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The unfolded protein response transducer IRE1α promotes reticulophagy in podocytes

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COL4A3 mutation is an independent risk factor for poor prognosis in children with Alport syndrome

Özdemir, G., Gülhan, B., Atayar, E., Saygılı, S., Söylemezoğlu, O., Özçakar, Z. B., Eroğlu, F. K., Candan, C., Demir, B. K., Soylu, A., et al. (2020) · Pediatric Nephrology · doi:10.1007/s00467-020-04574-8 · Cited by 19 · see citing works

Targeting endoplasmic reticulum stress: an innovative therapeutic strategy for podocyte-related kidney diseases

Lv, J., Yu, H., Du, S., Xu, P., Zhao, Y., Qi, W., & Wang, X. (2025) · Journal of Translational Medicine · doi:10.1186/s12967-025-06076-3 · Cited by 18 · see citing works

Calcium signaling crosstalk between the endoplasmic reticulum and mitochondria, a new drug development strategies of kidney diseases

Ge, W.-D., Du, T.-T., Wang, C.-Y., Sun, L., & Wang, Y. (2024) · Biochemical Pharmacology · doi:10.1016/j.bcp.2024.116278 · Cited by 18 · see citing works

Endoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and X

Gawron, K. (2016) · Cell Stress and Chaperones · doi:10.1007/s12192-016-0719-z · Cited by 18 · see citing works

Endoplasmic reticulum stress and proteasome pathway involvement in human podocyte injury with a truncated COL4A3 mutation

Zhang, H., Huang, J.-N., Liu, Y., Ren, H., Xie, J., & Chen, N. (2019) · Chinese Medical Journal · doi:10.1097/cm9.0000000000000294 · Cited by 16 · see citing works

A Comparative Presentation of Mouse Models That Recapitulate Most Features of Alport Syndrome

Nikolaou, S., & Deltas, C. C. (2022) · Genes · doi:10.3390/genes13101893 · Cited by 15 · see citing works

Therapeutic effects of Salvia miltiorrhiza injection combined with telmisartan in patients with diabetic nephropathy by influencing collagen IV and fibronectin: A case-control study

Nie, J.-M., & Li, H. (2018) · Experimental and Therapeutic Medicine · doi:10.3892/etm.2018.6654 · Cited by 15 · see citing works

A glycine substitution in the collagenous domain of Col4a3 in mice recapitulates late onset Alport syndrome

Odiatis, C., Savva, I., Pieri, M., Ioannou, P., Petrou, P., Papagregoriou, G., Antoniadou, K., Makrides, N., Stefanou, C., Ljubanović, D. G., et al. (2020) · Matrix Biology Plus · doi:10.1016/j.mbplus.2020.100053 · Cited by 13 · see citing works

Induced Pluripotent Stem Cell–Derived Podocyte-Like Cells as Models for Assessing Mechanisms Underlying Heritable Disease Phenotype: Initial Studies Using Two Alport Syndrome Patient Lines Indicate Impaired Potassium Channel Activity

Haynes, J. M., Selby, J. N., Vandekolk, T. H., Abad, I. P. L., Ho, J. K., Lieuw, W.-L., Leach, K., Savige, J., Saini, S., Fisher, C. L., et al. (2018) · Journal of Pharmacology and Experimental Therapeutics · doi:10.1124/jpet.118.250142 · Cited by 13 · see citing works

Collagen IV in Gould syndrome and Alport syndrome

Massoudi, D., Miner, J. H., & Gould, D. B. (2025) · Nature Reviews Nephrology · doi:10.1038/s41581-025-00982-x · Cited by 12 · see citing works

Exploration of Gene Therapy for Alport Syndrome

Zhao, Y., Zheng, Q., & Xie, J. (2024) · Biomedicines · doi:10.3390/biomedicines12061159 · Cited by 12 · see citing works

The chemical chaperone 4-phenylbutyric acid rescues molecular cell defects of COL3A1 mutations that cause vascular Ehlers Danlos Syndrome

Omar, R., Lee, M. A., Gonzalez-Trueba, L., Thomson, C. R., Hansen, U. J., Lianos, S., Hazarika, S., Abdallah, O. H. E., Ammar, M. A., Cassels, J. E., et al. (2025) · Cell Death Discovery · doi:10.1038/s41420-025-02476-y · Cited by 13 · see citing works

The Renal Connexome and Possible Roles of Connexins in Kidney Diseases

Sala, G., Badalamenti, S., & Ponticelli, C. E. (2015) · American Journal of Kidney Diseases · doi:10.1053/j.ajkd.2015.09.030 · Cited by 11 · see citing works

Variations of type IV collagen-encoding genes in patients with histological diagnosis of focal segmental glomerulosclerosis

