Associated Papers
Early use of renin-angiotensin-aldosterone system inhibitors and stable renal function in familial focal segmental glomerulosclerosis with ACTN4 mutation: a case report and literature review.
Miyasako K et al.
Bmc Nephrology, 2025
A pediatric-onset case of chronic kidney disease caused by a novel sporadic ACTN4 variant and literature review.
Li W et al.
The Turkish Journal of Pediatrics, 2025
Association of ACTN4 Gene Mutation with Primary Nephrotic Syndrome in Children in Guangxi Autonomous Region, China.
Cao S et al.
Genetic Testing and Molecular Biomarkers, 2024
Case report and literature review: A de novo pathogenic missense variant in ACTN4 gene caused rapid progression to end-stage renal disease.
He Z et al.
Frontiers in Pediatrics, 2022
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021
The functional landscape of the human phosphoproteome.
Ochoa D et al.
Nature Biotechnology, 2020
Focal segmental glomerulosclerosis ACTN4 mutants binding to actin: regulation by phosphomimetic mutations.
Shao H et al.
Scientific Reports, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Proteostasis as a therapeutic target in glomerular injury associated with mutant α-actinin-4.
Yee A et al.
American Journal of Physiology. Renal Physiology, 2018
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.
Bierzynska A et al.
Kidney International, 2017
α Actinin 4 (ACTN4) Regulates Glucocorticoid Receptor-mediated Transactivation and Transrepression in Podocytes.
Zhao X et al.
The Journal of Biological Chemistry, 2017
Functional Validation of an Alpha-Actinin-4 Mutation as a Potential Cause of an Aggressive Presentation of Adolescent Focal Segmental Glomerulosclerosis: Implications for Genetic Testing.
Feng D et al.
Plos One, 2016
The role of alpha-actinin-4 in human kidney disease.
Feng D et al.
Cell & Bioscience, 2015
The actinin family of actin cross-linking proteins - a genetic perspective.
Murphy AC et al.
Cell & Bioscience, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Rapid progression to end-stage renal disease in a child with a sporadic ACTN4 mutation.
Kakajiwala AK et al.
Clinical Nephrology. Case Studies, 2015
Disease-associated substitutions in the filamin B actin binding domain confer enhanced actin binding affinity in the absence of major structural disturbance: Insights from the crystal structures of filamin B actin binding domains.
Sawyer GM et al.
Journal of Molecular Biology, 2009
ACTN4 gene mutations and single nucleotide polymorphisms in idiopathic focal segmental glomerulosclerosis.
Dai S et al.
Nephron. Clinical Practice, 2009
Familial focal segmental glomerulosclerosis associated with an ACTN4 mutation and paternal germline mosaicism.
Choi HJ et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2008
Crystal structure of the actin-binding domain of alpha-actinin-4 Lys255Glu mutant implicated in focal segmental glomerulosclerosis.
Lee SH et al.
Journal of Molecular Biology, 2008
Disease-associated mutant alpha-actinin-4 reveals a mechanism for regulating its F-actin-binding affinity.
Weins A et al.
Proceedings of the National Academy of Sciences of the United States of America, 2007
Mutational and Biological Analysis of alpha-actinin-4 in focal segmental glomerulosclerosis.
Weins A et al.
Journal of the American Society of Nephrology : Jasn, 2005