{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T13:54:36Z","timestamp":1782568476855,"version":"3.54.5"},"reference-count":38,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2023,5,10]],"date-time":"2023-05-10T00:00:00Z","timestamp":1683676800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/100013465","name":"French Muscular Dystrophy Association","doi-asserted-by":"publisher","award":["#21644"],"award-info":[{"award-number":["#21644"]}],"id":[{"id":"10.13039\/100013465","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100017590","name":"Universit\u00e4tsklinikum Essen","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100017590","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100014690","name":"Ministerium f\u00fcr Kultur und Wissenschaft des Landes Nordrhein-Westfalen","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100014690","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Regierenden B\u00fcrgermeister von Berlin - Senatskanzlei Wissenschaft und Forschung"},{"DOI":"10.13039\/501100002347","name":"Bundesministerium f\u00fcr Bildung und Forschung\u2019","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["FDN-167281"],"award-info":[{"award-number":["FDN-167281"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["ERT-174211"],"award-info":[{"award-number":["ERT-174211"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Canadian Institutes of Health Research and Muscular Dystrophy Canada"},{"name":"Network Catalyst Grant","award":["NMD4C NG2-170044"],"award-info":[{"award-number":["NMD4C NG2-170044"]}]},{"DOI":"10.13039\/501100000196","name":"Canada Foundation for Innovation","doi-asserted-by":"publisher","award":["CFI-JELF 38412"],"award-info":[{"award-number":["CFI-JELF 38412"]}],"id":[{"id":"10.13039\/501100000196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001804","name":"Canada Research Chairs program","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001804","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Canada Research Chair in Neuromuscular Genomics and Health","award":["950-232279"],"award-info":[{"award-number":["950-232279"]}]},{"name":"Solve-RD"},{"name":"European Union\u2019s Horizon 2020","award":["779257"],"award-info":[{"award-number":["779257"]}]},{"DOI":"10.13039\/501100001659","name":"German Research Foundation","doi-asserted-by":"publisher","award":["FU 339\/7-2"],"award-info":[{"award-number":["FU 339\/7-2"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"German Research Foundation","doi-asserted-by":"publisher","award":["FU 339\/13-1"],"award-info":[{"award-number":["FU 339\/13-1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Core Facility AIMBIOS, University of Bonn"},{"name":"Genome-Phenome Analysis Platform","award":["FP7 305444"],"award-info":[{"award-number":["FP7 305444"]}]},{"name":"Genome-Phenome Analysis Platform","award":["H2020 779257"],"award-info":[{"award-number":["H2020 779257"]}]},{"name":"Genome-Phenome Analysis Platform","award":["H2020 825575"],"award-info":[{"award-number":["H2020 825575"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,10,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Filamin-A-interacting protein 1 (FILIP1) is a structural protein that is involved in neuronal and muscle function and integrity and interacts with FLNa and FLNc. Pathogenic variants in filamin-encoding genes have been linked to neurological disorders (FLNA) and muscle diseases characterized by myofibrillar perturbations (FLNC), but human diseases associated with FILIP1 variants have not yet been described. Here, we report on five patients from four unrelated consanguineous families with homozygous FILIP1 variants (two nonsense and two missense).<\/jats:p>\n               <jats:p>Functional studies indicated altered stability of the FILIP1 protein carrying the p.[Pro1133Leu] variant. Patients exhibit a broad spectrum of neurological symptoms including brain malformations, neurodevelopmental delay, muscle weakness and pathology and dysmorphic features. Electron and immunofluorescence microscopy on the muscle biopsy derived from the patient harbouring the homozygous p.[Pro1133Leu] missense variant revealed core-like zones of myofibrillar disintegration, autophagic vacuoles and accumulation of FLNc. Proteomic studies on the fibroblasts derived from the same patient showed dysregulation of a variety of proteins including FLNc and alpha-B-crystallin, a finding (confirmed by immunofluorescence) which is in line with the manifestation of symptoms associated with the syndromic phenotype of FILIP1opathy.<\/jats:p>\n               <jats:p>The combined findings of this study show that the loss of functional FILIP1 leads to a recessive disorder characterized by neurological and muscular manifestations as well as dysmorphic features accompanied by perturbed proteostasis and myopathology.