ArticlePhysiological reports2013
Nephrin missense mutations: induction of endoplasmic reticulum stress and cell surface rescue by reduction in chaperone interactions.
Article in Physiological reports, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 40 citations in OpenAlex.
- Genetic insights into congenital and infantile nephrotic syndrome: predicting severity and informing care.Pediatric nephrology (Berlin, Germany) · 2026Review
- Targeting selective autophagy and beyond: From underlying mechanisms to potential therapies.Journal of advanced research · 2024Review
- α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response.Molecular genetics and metabolism reports · 2022Article
- The IRE1α pathway in glomerular diseases: The unfolded protein response and beyond.Frontiers in molecular medicine · 2022Review
- Renal cell markers: lighthouses for managing renal diseases.American journal of physiology. Renal physiology · 2021Article
- Endoplasmic reticulum-associated degradation is required for nephrin maturation and kidney glomerular filtration function.The Journal of clinical investigation · 2021Article
- Impaired NEPHRIN localization in kidney organoids derived from nephrotic patient iPS cells.Scientific reports · 2021Article
- Urinary ERdj3 and mesencephalic astrocyte-derived neutrophic factor identify endoplasmic reticulum stress in glomerular disease.Laboratory investigation; a journal of technical methods and pathology · 2020Article
- Genetic Ablation of Calcium-independent Phospholipase AScientific reports · 2019Article
- Chaperoning Endoplasmic Reticulum-Associated Degradation (ERAD) and Protein Conformational Diseases.Cold Spring Harbor perspectives in biology · 2019Review
- Discovery of endoplasmic reticulum calcium stabilizers to rescue ER-stressed podocytes in nephrotic syndrome.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- The ubiquitin-proteasome system in kidney physiology and disease.Nature reviews. Nephrology · 2019Review
- Organoids from Nephrotic Disease-Derived iPSCs Identify Impaired NEPHRIN Localization and Slit Diaphragm Formation in Kidney Podocytes.Stem cell reports · 2018Article
- Ste20-like kinase, SLK, a novel mediator of podocyte integrity.American journal of physiology. Renal physiology · 2018Article
- Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome.The Journal of biological chemistry · 2018Article
- Degradation routes of trafficking-defective VLDLR mutants associated with Dysequilibrium syndrome.Scientific reports · 2018Article
- Endoplasmic reticulum stress, the unfolded protein response and autophagy in kidney diseases.Nature reviews. Nephrology · 2017Review
- Mesencephalic astrocyte-derived neurotrophic factor (MANF), a new player in endoplasmic reticulum diseases: structure, biology, and therapeutic roles.Translational research : the journal of laboratory and clinical medicine · 2017Review
- The Chemical Chaperone, PBA, Reduces ER Stress and Autophagy and Increases Collagen IV α5 Expression in Cultured Fibroblasts From Men With X-Linked Alport Syndrome and Missense Mutations.Kidney international reports · 2017Article
- Mutant uromodulin expression leads to altered homeostasis of the endoplasmic reticulum and activates the unfolded protein response.PloS one · 2017Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Nephrin, an important component of the podocyte filtration slit diaphragm, plays a key role in the maintenance of glomerular permselectivity. Mutations in nephrin lead to proteinuria and congenital nephrotic syndrome. Nephrin undergoes posttranslational modifications in the endoplasmic reticulum (ER) prior to export to the plasma membrane. We examined the effects of human nephrin disease-associated missense mutations on nephrin folding in the ER and on cellular trafficking in cultured cells. Compared with wild-type (WT) nephrin, the mutants showed impaired glycosylation and enhanced association with the ER chaperone, calnexin, as well as accumulation in the ER. Nephrin mutants demonstrated enhanced ubiquitination, and they underwent ER-associated degradation. Certain nephrin mutants did not traffic to the plasma membrane. Expression of nephrin mutants resulted in the stimulation of the activating transcription factor-6 pathway of the unfolded protein response, and an increase in the ER chaperone, Grp94. We treated cells with castanospermine (an inhibitor of glucosidase I) in order to decrease the association of nephrin mutants with calnexin. Castanospermine increased plasma membrane expression of nephrin mutants; however, full glycosylation and signaling activity of the mutants were not restored. Modulation of ER quality control mechanisms represents a potential new approach to development of therapies for proteinuric kidney disease, including congenital nephrotic syndrome.
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