Demir, E., & Çalışkan, Y. (2019) · Pediatric Nephrology · doi:10.1007/s00467-019-04282-y · Cited by 11 · see citing works

Progress in therapeutic targets on podocyte for Alport syndrome

Zheng, Q., Gu, X., He, C., & Xie, J. (2024) · Journal of Translational Internal Medicine · doi:10.2478/jtim-2024-0005 · Cited by 10 · see citing works

Glomerular basement membrane deposition of collagen α1( III ) in A lport glomeruli by mesangial filopodia injures podocytes via aberrant signaling through DDR1 and integrin α2β1

Madison, J., Wilhelm, K. O., Meehan, D. T., Delimont, D. C., Samuelson, G. C., & Cosgrove, D. E. (2022) · The Journal of Pathology · doi:10.1002/path.5969 · Cited by 10 · see citing works

Mechanisms of Protein Trafficking and Quality Control in the Kidney and Beyond

Shaw, J. L., Pablo, J. L., & Greka, A. (2023) · Annual Review of Physiology · doi:10.1146/annurev-physiol-031522-100639 · Cited by 11 · see citing works

COL4A3 Mutation Induced Podocyte Apoptosis by Dysregulation of NADPH Oxidase 4 and MMP-2

Tong, J., Zheng, Q., Gu, X., Weng, Q., Yu, S., Fang, Z., Hussain, H. M. J., Xu, J., Ren, H., Chen, N., et al. (2023) · Kidney International Reports · doi:10.1016/j.ekir.2023.06.007 · Cited by 10 · see citing works

The IRE1α pathway in glomerular diseases: The unfolded protein response and beyond

Navarro‐Betancourt, J. R., & Cybulsky, A. V. (2022) · Frontiers in Molecular Medicine · doi:10.3389/fmmed.2022.971247 · Cited by 9 · see citing works

Endoplasmic Reticulum Stress Activation in Alport Syndrome Varies Between Genotype and Cell Type

Wang, C., Liang, S., Xing, S., Xu, K., Xiao, H., Deng, H., Wang, X., Chen, L., Ding, J., & Wang, F. (2020) · Frontiers in Genetics · doi:10.3389/fgene.2020.00036 · Cited by 8 · see citing works

Collagen IV-Related Diseases and Therapies

Dean, A., & Agtmael, T. V. (2021) · Biology of extracellular matrix · doi:10.1007/978-3-030-67592-9_5 · Cited by 8 · see citing works

Protein misfolding in endoplasmic reticulum stress with applications to renal diseases

Nademi, S., & Dickhout, J. G. (2019) · Advances in protein chemistry and structural biology · doi:10.1016/bs.apcsb.2019.08.001 · Cited by 7 · see citing works

Patient-derived podocyte spheroids reveal new insights into the etiopathogenesis of Alport syndrome

Romero‐Guevara, R., Nicolaou, O., Petracca, B., Shaheed, S., Sutton, C., Frangou, E. A., Afami, M., Kyriacou, K. C., Ioannides, A. S., & Xinaris, C. (2023) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2023.1111424 · Cited by 7 · see citing works

Genotype-Based Molecular Mechanisms in Alport Syndrome

Çaparali, E. B., Gregorio, V. D., & Barua, M. (2025) · Journal of the American Society of Nephrology · doi:10.1681/asn.0000000647 · Cited by 6 · see citing works

Chemical chaperone 4-phenylbutyrate treatment alleviates the kidney phenotype in a mouse model of Alport syndrome with a pathogenic variant in Col4a3

Ioannou, P., Odiatis, C., Hadjisavva, R., Antoniadou, K., Pieri, M., Malatras, A., Papagregoriou, G., Aristotelous, A., Skourides, P. A., Samiotaki, M. K., et al. (2025) · Kidney International · doi:10.1016/j.kint.2025.05.016 · Cited by 7 · see citing works

Pathophysiology of Progressive Renal Disease in Children

Schnaper, H. W. (2015) · Springer eBooks · doi:10.1007/978-3-662-43596-0_58 · Cited by 6 · see citing works

Age at disease onset and risk of chronic kidney disease in patients with heterozygous disease-causing variants in COL4A3 and COL4A4

Hu, N., Sun, L., Dai, X., Zhao, Z., Zhang, X., Rao, J., Zhou, X., Fang, Y., Shi, Y., Jin, S., et al. (2025) · Clinical Kidney Journal · doi:10.1093/ckj/sfaf272 · Cited by 5 · see citing works

Lack of collagen α6(IV) chain in mice does not cause severe-to-profound hearing loss or cochlear malformation, a distinct phenotype from nonsyndromic hearing loss with COL4A6 missense mutation

