Ask about this productRelated genes to: NPHS2 antibody
- Gene:
- NPHS2 NIH gene
- Name:
- NPHS2 stomatin family member, podocin
- Previous symbol:
- -
- Synonyms:
- SRN1, PDCN
- Chromosome:
- 1q25.2
- Locus Type:
- gene with protein product
- Date approved:
- 2000-11-21
- Date modifiied:
- 2019-04-23
Related products to: NPHS2 antibody
Related articles to: NPHS2 antibody
- Understanding the specific metabolic changes in multiple regions of the kidney is crucial to revealing the underlying mechanism and developing effective targets for diabetic nephropathy (DN). In this study, integrated spatially resolved metabolomics and proteomics combined with mass spectrometry imaging (MSI) revealed a multi-scale region profile of the diabetic kidney. Based on anatomic location, spatial metabolomics revealed eight region-specific metabolite biomarkers uniquely localized to kidney segments, which were closely correlated to the clinical parameters of patients with DN. Specifically, treatment with metformin (MET) enriched inosinic acid, adenosine 3',5'-diphosphate, nicotinamide adenine dinucleotide (NADH), and hydrated NADH (NADHX) levels in the cortex (Cor) and the outer stripe of kidney medulla (OM) anatomical subregions, while in the inner stripe of kidney medulla (IM) segmentation, the p-cresol sulfate level was downregulated. Comparing differently expressed proteins in each region showed that nephrosis 2 (Nphs2) was the highest loading feature. A further region-specific analysis of pathway enrichment characteristics indicated that the purine and ether lipid metabolism pathways were enriched in the Cor and OM regions, whereas the pantothenate and coenzyme A (CoA) biosynthesis pathways were mainly enriched in the IM region in response to MET treatment. Taken together, the spatially segregated metabolomics and proteomics studies reveal MET-mediated proteins and function-specific therapeutic pathways related to the anatomical multiregion of diabetic mouse kidneys. - Source: PubMed
Publication date: 2025/05/30
Qiu ShiXie DandanGuo SifanWang ZhiboWang XianCai YingLin ChunshengYao HongGuan YuZhao QiqiYang QiangXie YiqiangTang SongqiZhang Aihua - The most frequent causative genes in podocytopathies are and that encode the main slit diaphragm components nephrin and podocin, respectively. The significance of the nephrin-podocin interaction has remained elusive. The R229Q variant is unique in human genetics as it is only pathogenic when -associated to specific 3' variants causing R229Q podocin to form distorted heterooligomers. To examine the effect of podocin on the distance between nephrin molecules, nephrin constructs labeled with YPet or mCherry/mRuby were transitionally coexpressed in HEK-293 cells. We assessed the nephrin-nephrin distance based on the Förster Resonance Energy Transfer (FRET) efficiency between YPet and mCherry/mRuby in living cells. Podocin markedly increased the FRET efficiency between nephrin molecules, reflecting reduced and ordered nephrin-nephrin distances. Its effect was abolished by pathogenic podocin variants. Pathogenic R229Q heterooligomers exhibited increased FRET efficiency between their PHB domains that correlated with a larger nephrin-nephrin distance, thereby explaining the associated mild phenotype. The effect of pathogenic and benign R229Q heterooligomers separated sharply in their effect on nephrin-nephrin spacing ( = 1.19E-33). Based on an intermediate effect on the nephrin-nephrin distance and five families with late-onset FSGS, we reconsider the R229Q-R286Tfs*17 association as pathogenic, but via a mechanism different from other R229Q associations and with incomplete penetrance. In conclusion, podocin provides regularly spaced intracellular anchor points for nephrin chains. Podocin homo-oligomerization affects the nephrin-nephrin spacing, thereby providing an explanation for albuminuria in patients with podocin dysfunction and for the interallelic interactions of R229Q. - Source: PubMed
Publication date: 2026/04/14
