetes are associated with podocyte injury, proteinuria,
and renal failure. Insulin stimulates glucose transport to cells and regulates other …

Alteration in Rab11‐mediated endocytic trafficking of LDL receptor contributes to angiotensin II‐induced cholesterol accumulation and injury in podocytes

J Hu, Z Zhu, Z Chen, Q Yang, W Liang… - Cell …, 2022 - Wiley Online Library
Objectives Exposure of podocytes to angiotensin II (Ang II) enhances the abundance of the
cell surface glycoprotein, low‐density lipoprotein receptor (LDLR) and promotes significant …

INF2 formin variants linked to human inherited kidney disease reprogram the transcriptome, causing mitotic chaos and cell death

L Labat-de-Hoz, L Fernández-Martín, I Correas… - Cellular and Molecular …, 2024 - Springer
Mutations in the human INF2 gene cause autosomal dominant focal segmental
glomerulosclerosis (FSGS)—a condition characterized by podocyte loss, scarring, and …

INF2 mutations in patients with a broad phenotypic spectrum of Charcot‐Marie‐Tooth disease and focal segmental glomerulosclerosis

JH Park, HM Kwon, DE Nam, HJ Kim… - Journal of the …, 2023 - Wiley Online Library
Mutations in INF2 are associated with the complex symptoms of Charcot‐Marie‐Tooth
disease (CMT) and focal segmental glomerulosclerosis (FSGS). To date, more than 100 and …