<\/jats:p>","DOI":"10.1093\/brain\/awad152","type":"journal-article","created":{"date-parts":[[2023,5,11]],"date-time":"2023-05-11T07:34:04Z","timestamp":1683790444000},"page":"4200-4216","source":"Crossref","is-referenced-by-count":9,"title":["Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects"],"prefix":"10.1093","volume":"146","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2833-0928","authenticated-orcid":false,"given":"Andreas","family":"Roos","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology, Center for Neuromuscular Disorders, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen , 45147 Essen , Germany"},{"name":"Brain and Mind Research Institute, Children\u2019s Hospital of Eastern Ontario Research Institute , Ottawa, ON, K1H 8L1 , Canada"},{"name":"Department of Neurology, University Hospital Bergmannsheil, Heimer Institute for Muscle Research , 44789 Bochum , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter F M","family":"van der Ven","sequence":"additional","affiliation":[{"name":"Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn , 53121 Bonn , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hadil","family":"Alrohaif","sequence":"additional","affiliation":[{"name":"John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust , Newcastle upon Tyne, NE1 3BZ , UK"},{"name":"Kuwait Medical Genetics Center, Sabah Hospital , Kuwait City , Kuwait"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heike","family":"K\u00f6lbel","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Center for Neuromuscular Disorders, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen , 45147 Essen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorena","family":"Heil","sequence":"additional","affiliation":[{"name":"Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn , 53121 Bonn , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adela","family":"Della Marina","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Center for Neuromuscular Disorders, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen , 45147 Essen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3280-6773","authenticated-orcid":false,"given":"Joachim","family":"Weis","sequence":"additional","affiliation":[{"name":"Institute of Neuropathology, RWTH Aachen University Hospital , 52074 Aachen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marvin","family":"A\u00dfent","sequence":"additional","affiliation":[{"name":"Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn , 53121 Bonn , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefanie","family":"Beck-W\u00f6dl","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics, University of T\u00fcbingen , 72076 T\u00fcbingen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Barresi","sequence":"additional","affiliation":[{"name":"San Camillo IRCCS , 30126 Venezia - Lido , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"T\u00f6pf","sequence":"additional","affiliation":[{"name":"John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust , Newcastle upon Tyne, NE1 3BZ , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaela","family":"O\u2019Connor","sequence":"additional","affiliation":[{"name":"Brain and Mind Research Institute, Children\u2019s Hospital of Eastern Ontario Research Institute , Ottawa, ON, K1H 8L1 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert","family":"Sickmann","sequence":"additional","affiliation":[{"name":"Department of Bioanalytics, Leibniz-Institut f\u00fcr Analytische Wissenschaften - ISAS - e.V. , 44227 Dortmund , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolai","family":"Kohlschmidt","sequence":"additional","affiliation":[{"name":"Institute of Clinical Genetics and Tumour Genetics , 53111 Bonn , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdeldin","family":"El Gizouli","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen , 45147 Essen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy","family":"Meyer","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Center for Neuromuscular Disorders, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen , 45147 Essen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nassam","family":"Daya","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Hospital Bergmannsheil, Heimer Institute for Muscle Research , 44789 Bochum , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Grande","sequence":"additional","affiliation":[{"name":"Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn , 53121 Bonn , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Bois","sequence":"additional","affiliation":[{"name":"Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn , 53121 Bonn , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank J","family":"Kaiser","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen , 45147 Essen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Vorgerd","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Hospital Bergmannsheil, Heimer Institute for Muscle Research , 44789 Bochum , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Schr\u00f6der","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen , 45147 Essen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Schara-Schmidt","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Center for Neuromuscular Disorders, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen , 45147 Essen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Gangfuss","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Center