{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T04:11:22Z","timestamp":1788322282553,"version":"build-2803163510"},"reference-count":60,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T00:00:00Z","timestamp":1759276800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T00:00:00Z","timestamp":1759276800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,4,2]],"date-time":"2026-04-02T00:00:00Z","timestamp":1775088000000},"content-version":"vor","delay-in-days":183,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100014865","name":"Fondation Maladies Rares","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014865","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100019125","name":"Sorbonne Universit\u00e9","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100019125","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001677","name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001677","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100023851","name":"Institut de Myologie","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100023851","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"French National Research Agency","doi-asserted-by":"publisher","award":["ANR-23-CE17-0002"],"award-info":[{"award-number":["ANR-23-CE17-0002"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002915","name":"Foundation for Medical Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002915","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2025,10]]},"DOI":"10.1016\/j.ajhg.2025.07.010","type":"journal-article","created":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T14:53:11Z","timestamp":1758207191000},"page":"2440-2457","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"title":["Allele-specific RNAi therapy corrects an extracellular matrix defect in Schuurs-Hoeijmakers syndrome"],"prefix":"10.1016","volume":"112","author":[{"given":"Lylia","family":"Mekzine","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia","family":"Pinz\u00f3n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamel","family":"Mamchaoui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Kondili","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Cadot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Bitoun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delphine","family":"Trochet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2025.07.010_bib1","article-title":"A Novel PACS1 Variant Associated With Schuurs-Hoeijmakers Syndrome Phenotype in an Indigenous Descendant in Brazil: A Case Report","volume":"14","author":"Lucena","year":"2022","journal-title":"Cureus"},{"key":"10.1016\/j.ajhg.2025.07.010_bib2","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1111\/cge.13105","article-title":"A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome","volume":"93","author":"Miyake","year":"2018","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ajhg.2025.07.010_bib3","doi-asserted-by":"crossref","first-page":"2181","DOI":"10.1002\/ajmg.a.63232","article-title":"Do PACS1 variants impeding adaptor protein binding predispose to syndromic intellectual disability?","volume":"191","author":"Moller-Hansen","year":"2023","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2025.07.010_bib4","doi-asserted-by":"crossref","first-page":"1122","DOI":"10.1016\/j.ajhg.2012.10.013","article-title":"Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome","volume":"91","author":"Schuurs-Hoeijmakers","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2025.07.010_bib5","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1002\/ajmg.a.37476","article-title":"Clinical delineation of the PACS1 -related syndrome\u2014Report on 19 patients","volume":"170","author":"Schuurs-Hoeijmakers","year":"2016","journal-title":"Amer. J. Med. Genet. Pt A"},{"key":"10.1016\/j.ajhg.2025.07.010_bib6","doi-asserted-by":"crossref","first-page":"9649","DOI":"10.3390\/ijms23179649","article-title":"Molecular Basis of the Schuurs\u2013Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches","volume":"23","author":"Arnedo","year":"2022","journal-title":"IJMS"},{"key":"10.1016\/j.ajhg.2025.07.010_bib7","doi-asserted-by":"crossref","first-page":"738","DOI":"10.3390\/genes12050738","article-title":"Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review","volume":"12","author":"Tenorio-Casta\u00f1o","year":"2021","journal-title":"Genes"},{"key":"10.1016\/j.ajhg.2025.07.010_bib8","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1042\/BJ20081016","article-title":"At the crossroads of homoeostasis and disease: roles of the PACS proteins in membrane traffic and apoptosis","volume":"421","author":"Youker","year":"2009","journal-title":"Biochem. J."