{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T05:45:38Z","timestamp":1792129538433,"version":"4.4.0"},"reference-count":51,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2026,12,1]],"date-time":"2026-12-01T00:00:00Z","timestamp":1796083200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,12,1]],"date-time":"2026-12-01T00:00:00Z","timestamp":1796083200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T00:00:00Z","timestamp":1791504000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003827","name":"Nemzeti Kutat\u00e1si Fejleszt\u00e9si \u00e9s Innov\u00e1ci\u00f3s Hivatal","doi-asserted-by":"publisher","award":["2019-2.1.7-ERA-NET-2020-0001"],"award-info":[{"award-number":["2019-2.1.7-ERA-NET-2020-0001"]}],"id":[{"id":"10.13039\/501100003827","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010661","name":"Horizon 2020 Framework Programme","doi-asserted-by":"publisher","award":["2019-2.1.7-ERA-NET-2020-0001"],"award-info":[{"award-number":["2019-2.1.7-ERA-NET-2020-0001"]}],"id":[{"id":"10.13039\/100010661","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100015498","name":"Innov\u00e1ci\u00f3s \u00e9s Technol\u00f3giai Miniszt\u00e9rium","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100015498","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002332","name":"Semmelweis Egyetem","doi-asserted-by":"publisher","award":["TKP2021-EGA-23"],"award-info":[{"award-number":["TKP2021-EGA-23"]}],"id":[{"id":"10.13039\/501100002332","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Cell Biology"],"published-print":{"date-parts":[[2026,12]]},"DOI":"10.1016\/j.ejcb.2026.151577","type":"journal-article","created":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T23:18:10Z","timestamp":1791587890000},"page":"151577","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Non-muscle actinopathy-associated loss-of-function actin variants modulate cytoskeletal reorganization"],"prefix":"10.1016","volume":"105","author":[{"given":"\u00c9va","family":"Gr\u00e1czer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kira","family":"Dakos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tam\u00e1s","family":"Boz\u00f3","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katalin","family":"P\u00e1szty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nataliya","family":"Di Donato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikl\u00f3s","family":"Kellermayer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9076-7007","authenticated-orcid":false,"given":"Andrea","family":"Varga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejcb.2026.151577_bib1","doi-asserted-by":"crossref","first-page":"1243","DOI":"10.1107\/S0907444906029799","article-title":"A time- and cost-efficient system for high-level protein production in mammalian cells","volume":"62","author":"Aricescu","year":"2006","journal-title":"Acta Crystallogr. D. Biol. Crystallogr."},{"key":"10.1016\/j.ejcb.2026.151577_bib2","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.82015","article-title":"Structural insights into actin isoforms","volume":"12","author":"Arora","year":"2023","journal-title":"Elife"},{"key":"10.1016\/j.ejcb.2026.151577_bib3","doi-asserted-by":"crossref","first-page":"2715","DOI":"10.1038\/s44318-024-00114-4","article-title":"Focal adhesions are controlled by microtubules through local contractility regulation","volume":"43","author":"Aureille","year":"2024","journal-title":"EMBO J."},{"key":"10.1016\/j.ejcb.2026.151577_bib4","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1002\/humu.23970","article-title":"Further delineation of putative ACTB loss-of-function variants: A 4-patient series","volume":"41","author":"Baumann","year":"2020","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ejcb.2026.151577_bib5","article-title":"Extreme phenotypic variability of ACTG1-related disorders in hearing loss","volume":"5","author":"Bernardi","year":"2024","journal-title":"Adv. Genet."},{"key":"10.1016\/j.ejcb.2026.151577_bib6","doi-asserted-by":"crossref","first-page":"1590","DOI":"10.3390\/cells9071590","article-title":"Non-muscle myosin 2A (NM2A): structure, regulation and function","volume":"9","author":"Brito","year":"2020","journal-title":"Cells"},{"key":"10.1016\/j.ejcb.2026.151577_bib7","doi-asserted-by":"crossref","DOI":"10.1242\/dev.163766","article-title":"Neuronal migration in the CNS during development and disease: insights from in vivo and in vitro models","volume":"146","author":"Buchsbaum","year":"2019","journal-title":"Development"},{"key":"10.1016\/j.ejcb.2026.151577_bib8","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1016\/j.ajhg.2017.11.006","article-title":"ACTB loss-of-function mutations result in a pleiotropic developmental disorder","volume":"101","author":"Cuvertino","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejcb.2026.151577_bib9","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1556\/650.2026.33533","article-title":"[Overview of cytoskeletal actin mutations associated with rare diseases]","volume":"167","author":"Dakos","year":"2026","journal-title":"Orv. Hetil."