ArticleCell & bioscience2015
The role of alpha-actinin-4 in human kidney disease.
Article in Cell & bioscience, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
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Who cites it
41 citing papers in PubMed, 63 citations in OpenAlex.
- Defining the human lung pathodegradome of the V8 protease fromInfection and immunity · 2026Article
- Alpha-Actinin-3 Deficiency Links Genetic Susceptibility to Renal Fibrosis: Evidence From Hemodialysis Patients and Murine Models.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- Untargeted Urinary Proteomics Uncovers Nephroprotective and Systemic Adaptations after Obesity Surgery-Induced Weight Loss.Journal of proteome research · 2026Article
- Review
- Dysregulated Anaerobic Glycolysis in Podocytes is Relevant to the Progression of Focal Segmental Glomerulosclerosis.Kidney international reports · 2025Article
- Novel WT1 and ACTN4 co-mutations in a patient with Denys-Drash syndrome and an atypical, potentially attenuated presentation of nephropathy: a case report.BMC nephrology · 2025Article
- Structural and functional insights into α-actinin isoforms and their implications in cardiovascular disease.The Journal of general physiology · 2025Review
- The FSGS protein actinin-4 interacts with NKCC2 to regulate thick ascending limb NaCl reabsorption.American journal of physiology. Renal physiology · 2024Article
- Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.Annals of clinical and translational neurology · 2024Article
- Protein tyrosine phosphatase 1B is a regulator of alpha-actinin4 in the glomerular podocyte.Biochimica et biophysica acta. Molecular cell research · 2024Article
- Phenotype-Genotype Correlations in Three Different Cases of Adult-Onset Genetic Focal Segmental Glomerulosclerosis.International journal of molecular sciences · 2023Article
- Article
- Modeling ofKidney international reports · 2023Article
- Alpha-actnin-4 (ACTN4) selectively affects the DNA double-strand breaks repair in non-small lung carcinoma cells.Biology direct · 2022Article
- α-Actinin-4 recruits Shp2 into focal adhesions to potentiate ROCK2 activation in podocytes.Life science alliance · 2022Article
- Cytoskeletal protein degradation in brain death donor kidneys associates with adverse posttransplant outcomes.American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons · 2022Article
- Case report and literature review: AFrontiers in pediatrics · 2022Article
- Prediction of Tacrolimus Dose/Weight-Adjusted Trough Concentration in Pediatric Refractory Nephrotic Syndrome: A Machine Learning Approach.Pharmacogenomics and personalized medicine · 2022Article
- Renal cell markers: lighthouses for managing renal diseases.American journal of physiology. Renal physiology · 2021Article
- Review
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
Mutations in the Alpha-actinin-4 gene (ACTN4) cause a rare form of familial focal segmental glomerulosclerosis in humans. Individuals with kidney disease-associated ACTN4 mutations tend to have mild to moderate proteinuria, with many developing decreased kidney function progressing to end stage kidney disease. All of the disease-causing ACTN4 mutations identified to date are located within the actin-binding domain of the encoded protein, increasing its binding affinity to F-actin and leading to abnormal actin rich cellular aggregates. The identification of ACTN4 mutations as a cause of human kidney disease demonstrates a key cellular pathway by which alterations in cytoskeletal behavior can mediate kidney disease. Here we review the studies relevant to ACTN4 and its role in mediating kidney disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.