for Neuromuscular Disorders, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen , 45147 Essen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresinha","family":"Evangelista","sequence":"additional","affiliation":[{"name":"John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust , Newcastle upon Tyne, NE1 3BZ , UK"},{"name":"Nord\/Est\/Ile-de-France Neuromuscular Reference Center, Institute of Myology, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, APHP, Sorbonne University , 75013 Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"R\u00f6bisch","sequence":"additional","affiliation":[{"name":"Department of Bioanalytics, Leibniz-Institut f\u00fcr Analytische Wissenschaften - ISAS - e.V. , 44227 Dortmund , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Hentschel","sequence":"additional","affiliation":[{"name":"Department of Bioanalytics, Leibniz-Institut f\u00fcr Analytische Wissenschaften - ISAS - e.V. , 44227 Dortmund , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anika","family":"Gr\u00fcneboom","sequence":"additional","affiliation":[{"name":"Department of Bioanalytics, Leibniz-Institut f\u00fcr Analytische Wissenschaften - ISAS - e.V. , 44227 Dortmund , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dieter O","family":"Fuerst","sequence":"additional","affiliation":[{"name":"Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn , 53121 Bonn , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alma","family":"Kuechler","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen , 45147 Essen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Tzschach","sequence":"additional","affiliation":[{"name":"Medical Center, Faculty of Medicine, Institute of Human Genetics, University of Freiburg , 79106 Freiburg , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7212-9554","authenticated-orcid":false,"given":"Christel","family":"Depienne","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen , 45147 Essen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanns","family":"Lochm\u00fcller","sequence":"additional","affiliation":[{"name":"Brain and Mind Research Institute, Children\u2019s Hospital of Eastern Ontario Research Institute , Ottawa, ON, K1H 8L1 , Canada"},{"name":"Division of Neurology, Department of Medicine, The Ottawa Hospital , Ottawa, ON, K1H 8L1 , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,5,10]]},"reference":[{"key":"2023100302134727000_awad152-B1","doi-asserted-by":"crossref","first-page":"1008","DOI":"10.1016\/j.nmd.2020.11.009","article-title":"The 2021 version of the gene table of neuromuscular disorders (nuclear genome)","volume":"30","author":"Benarroch","year":"2020","journal-title":"Neuromuscul Disord."},{"key":"2023100302134727000_awad152-B2","doi-asserted-by":"crossref","first-page":"9648","DOI":"10.1523\/JNEUROSCI.2363-04.2004","article-title":"Filamin A and FILIP (filamin A-interacting protein) regulate cell polarity and motility in neocortical subventricular and intermediate zones during radial migration","volume":"24","author":"Nagano","year":"2004","journal-title":"J Neurosci."},{"key":"2023100302134727000_awad152-B3","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1097\/ANC.0000000000000878","article-title":"Cardiovascular, brain, and lung involvement in a newborn with a novel FLNA mutation: a case report and literature review","volume":"22","author":"Meliota","year":"2022","journal-title":"Adv Neonatal Care."},{"key":"2023100302134727000_awad152-B4","doi-asserted-by":"crossref","first-page":"4807","DOI":"10.1091\/mbc.e12-07-0555","article-title":"Rhod regulates cytoskeletal dynamics via the actin nucleation-promoting factor WASp homologue associated with actin Golgi membranes and microtubules","volume":"23","author":"Gad","year":"2012","journal-title":"Mol Biol Cell."},{"key":"2023100302134727000_awad152-B5","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1093\/jmcb\/mjy025","article-title":"A novel long non-coding RNA myolinc regulates myogenesis through TDP-43 and filip1","volume":"10","author":"Militello","year":"2018","journal-title":"J Mol Cell Biol."},{"key":"2023100302134727000_awad152-B6","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1038\/s42003-020-0982-5","article-title":"Phosphoproteomics identifies dual-site phosphorylation in an extended basophilic motif regulating FILIP1-mediated degradation of filamin-C","volume":"3","author":"Reimann","year":"2020","journal-title":"Communications biology"},{"key":"2023100302134727000_awad152-B7","doi-asserted-by":"crossref","first-page":"1600","DOI":"10.1002\/humu.24062","article-title":"First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC","volume":"41","author":"K\u00f6lbel","year":"2020","journal-title":"Hum Mutat."},{"key":"2023100302134727000_awad152-B8","doi-asserted-by":"crossref","first-page":"1091","DOI":"10.1002\/humu.24004","article-title":"A mutation update for the FLNC gene in myopathies and cardiomyopathies","volume":"41","author":"Verdonschot","year":"2020","journal-title":"Hum Mutat."