},{"key":"10.1016\/j.ejcb.2026.151577_bib10","article-title":"Quantifying cytoskeletal organization from optical microscopy data","volume":"11","author":"Desroches","year":"2023","journal-title":"Front. Cell. Dev. Biol."},{"key":"10.1016\/j.ejcb.2026.151577_bib11","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1016\/j.ajhg.2025.12.007","article-title":"Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies","volume":"113","author":"Di Donato","year":"2026","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejcb.2026.151577_bib12","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.devcel.2018.12.020","article-title":"Polarization of myosin ii refines tissue material properties to buffer mechanical stress","volume":"48","author":"Duda","year":"2019","journal-title":"Dev. Cell."},{"key":"10.1016\/j.ejcb.2026.151577_bib13","doi-asserted-by":"crossref","first-page":"11602","DOI":"10.1021\/bi000985x","article-title":"Stabilization of the actomyosin complex by negative charges on myosin","volume":"39","author":"Furch","year":"2000","journal-title":"Biochemistry"},{"key":"10.1016\/j.ejcb.2026.151577_bib14","doi-asserted-by":"crossref","first-page":"1931","DOI":"10.1038\/nprot.2014.131","article-title":"Quantitative and unbiased analysis of directional persistence in cell migration","volume":"9","author":"Gorelik","year":"2014","journal-title":"Nat. Protoc."},{"key":"10.1016\/j.ejcb.2026.151577_bib15","doi-asserted-by":"crossref","DOI":"10.1096\/fj.202502196R","article-title":"The baraitser-winter cerebrofrontofacial syndrome recurrent r196h variant in cytoplasmic beta-actin impairs its cellular polymerization and stability","volume":"40","author":"Graczer","year":"2026","journal-title":"FASEB J."},{"key":"10.1016\/j.ejcb.2026.151577_bib16","doi-asserted-by":"crossref","first-page":"4898","DOI":"10.1111\/febs.70018","article-title":"Molecular mechanisms of hotspot variants in cytoskeletal beta-actin associated with Baraitser-Winter syndrome","volume":"292","author":"Greve","year":"2025","journal-title":"FEBS J."},{"key":"10.1016\/j.ejcb.2026.151577_bib17","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.93013","article-title":"The non-muscle actinopathy-associated mutation E334Q in cytoskeletal gamma-actin perturbs interaction of actin filaments with myosin and ADF\/cofilin family proteins","volume":"12","author":"Greve","year":"2024","journal-title":"Elife"},{"key":"10.1016\/j.ejcb.2026.151577_bib18","doi-asserted-by":"crossref","DOI":"10.1016\/j.isci.2025.113652","article-title":"Multiscale characterization of Caenorhabditis elegans mutants to probe functional mechanisms of human actin pathological variants","volume":"28","author":"Hecquet","year":"2025","journal-title":"iScience"},{"key":"10.1016\/j.ejcb.2026.151577_bib19","doi-asserted-by":"crossref","first-page":"8989","DOI":"10.3390\/ijms22168989","article-title":"BRAF modulates stretch-induced intercellular gap formation through localized actin reorganization","volume":"22","author":"Hollosi","year":"2021","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.ejcb.2026.151577_bib20","doi-asserted-by":"crossref","first-page":"1478","DOI":"10.1073\/pnas.1915987117","article-title":"Structures of cofilin-induced structural changes reveal local and asymmetric perturbations of actin filaments","volume":"117","author":"Huehn","year":"2020","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ejcb.2026.151577_bib21","doi-asserted-by":"crossref","first-page":"1868","DOI":"10.1063\/1.1143970","article-title":"Calibration of atomic-force microscope tips","volume":"64","author":"Hutter","year":"1993","journal-title":"Rev. Sci. Instrum."},{"key":"10.1016\/j.ejcb.2026.151577_bib22","doi-asserted-by":"crossref","first-page":"1926","DOI":"10.3390\/cells9091926","article-title":"Conventional and non-conventional roles of non-muscle myosin ii-actin in neuronal development and degeneration","volume":"9","author":"Javier-Torrent","year":"2020","journal-title":"Cells"},{"key":"10.1016\/j.ejcb.2026.151577_bib23","doi-asserted-by":"crossref","first-page":"2665","DOI":"10.1529\/biophysj.106.085456","article-title":"Spatially and temporally synchronized atomic force and total internal reflection fluorescence microscopy for imaging and manipulating cells and biomolecules","volume":"91","author":"Kellermayer","year":"2006","journal-title":"Biophys. J."