},{"key":"10.1016\/j.ajhg.2025.07.010_bib9","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/S0092-8674(00)81420-8","article-title":"PACS-1 Defines a Novel Gene Family of Cytosolic Sorting Proteins Required for trans-Golgi Network Localization","volume":"94","author":"Wan","year":"1998","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2025.07.010_bib10","doi-asserted-by":"crossref","DOI":"10.15252\/embj.2020104888","article-title":"Calcium flux control by Pacs1-Wdr37 promotes lymphocyte quiescence and lymphoproliferative diseases","volume":"40","author":"Nair-Gill","year":"2021","journal-title":"EMBO J."},{"key":"10.1016\/j.ajhg.2025.07.010_bib11","doi-asserted-by":"crossref","first-page":"17169","DOI":"10.1074\/jbc.RA120.014048","article-title":"Dysregulation of hsa-miR-34a and hsa-miR-449a leads to overexpression of PACS-1 and loss of DNA damage response (DDR) in cervical cancer","volume":"295","author":"Veena","year":"2020","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ajhg.2025.07.010_bib12","doi-asserted-by":"crossref","first-page":"2583","DOI":"10.1038\/s41388-020-1167-x","article-title":"The multifunctional protein PACS-1 is required for HDAC2- and HDAC3-dependent chromatin maturation and genomic stability","volume":"39","author":"Mani","year":"2020","journal-title":"Oncogene"},{"key":"10.1016\/j.ajhg.2025.07.010_bib13","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1002\/1873-3468.14243","article-title":"PACS-1 contains distinct motifs for nuclear-cytoplasmic transport and interacts with the RNA-binding protein PTBP1 in the nucleus and cytosol","volume":"596","author":"Trothen","year":"2022","journal-title":"FEBS Lett."},{"key":"10.1016\/j.ajhg.2025.07.010_bib14","doi-asserted-by":"crossref","first-page":"6547","DOI":"10.1038\/s41467-023-42176-8","article-title":"Neural deficits in a mouse model of PACS1 syndrome are corrected with PACS1- or HDAC6-targeting therapy","volume":"14","author":"Villar-Pazos","year":"2023","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2025.07.010_bib15","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1038\/s41467-024-44989-7","article-title":"iPSC-derived models of PACS1 syndrome reveal transcriptional and functional deficits in neuron activity","volume":"15","author":"Rylaarsdam","year":"2024","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2025.07.010_bib16","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1038\/s41586-019-1338-5","article-title":"Gene expression across mammalian organ development","volume":"571","author":"Cardoso-Moreira","year":"2019","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2025.07.010_bib17","article-title":"A Novel Multi-Exon Deletion of PACS1 in a Three-Generation Pedigree: Supplements to PACS1 Neurodevelopmental Disorder Spectrum","volume":"12","author":"Liu","year":"2021","journal-title":"Front. Genet."},{"key":"10.1016\/j.ajhg.2025.07.010_bib18","doi-asserted-by":"crossref","first-page":"503","DOI":"10.2174\/1566523215666150812115730","article-title":"Therapy for dominant inherited diseases by allele-specific RNA interference: successes and pitfalls","volume":"15","author":"Trochet","year":"2015","journal-title":"Curr. Gene Ther."},{"key":"10.1016\/j.ajhg.2025.07.010_bib19","doi-asserted-by":"crossref","first-page":"786","DOI":"10.1038\/gt.2011.152","article-title":"Restoration of normal BMP signaling levels and osteogenic differentiation in FOP mesenchymal progenitor cells by mutant allele-specific targeting","volume":"19","author":"Kaplan","year":"2012","journal-title":"Gene Ther."},{"key":"10.1016\/j.ajhg.2025.07.010_bib20","doi-asserted-by":"crossref","first-page":"3846","DOI":"10.1096\/fj.08-110890","article-title":"Allele-specific silencing of the dominant disease allele in sialuria by RNA interference","volume":"22","author":"Klootwijk","year":"2008","journal-title":"FASEB J."},{"key":"10.1016\/j.ajhg.2025.07.010_bib21","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1096\/fj.11-182162","article-title":"Allele-specific siRNA knockdown as a personalized treatment strategy for vascular Ehlers-Danlos syndrome in human fibroblasts","volume":"26","author":"M\u00fcller","year":"2012","journal-title":"FASEB j."},{"key":"10.1016\/j.ajhg.2025.07.010_bib22","article-title":"Specific Silencing of L392V PSEN1 Mutant Allele by RNA Interference","volume":"2011","author":"Sierant","year":"2011","journal-title":"Int. J. Alzheimers Dis."},{"key":"10.1016\/j.ajhg.2025.07.010_bib23","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1016\/j.omtn.2022.08.016","article-title":"Development of versatile allele-specific siRNAs able to silence all the dominant dynamin 2 mutations","volume":"29","author":"Dudhal","year":"2022","journal-title":"Mol. Ther. Nucleic Acids"},{"key":"10.1016\/j.ajhg.2025.07.010_bib24","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1126\/science.1236921","article-title":"Allele-Specific Silencing of Mutant Myh6 Transcripts in Mice Suppresses Hypertrophic Cardiomyopathy","volume":"342","author":"Jiang","year":"2013","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2025.07.010_bib25","doi-asserted-by":"crossref","first-page":"239","DOI":"10.15252\/emmm.201707988","article-title":"Allele-specific silencing therapy for Dynamin 2-related dominant centronuclear myopathy","volume":"10","author":"Trochet","year":"2018","journal-title":"EMBO Mol. Med."