Antal-Kónya ViolettaSchay GusztávKétszeri MátéBalogh EszterMikó ÁgnesSeidl DánielKeszthelyi Tália MagdolnaBernáth MáriaUngvári-Veres AnitaDorval GuillaumeSaleem Moin ADixit AbhijitAntignac CorinnePászty KatalinKellermayer MiklósMenyhárd Dóra KTory Kálmán - Steroid-resistant nephrotic syndrome (SRNS) is the leading cause of chronic glomerular disease in individuals under 25 years of age. Biallelic variants in , encoding podocin, are the most common monogenic etiology. Podocin homo-oligomerizes to a critical slit diaphragm complex. genotype-phenotype relationships and podocin's assembly architecture remain incompletely defined. - Source: PubMed
Publication date: 2026/02/19
Mertens Nils DavidNicolas Frank CamilleBolsius LeahShril ShirleeMajmundar Amar JHuber Tobias BHildebrandt FriedhelmBuerger Florian - Focal segmental glomerulosclerosis (FSGS) is one of the major causes of nephrotic syndrome, which can progress to end-stage renal disease, leading to kidney transplantation. Following renal transplantation, recurrence of FSGS (rFSGS) occurs in 30%-40% of patients with a high risk of graft loss. rFSGS typically presents with nephrotic-range proteinuria within days after post-transplantation. This review summarizes pathophysiology, biomarkers, and therapeutic strategies for rFSGS. Monogenic causes of FSGS, such as those caused by APOL1 mutation, show variable recurrence, while NPHS2 and ACTN4 show low recurrence of FSGS. Evidence suggests that idiopathic or primary FSGS is strongly associated with rFSGS, owing to podocyte structural damage caused by circulating permeability factors or immune dysfunction. Recent advances have identified biomarkers such as anti-nephrin antibodies, anti-CD40 antibodies, soluble tumor necrosis factor receptor 2 (sTNFR2), and soluble urokinase-type plasminogen activator receptor (suPAR) that help in early detection of recurrent FSGS. Post-transplant monitoring includes measuring urine protein-to-creatinine ratio (UPCR) and 24-h urine protein excretion, and a kidney biopsy. Preventive strategies, although including plasmapheresis and rituximab, show limited benefit and are not recommended for routine prophylaxis. Treatment options include plasmapheresis, immunoadsorption, and immunosuppressive drugs such as cyclophosphamide, rituximab, or calcineurin inhibitors. Recurrent FSGS is a clinical challenge with its multifactorial pathogenesis. Incorporating strategies such as genetic testing, risk stratification, and early detection with the help of biomarkers and early treatment can induce remission and preserve graft survival. Despite these advances, large prospective studies are still required for standardizing prevention and management strategies for rFSGS. - Source: PubMed
Publication date: 2026/03/30
Oatley ZacharyJaber DannyRayarakula NikhilGuirguis ThomasKhawaja LaythBhindwallam SiddharthAguirre MarisolRestrepo Jaime ManuelRaina Rupesh - Bortezomib (BTZ) is clinically important in the nephrological field because of its increasing use in plasma cell disorders and antibody-mediated kidney diseases, where it can both exert therapeutic benefits and, paradoxically, cause significant renal toxicity. This study investigated the protective effects of vanillic acid (VA) against BTZ-induced acute kidney injury using biochemical and molecular approaches. BTZ administration elevated serum creatinine, blood urea nitrogen, KIM-1 and NGAL, while co-treatment with VA partially normalized these markers. BTZ increased apoptotic markers (BAX, PUMA and TRAIL) and inflammatory cytokines (IL-1β, IL-6, TNF-α and IL-10), which were attenuated by VA. Oxidative stress-related genes NQO1, NOX4 and XO were upregulated, and GPX4 was downregulated by BTZ; VA restored these expressions. BTZ disrupted mitochondrial dynamics and energy metabolism (MFN2, CPT1A and OxPhos decreased; FIS1 increased), with VA ameliorating these changes. Energy imbalance induced by BTZ, reflected by reduced ATP and increased LDH and TAG, was also mitigated by VA. Podocyte proteins nephrin, podocin and CD2AP were reduced, accompanied by increased LAMP1 and decreased miR-204-5p; VA partially restored these levels. Overall, VA protected against BTZ-induced kidney injury via antioxidant, anti-inflammatory, antiapoptotic and mitochondrial mechanisms, potentially involving the miR-204-5p-nephrin axis. - Source: PubMed
Öz Medine AkkanŞimşek HasanÖzdemir SelçukKüçükler SefaKandemir ÖzgeMutlu HüseyinYazıcı RamizKandemir Fatih Mehmet