},{"key":"10.1016\/j.ejcb.2026.151577_bib24","doi-asserted-by":"crossref","DOI":"10.1088\/1361-6404\/aa5cd6","article-title":"Atomic force microscopy for university students: applications in biomaterials","volume":"38","author":"Kontomaris","year":"2017","journal-title":"Eur. J. Phys."},{"key":"10.1016\/j.ejcb.2026.151577_bib25","doi-asserted-by":"crossref","first-page":"5226","DOI":"10.3390\/cancers13205226","article-title":"Characterization of microtubule destabilizing drugs: a quantitative cell-based assay that bridges the gap between tubulin based- and cytotoxicity assays","volume":"13","author":"Laisne","year":"2021","journal-title":"Cancers"},{"key":"10.1016\/j.ejcb.2026.151577_bib26","doi-asserted-by":"crossref","first-page":"165","DOI":"10.3389\/fncel.2018.00165","article-title":"The role of the microtubule cytoskeleton in neurodevelopmental disorders","volume":"12","author":"Lasser","year":"2018","journal-title":"Front. Cell. Neurosci."},{"key":"10.1016\/j.ejcb.2026.151577_bib27","doi-asserted-by":"crossref","first-page":"4250","DOI":"10.1038\/s41467-018-06713-0","article-title":"Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia","volume":"9","author":"Latham","year":"2018","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ejcb.2026.151577_bib28","doi-asserted-by":"crossref","DOI":"10.1242\/jcs.259089","article-title":"New insights into FAK structure and function in focal adhesions","volume":"135","author":"Le Coq","year":"2022","journal-title":"J. Cell. Sci."},{"key":"10.1016\/j.ejcb.2026.151577_bib29","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/B978-0-12-391857-4.00009-4","article-title":"Methods for cell and particle tracking","volume":"504","author":"Meijering","year":"2012","journal-title":"Methods Enzymol."},{"key":"10.1016\/j.ejcb.2026.151577_bib30","doi-asserted-by":"crossref","first-page":"863","DOI":"10.3389\/fcell.2020.00863","article-title":"Forces to drive neuronal migration steps","volume":"8","author":"Minegishi","year":"2020","journal-title":"Front. Cell. Dev. Biol."},{"key":"10.1016\/j.ejcb.2026.151577_bib31","doi-asserted-by":"crossref","first-page":"7056","DOI":"10.1038\/s41598-020-63690-5","article-title":"Novel ACTG1 mutations in patients identified by massively parallel DNA sequencing cause progressive hearing loss","volume":"10","author":"Miyajima","year":"2020","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ejcb.2026.151577_bib32","first-page":"1495","article-title":"Non-muscle myosin II in disease: mechanisms and therapeutic opportunities","volume":"8","author":"Newell-Litwa","year":"2015","journal-title":"Dis. Model. Mech."},{"key":"10.1016\/j.ejcb.2026.151577_bib33","doi-asserted-by":"crossref","DOI":"10.1016\/j.cdev.2021.203736","article-title":"Crosstalk between myosin II and formin functions in the regulation of force generation and actomyosin dynamics in stress fibers","volume":"168","author":"Nishimura","year":"2021","journal-title":"Cells Dev."},{"key":"10.1016\/j.ejcb.2026.151577_bib34","doi-asserted-by":"crossref","first-page":"893","DOI":"10.1016\/j.tcb.2024.12.009","article-title":"Structural insights into actin filament turnover","volume":"35","author":"Oosterheert","year":"2025","journal-title":"Trends Cell. Biol."},{"key":"10.1016\/j.ejcb.2026.151577_bib35","doi-asserted-by":"crossref","DOI":"10.1126\/science.adn9560","article-title":"Molecular mechanism of actin filament elongation by formins","volume":"384","author":"Oosterheert","year":"2024","journal-title":"Science"},{"key":"10.1016\/j.ejcb.2026.151577_bib36","doi-asserted-by":"crossref","DOI":"10.1016\/j.ceb.2023.102214","article-title":"Sculpting the dendritic landscape: actin, microtubules, and the art of arborization","volume":"84","author":"Ouzounidis","year":"2023","journal-title":"Curr. Opin. Cell. Biol."},{"key":"10.1016\/j.ejcb.2026.151577_bib37","doi-asserted-by":"crossref","first-page":"7973","DOI":"10.1073\/pnas.1807895115","article-title":"Essential nucleotide- and protein-dependent functions of Actb\/beta-actin","volume":"115","author":"Patrinostro","year":"2018","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ejcb.2026.151577_bib38","doi-asserted-by":"crossref","first-page":"947","DOI":"10.1086\/504271","article-title":"A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia","volume":"78","author":"Procaccio","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejcb.2026.151577_bib39","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1007\/s00401-020-02244-5","article-title":"Intellectual disability: dendritic anomalies and emerging genetic perspectives","volume":"141","author":"Quach","year":"2021","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.ejcb.2026.151577_bib40","doi-asserted-by":"crossref","DOI":"10.1103\/PhysRevE.72.021914","article-title":"Probing mechanical properties of living cells by atomic force microscopy with blunted pyramidal cantilever tips","volume":"72","author":"Rico","year":"2005","journal-title":"Phys. Rev. E Stat. Nonlin Soft Matter Phys."