},{"key":"2023100302134727000_awad152-B9","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1186\/s13059-020-01993-6","article-title":"Varlociraptor: enhancing sensitivity and controlling false discovery rate in somatic indel discovery","volume":"21","author":"K\u00f6ster","year":"2020","journal-title":"Genome Biol."},{"key":"2023100302134727000_awad152-B10","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1136\/jmedgenet-2021-108064","article-title":"Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex","volume":"60","author":"Falb","year":"2023","journal-title":"J Med Genet"},{"key":"2023100302134727000_awad152-B11","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/ng.2892","article-title":"A general framework for estimating the relative pathogenicity of human genetic variants","volume":"46","author":"Kircher","year":"2014","journal-title":"Nat Genet."},{"key":"2023100302134727000_awad152-B12","doi-asserted-by":"crossref","first-page":"100331.","DOI":"10.1016\/j.gim.2022.10.013","article-title":"Importance of adopting standardized MANE transcripts in clinical reporting","volume":"25","author":"Wright","year":"2023","journal-title":"Genet Med"},{"key":"2023100302134727000_awad152-B13","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1186\/1750-1172-9-17","article-title":"Glycogenosome accumulation in the arrector pili muscle in Pompe disease","volume":"9","author":"Katona","year":"2014","journal-title":"Orphanet J Rare Dis."},{"key":"2023100302134727000_awad152-B14","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1002\/(SICI)1097-0169(200002)45:2<149::AID-CM6>3.0.CO;2-G","article-title":"Characterization of muscle filamin isoforms suggests a possible role of gamma-filamin\/ABP-L in sarcomeric Z-disc formation","volume":"45","author":"van der Ven","year":"2000","journal-title":"Cell Motil Cytoskeleton."},{"key":"2023100302134727000_awad152-B15","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/j.yexcr.2016.09.008","article-title":"Sarcomeric lesions and remodeling proximal to intercalated disks in overload-induced cardiac hypertrophy","volume":"348","author":"Kebir","year":"2016","journal-title":"Exp Cell Res."},{"key":"2023100302134727000_awad152-B16","doi-asserted-by":"crossref","first-page":"2154","DOI":"10.1016\/j.yexcr.2006.03.015","article-title":"Unusual splicing events result in distinct Xin isoforms that associate differentially with filamin c and mena\/VASP","volume":"312","author":"van der Ven","year":"2006","journal-title":"Exp Cell Res"},{"key":"2023100302134727000_awad152-B17","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1093\/emboj\/16.2.211","article-title":"Molecular structure of the sarcomeric M band: mapping of titin and myosin binding domains in myomesin and the identification of a potential regulatory phosphorylation site in myomesin","volume":"16","author":"Obermann","year":"1997","journal-title":"EMBO J."},{"key":"2023100302134727000_awad152-B18","doi-asserted-by":"crossref","first-page":"2443.","DOI":"10.3390\/biomedicines10102443","article-title":"FYCO1 increase and effect of arimoclomol-treatment in human VCP-pathology","volume":"10","author":"Guettsches","year":"2022","journal-title":"Biomedicines"},{"key":"2023100302134727000_awad152-B19","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1186\/s13023-020-01669-1","article-title":"Protein signature of human skin fibroblasts allows the study of the molecular etiology of rare neurological diseases","volume":"16","author":"Hentschel","year":"2021","journal-title":"Orphanet J Rare Dis."},{"key":"2023100302134727000_awad152-B20","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1002\/jemt.20829","article-title":"3D Reconstruction of histological sections: application to mammary gland tissue","volume":"73","author":"Arganda-Carreras","year":"2010","journal-title":"Microsc Res Tech"},{"key":"2023100302134727000_awad152-B21","doi-asserted-by":"crossref","DOI":"10.1016\/j.isci.2020.101948","article-title":"Autosomal recessive variants in TUBGCP2 alter the gamma-tubulin ring complex leading to neurodevelopmental disease","volume":"24","author":"Gungor","year":"2021","journal-title":"iScience"},{"key":"2023100302134727000_awad152-B22","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1038\/ncb808","article-title":"Filamin A-interacting protein (FILIP) regulates cortical cell migration out of the ventricular zone","volume":"4","author":"Nagano","year":"2002","journal-title":"Nat Cell Biol"},{"key":"2023100302134727000_awad152-B23","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1038\/s41586-021-03819-2","article-title":"Highly accurate protein structure prediction with AlphaFold","volume":"596","author":"Jumper","year":"2021","journal-title":"Nature"},{"key":"2023100302134727000_awad152-B24","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pcbi.1008543","article-title":"PremPS: predicting the impact of missense mutations on protein stability","volume":"16","author":"Chen","year":"2020","journal-title":"PLoS Comput Biol"},{"key":"2023100302134727000_awad152-B25","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1186\/s40478-016-0280-0","article-title":"New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses","volume":"4","author":"Maerkens","year":"2016","journal-title":"Acta Neuropathol Commun."