ArticleCell & bioscience2015
The actinin family of actin cross-linking proteins - a genetic perspective.
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 67 papers.
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Who cites it
67 citing papers in PubMed, 138 citations in OpenAlex.
- BUB1 regulates cell proliferation and apoptosis in cervical cancer by AKT signaling and autophagosome-lysosome fusion via ACTN1.iScience · 2026Article
- Cell-cycle regulation of sarcomere integrity-Role for Actn2 phosphorylation.Physiological reports · 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
- STAHD: a scalable and accurate method to detect spatial domains in high-resolution spatial transcriptomics data.Bioinformatics (Oxford, England) · 2026Article
- Integrative single-cell and bulk RNA sequencing unravels the role of ACTN1 in promoting lung cancer with brain metastasis and epidermal growth factor receptor-tyrosine kinase inhibitor resistance.Frontiers in cell and developmental biology · 2026Article
- Integrative Transcriptomic and Proteomic Analysis RevealsAnimals : an open access journal from MDPI · 2025Article
- Astrocyte Transcriptomics in a Three-Dimensional Tissue-Engineered Rostral Migratory Stream.Cells · 2025Article
- Testicular stage- and cell-specific expression of F-actin-binding proteins†.Biology of reproduction · 2025Article
- α-Actinin-1 in Megakaryocytes: Its Structure, Interacting Proteins and Implications for Thrombopoiesis.Biomedicines · 2025Review
- Review
- α-Actinin-1 deficiency in megakaryocytes causes low platelet count, platelet dysfunction, and mitochondrial impairment.Blood advances · 2025Article
- Exploring the potential role of palladin in modulating human CAF/ECM functional units.Cytoskeleton (Hoboken, N.J.) · 2025Review
- ACTN1 promotes cell invasion, migration, and EMT in thyroid cancer and is associated with immune infiltration.Scientific reports · 2024Article
- Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.Annals of clinical and translational neurology · 2024Article
- A transcriptional enhancer regulates cardiac maturation.Nature cardiovascular research · 2024Article
- Genetic Variations in Susceptibility to Traumatic Muscle Injuries and Muscle Pain among Brazilian High-Performance Athletes.International journal of molecular sciences · 2024Article
- Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.Annals of clinical and translational neurology · 2024Article
- Identification of Candidate Genes and Pathways Linked to the Temperament Trait in Sheep.Genes · 2024Article
- Protein tyrosine phosphatase 1B is a regulator of alpha-actinin4 in the glomerular podocyte.Biochimica et biophysica acta. Molecular cell research · 2024Article
- ACTN1 promotes HNSCC tumorigenesis and cisplatin resistance by enhancing MYH9-dependent degradation of GSK-3β and integrin β1-mediated phosphorylation of FAK.Journal of experimental & clinical cancer research : CR · 2023Article
7 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Actinins are one of the major actin cross-linking proteins found in virtually all cell types and are the ancestral proteins of a larger family that includes spectrin, dystrophin and utrophin. Invertebrates have a single actinin-encoding ACTN gene, while mammals have four. Mutations in all four human genes have now been linked to heritable diseases or traits. ACTN1 mutations cause macrothrombocytopenia, a platelet disorder characterized by excessive bleeding. ACTN2 mutations have been linked to a range of cardiomyopathies, and ACTN4 mutations cause a kidney condition called focal segmental glomerulosclerosis. Intriguingly, approximately 16 % of people worldwide are homozygous for a nonsense mutation in ACTN3 that abolishes actinin-3 protein expression. This ACTN3 null allele has undergone recent positive selection in specific human populations, which may be linked to improved endurance and adaptation to colder climates. In this review we discuss the human genetics of the ACTN gene family, as well as ACTN gene knockout studies in several model organisms. Observations from both of these areas provide insights into the evolution and cellular functions of actinins.
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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.