},{"key":"10.1016\/j.ejcb.2026.151577_bib41","doi-asserted-by":"crossref","first-page":"2158","DOI":"10.1128\/MCB.17.4.2158","article-title":"Characterization of a beta-actin mRNA zipcode-binding protein","volume":"17","author":"Ross","year":"1997","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.ejcb.2026.151577_bib42","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1016\/j.ejcb.2011.05.002","article-title":"Actin: from structural plasticity to functional diversity","volume":"90","author":"Schoenenberger","year":"2011","journal-title":"Eur. J. Cell. Biol."},{"key":"10.1016\/j.ejcb.2026.151577_bib43","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/j.neuron.2009.05.028","article-title":"Myosin II motors and F-actin dynamics drive the coordinated movement of the centrosome and soma during CNS glial-guided neuronal migration","volume":"63","author":"Solecki","year":"2009","journal-title":"Neuron"},{"key":"10.1016\/j.ejcb.2026.151577_bib44","doi-asserted-by":"crossref","first-page":"1860","DOI":"10.1038\/s41467-018-04290-w","article-title":"Structural basis for cofilin binding and actin filament disassembly","volume":"9","author":"Tanaka","year":"2018","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ejcb.2026.151577_bib45","doi-asserted-by":"crossref","first-page":"1430","DOI":"10.3390\/biom13101430","article-title":"Regulation of cell adhesion and migration via microtubule cytoskeleton organization, cell polarity, and phosphoinositide signaling","volume":"13","author":"Thapa","year":"2023","journal-title":"Biomolecules"},{"key":"10.1016\/j.ejcb.2026.151577_bib46","doi-asserted-by":"crossref","first-page":"279","DOI":"10.3390\/biom15020279","article-title":"Multiple mechanisms to regulate actin functions: \"fundamental\" versus lineage-specific mechanisms and hierarchical relationships","volume":"15","author":"Uyeda","year":"2025","journal-title":"Biomolecules"},{"key":"10.1016\/j.ejcb.2026.151577_bib47","doi-asserted-by":"crossref","first-page":"720","DOI":"10.1038\/276720a0","article-title":"The amino acid sequence of Physarum actin","volume":"276","author":"Vandekerckhove","year":"1978","journal-title":"Nature"},{"key":"10.1016\/j.ejcb.2026.151577_bib48","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.31661","article-title":"Diverse functions of homologous actin isoforms are defined by their nucleotide, rather than their amino acid sequence","volume":"6","author":"Vedula","year":"2017","journal-title":"Elife"},{"key":"10.1016\/j.ejcb.2026.151577_bib49","doi-asserted-by":"crossref","unstructured":"Vedula, P., Fina, M.E., Bell, B.A., Nikonov, S.S., Kashina, A., Dong, D.W., 2023. beta -actin is essential for structural integrity and physiological function of the retina. bioRxiv. https:\/\/doi.org\/10.1101\/2023.03.27.534392.","DOI":"10.1101\/2023.03.27.534392"},{"key":"10.1016\/j.ejcb.2026.151577_bib50","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1038\/ejhg.2014.95","article-title":"Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases","volume":"23","author":"Verloes","year":"2015","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ejcb.2026.151577_bib51","doi-asserted-by":"crossref","first-page":"724","DOI":"10.1038\/nature18295","article-title":"Cryo-EM structure of a human cytoplasmic actomyosin complex at near-atomic resolution","volume":"534","author":"von der Ecken","year":"2016","journal-title":"Nature"}],"container-title":["European Journal of Cell Biology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0171933526000488?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0171933526000488?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T04:58:00Z","timestamp":1792126680000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0171933526000488"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,12]]},"references-count":51,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2026,12]]}},"alternative-id":["S0171933526000488"],"URL":"https:\/\/doi.org\/10.1016\/j.ejcb.2026.151577","relation":{},"ISSN":["0171-9335"],"issn-type":[{"value":"0171-9335","type":"print"}],"subject":[],"published":{"date-parts":[[2026,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Non-muscle actinopathy-associated loss-of-function actin variants modulate cytoskeletal reorganization","name":"articletitle","label":"Article Title"},{"value":"European Journal of Cell Biology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejcb.2026.151577","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 The Author(s). Published by Elsevier GmbH.","name":"copyright","label":"Copyright"}],"article-number":"151577"}}