},{"key":"2023100302134727000_awad152-B26","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1074\/mcp.M112.023176","article-title":"A combined laser microdissection and mass spectrometry approach reveals new disease relevant proteins accumulating in aggregates of filaminopathy patients","volume":"12","author":"Kley","year":"2013","journal-title":"Mol Cell Proteomics."},{"key":"2023100302134727000_awad152-B27","doi-asserted-by":"crossref","first-page":"6353","DOI":"10.1038\/srep06353","article-title":"Filamin A-interacting protein (FILIP) is a region-specific modulator of myosin 2b and controls spine morphology and NMDA receptor accumulation","volume":"4","author":"Yagi","year":"2014","journal-title":"Sci Rep"},{"key":"2023100302134727000_awad152-B28","doi-asserted-by":"crossref","first-page":"1800","DOI":"10.1016\/j.cub.2012.07.047","article-title":"A proteome-wide screen for mammalian SxIP motif-containing microtubule plus-end tracking proteins","volume":"22","author":"Jiang","year":"2012","journal-title":"Curr Biol"},{"key":"2023100302134727000_awad152-B29","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0172257","article-title":"Subcellular distribution of non-muscle myosin IIb is controlled by FILIP through Hsc70","volume":"12","author":"Yagi","year":"2017","journal-title":"PloS one"},{"key":"2023100302134727000_awad152-B30","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1007\/s00401-012-1054-9","article-title":"Filamin C-related myopathies: pathology and mechanisms","volume":"125","author":"Furst","year":"2013","journal-title":"Acta Neuropathol"},{"key":"2023100302134727000_awad152-B31","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1111\/j.1447-073x.2005.00101.x","article-title":"Involvement of filamin A and filamin A-interacting protein (FILIP) in controlling the start and cell shape of radially migrating cortical neurons","volume":"80","author":"Sato","year":"2005","journal-title":"Anat Sci Int"},{"key":"2023100302134727000_awad152-B32","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1038\/nrm2406","article-title":"Filopodia: molecular architecture and cellular functions","volume":"9","author":"Mattila","year":"2008","journal-title":"Nat Rev Mol Cell Biol"},{"key":"2023100302134727000_awad152-B33","doi-asserted-by":"crossref","first-page":"2274.","DOI":"10.3390\/ijms23042274","article-title":"Cytoskeleton protein EB3 contributes to dendritic spines enlargement and enhances their resilience to toxic effects of beta-amyloid","volume":"23","author":"Pchitskaya","year":"2022","journal-title":"Int J Mol Sci"},{"key":"2023100302134727000_awad152-B34","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1186\/s40478-019-0853-9","article-title":"A metastable subproteome underlies inclusion formation in muscle proteinopathies","volume":"7","author":"Ciryam","year":"2019","journal-title":"Acta Neuropathol Commun"},{"key":"2023100302134727000_awad152-B35","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1016\/j.ejmg.2012.03.003","article-title":"De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature","volume":"55","author":"Becker","year":"2012","journal-title":"Eur J Med Genet."},{"key":"2023100302134727000_awad152-B36","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1016\/j.cell.2013.06.049","article-title":"Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network","volume":"154","author":"Gulsuner","year":"2013","journal-title":"Cell"},{"key":"2023100302134727000_awad152-B37","doi-asserted-by":"crossref","first-page":"e590","DOI":"10.1212\/NXG.0000000000000590","article-title":"FLNC-Associated Myofibrillar Myopathy: new clinical, functional, and proteomic data","volume":"7","author":"Kley","year":"2021","journal-title":"Neurol Genet"},{"issue":"2-3","key":"2023100302134727000_awad152-B38","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1016\/S0167-4889(02)00395-6","article-title":"Cytochalasin D disruption of actin filaments in 3T3 cells produces an anti-apoptotic response by activating gelatinase A extracellularly and initiating intracellular survival signals","volume":"1593","author":"Ailenberg","year":"2003","journal-title":"Biochim Biophys Acta"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/brain\/advance-article-pdf\/doi\/10.1093\/brain\/awad152\/51050836\/awad152.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/brain\/article-pdf\/146\/10\/4200\/51824138\/awad152.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/brain\/article-pdf\/146\/10\/4200\/51824138\/awad152.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T02:22:20Z","timestamp":1696299740000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article\/146\/10\/4200\/7159317"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,10]]},"references-count":38,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2023,5,10]]},"published-print":{"date-parts":[[2023,10,3]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awad152","relation":{},"ISSN":["0006-8950","1460-2156"],"issn-type":[{"value":"0006-8950","type":"print"},{"value":"1460-2156","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2023,10]]},"published":{"date-parts":[[2023,5,10]]}}}