Tang, S., Yonezawa, T., Maeda, Y., Ono, M., Maeba, T., Miyoshi, T., Momota, R., Tomono, Y., & Oohashi, T. (2021) · PLoS ONE · doi:10.1371/journal.pone.0249909 · Cited by 5 · see citing works

Spontaneous absorption of congenital cataract in trisomy 21

Drechsler, J., Wei, L., Mohammed, T. K., Levin, M. R., & Alexander, J. L. (2021) · Journal of American Association for Pediatric Ophthalmology and Strabismus · doi:10.1016/j.jaapos.2021.05.015 · Cited by 5 · see citing works

A Novel Heterozygous Mutation of theCOL4A3Gene Causes a Peculiar Phenotype without Hematuria and Renal Function Impairment in a Chinese Family

Xia, L., Cao, Y.-J., Guo, Y., Ba, G., Luo, Q., Shi, H., Feng, Y., & Yin, S. (2019) · Disease Markers · doi:10.1155/2019/8705989 · Cited by 5 · see citing works

Alport syndrome: Proteomic analysis identifies early molecular pathway alterations in Col4a3 knock out mice

Nicolaou, O., Kousios, A., Sokratous, K., Potamiti, L., Koniali, L., Neophytou, G., Papacharalampous, R., Zanti, M., Ioannou, K. I., Hadjisavvas, A., et al. (2020) · Nephrology · doi:10.1111/nep.13764 · Cited by 5 · see citing works

Effects of a Novel COL4A3 Homozygous/Heterozygous Splicing Mutation on the Mild Phenotype in a Family With Autosomal Recessive Alport Syndrome and a Literature Review

Chen, D., Zhang, L., Rao, J., Zhou, Y., Dai, L., Huang, S., Yang, C., Bian, Q., Zhang, T., & Yang, X. (2025) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.70053 · Cited by 4 · see citing works

Pathophysiology of Progressive Renal Disease in Children

Schnaper, H. W. (2015) · Springer eBooks · doi:10.1007/978-3-642-27843-3_58-1 · Cited by 4 · see citing works

Glomerular Elastic Modulus and Gene Expression Patterns Define Two Phases of Alport NephropathyPreprint

Yoon, J., Liu, Z., Alaba, M. O., Bruggeman, L. A., Janmey, P. A., Arana, C. A., Ayenuyo, O., Medeiros, I. N., Eddy, S. F., Kretzler, M., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.02.26.582201 · Cited by 4 · see citing works

New insights into disorders of basement membranes and integrins of the kidney

Pozzi, A., & Zent, R. (2014) · Drug Discovery Today Disease Models · doi:10.1016/j.ddmod.2014.07.003 · Cited by 2 · see citing works

Identification of COL4A4 variants in Chinese patients with familial hematuria

Gao, Y., Yuan, L., Yuan, J., Yang, Y. L., Wang, J., Chen, Y., Zhang, H., Ai, Y., & Deng, H. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2022.1064491 · Cited by 2 · see citing works

Hypothesis as to How a Common Missense Mutation in COL4A3 May Confer Protection against Diabetic Kidney Disease

Pieri, M. (2020) · Journal of the American Society of Nephrology · doi:10.1681/asn.2019090966 · Cited by 2 · see citing works

The chemical chaperone 4-phenylbutyric acid rescues molecular cell defects of COL3A1 mutations that cause vascular Ehlers Danlos SyndromePreprint

Omar, R., Lee, M., Gonzalez-Trueba, L., Lianos, S., Hazarika, S., Ammar, M. A., Cassels, J. E., Michie, A. M., Bulleid, N. J., Malfait, F., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.06.20.599980 · Cited by 2 · see citing works

Association of PLCE1 (rs7922612) and COL4A3 (rs375290088) Genetic Variants with the Risk of Nephrotic Syndrome in Egyptian Pediatric Patients

Mokhtar, W. A., Elsaid, A. M. M., El-Refaey, A. M., Saleh, M. M., & Youssef, M. M. (2024) · Biochemical Genetics · doi:10.1007/s10528-024-10883-6 · Cited by 1 · see citing works

Shining a Light on Alport Syndrome

Hale, L. J., & Little, M. H. (2018) · Cell chemical biology · doi:10.1016/j.chembiol.2018.05.001 · Cited by 1 · see citing works

A Split-luciferase-based Trimer Formation Assay as a High-throughput Screening Platform for Therapeutics in Alport SyndromePreprint

Omachi, K., Kamura, M., Teramoto, K., Kojima, H., Yokota, T., Kaseda, S., Kuwazuru, J., Fukuda, R., Koyama, K., Matsuyama, S., et al. (2018) · SSRN Electronic Journal · doi:10.2139/ssrn.3151991

Identification of Novel Therapeutic Approaches to the Progression of Chronic Kidney Disease

Williams, V. R. (2020) · TSpace (University of Toronto)

Faculty Opinions recommendation of Endoplasmic reticulum-associated degradation is required for nephrin maturation and kidney glomerular filtration function.

Cybulsky, A. V. (2021) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.739567860.793588958

Faculty Opinions recommendation of 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.

Briggs, M. D. (2020) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.730230409.793573479

Einfluss einer fettreichen Ernährung auf eine funktionelle Einzelniere mit den Risiko-Genvarianten COL4A3 +/- und NPHS +/R140Q im Mausmodell

Breier, K. (2022) · doi:10.53846/goediss-9555

Minnelide ameliorates Col4a5+/− mice by upregulating Col4a5 and alleviating endoplasmic reticulum stress

Ji, B., Liu, J.-C., Wang, X., Yin, Y., Zhang, J., Wen, F.-J., Xu, H., Shen, Q., & Yu, J. (2026) · Frontiers in Pharmacology · doi:10.3389/fphar.2026.1761502

COL12A1 rs970547 Polymorphism Predisposes Anterior Cruciate Ligament Injury by Inducing ER Stress and Impairing Fibroblast Function

Zhao, W., Chen, H., Wang, J., Li, Y., Chen, R., & Zhou, J. (2026) · Advanced Biology · doi:10.1002/adbi.202500655

Genetic heterogeneity correlated with phenotypic variability in 6 Chinese families with Alport syndrome

Gao, J., Zhou, H., Zhang, L., Su, Z., & Liu, S. (2026) · Frontiers in Genetics · doi:10.3389/fgene.2026.1840344

Quantifying associations of genotype, proteinuria and eGFR with long-term kidney outcomes in Alport Syndrome using data from the UK National Registry of Rare Kidney Diseases (RaDaR)Preprint

Wong, K., Pitcher, D., Masoud, S., Tzoumkas, K., Branson, A., Oates, T. M., Gear, S., Russell, H., Francke, K., Inan-Eroglu, E., et al. (2026) · medRxiv · doi:10.64898/2026.06.08.26355110

Decoding Alport Syndrome: From COL4A3-COL4A5 Molecular Pathogenesis to Precision Therapeutics

Toor, N. S., Haneef, M., Kosey, S., & Jindal, J. (2026) · SN Comprehensive Clinical Medicine · doi:10.1007/s42399-026-02504-7

Proteostasis in Podocytes: Role of Cargo Receptor Surf4 and Collagen IV TraffickingPreprint

Cybulsky, A. V., Papillon, J., Bilogui, C.-L. K., & Shih, R. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.09.30.755739

Endoplasmic reticulum stress and proteasome pathway involvement in human podocyte injury with a truncated COL4A3 mutation

Zhang, H., Huang, J.-N., Liu, Y., Ren, H., Xie, J., & Chen, N. (2019) · Chinese Medical Journal · doi:10.1097/cm9.0000000000000294 · Cited by 16 · see citing works

Frequency of COL4A3/COL4A4 Mutations amongst Families Segregating Glomerular Microscopic Hematuria and Evidence for Activation of the Unfolded Protein Response. Focal and Segmental Glomerulosclerosis Is a Frequent Development during Ageing

Papazachariou, L., Demosthenous, P., Pieri, M., Papagregoriou, G., Savva, I., Stavrou, C., Zavros, M., Athanasiou, Y., Ioannou, K. I., Patsias, C., et al. (2014) · PLoS ONE · doi:10.1371/journal.pone.0115015 · Cited by 72 · see citing works

Glomerular Elastic Modulus and Gene Expression Patterns Define Two Phases of Alport NephropathyPreprint

Yoon, J., Liu, Z., Alaba, M. O., Bruggeman, L. A., Janmey, P. A., Arana, C. A., Ayenuyo, O., Medeiros, I. N., Eddy, S. F., Kretzler, M., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.02.26.582201 · Cited by 4 · see citing works

Nidogen-2 in der Pathogenese Kollagen IV-assoziierter Nephropathien bei zusätzlicher Podocin-Mutation

Prinz, C. (2016) · doi:10.53846/goediss-5989

FO058ENDOPLASMIC RETICULUM STRESS-UNFOLDING PROTEIN RESPONSE-APOPTOSIS CASCADE CAUSES PODOCYTE INJURY IN CRISPR/CAS9 TECHONOLOGY MODIFIED COL4A3 KNOCKOUT MOUSE PODOCYTE LINE AND A NEW COL4A3 KNOCKOUT MOUSE MODEL

Zhang, H., Huang, J., Liu, Y., Ren, H., Xie, J., & Chen, N. (2018) · Nephrology Dialysis Transplantation · doi:10.1093/ndt/gfy104.fo058