},{"key":"10.1016\/j.ajhg.2025.07.010_bib26","doi-asserted-by":"crossref","first-page":"1179","DOI":"10.1016\/j.omtn.2022.02.009","article-title":"Benefits of therapy by dynamin-2-mutant-specific silencing are maintained with time in a mouse model of dominant centronuclear myopathy","volume":"27","author":"Trochet","year":"2022","journal-title":"Mol. Ther. Nucleic Acids"},{"key":"10.1016\/j.ajhg.2025.07.010_bib27","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1016\/j.nbd.2006.04.019","article-title":"Allele-specific RNAi selectively silences mutant SOD1 and achieves significant therapeutic benefit in vivo","volume":"23","author":"Xia","year":"2006","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.ajhg.2025.07.010_bib28","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0099341","article-title":"Allele-specific silencing of mutant huntingtin in rodent brain and human stem cells","volume":"9","author":"Drouet","year":"2014","journal-title":"PLoS One"},{"key":"10.1016\/j.ajhg.2025.07.010_bib29","doi-asserted-by":"crossref","first-page":"24560","DOI":"10.18632\/oncotarget.4183","article-title":"RNAi therapy targeting KRAS in combination with chemotherapy for locally advanced pancreatic cancer patients","volume":"6","author":"Golan","year":"2015","journal-title":"Oncotarget"},{"key":"10.1016\/j.ajhg.2025.07.010_bib30","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1038\/mt.2009.273","article-title":"First-in-human Mutation-targeted siRNA Phase Ib Trial of an Inherited Skin Disorder","volume":"18","author":"Leachman","year":"2010","journal-title":"Mol. Ther."},{"key":"10.1016\/j.ajhg.2025.07.010_bib31","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1016\/j.nmd.2007.01.019","article-title":"Impact on oxidative phosphorylation of immortalization with the telomerase gene","volume":"17","author":"Aur\u00e9","year":"2007","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.ajhg.2025.07.010_bib32","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-017-17204-5","article-title":"QuPath: Open source software for digital pathology image analysis","volume":"7","author":"Bankhead","year":"2017","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ajhg.2025.07.010_bib33","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1038\/nmeth.2019","article-title":"Fiji: an open-source platform for biological-image analysis","volume":"9","author":"Schindelin","year":"2012","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ajhg.2025.07.010_bib34","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1038\/s41586-019-1064-z","article-title":"Genetic compensation triggered by mutant mRNA degradation","volume":"568","author":"El-Brolosy","year":"2019","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2025.07.010_bib35","doi-asserted-by":"crossref","first-page":"1182","DOI":"10.1038\/sj.embor.7400018","article-title":"AP-1 recruitment to VAMP4 is modulated by phosphorylation-dependent binding of PACS-1","volume":"4","author":"Hinners","year":"2003","journal-title":"EMBO Rep."},{"key":"10.1016\/j.ajhg.2025.07.010_bib36","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1038\/sj.emboj.7600566","article-title":"Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation","volume":"24","author":"K\u00f6ttgen","year":"2005","journal-title":"EMBO J."},{"key":"10.1016\/j.ajhg.2025.07.010_bib37","doi-asserted-by":"crossref","first-page":"4415","DOI":"10.1038\/sj.emboj.7600885","article-title":"Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia","volume":"24","author":"Schermer","year":"2005","journal-title":"EMBO J."},{"key":"10.1016\/j.ajhg.2025.07.010_bib38","doi-asserted-by":"crossref","first-page":"4423","DOI":"10.1038\/sj.emboj.7601336","article-title":"A PACS-1, GGA3 and CK2 complex regulates CI-MPR trafficking","volume":"25","author":"Scott","year":"2006","journal-title":"EMBO J."},{"key":"10.1016\/j.ajhg.2025.07.010_bib39","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1038\/cdd.2016.119","article-title":"Epigenetic control of mitochondrial cell death through PACS1-mediated regulation of BAX\/BAK oligomerization","volume":"24","author":"Brasacchio","year":"2017","journal-title":"Cell Death Differ."},{"key":"10.1016\/j.ajhg.2025.07.010_bib40","doi-asserted-by":"crossref","first-page":"4308","DOI":"10.1128\/MCB.00628-13","article-title":"SORLA-dependent and -independent functions for PACS1 in control of amyloidogenic processes","volume":"33","author":"Burgert","year":"2013","journal-title":"Mol. Cell Biol."},{"key":"10.1016\/j.ajhg.2025.07.010_bib41","doi-asserted-by":"crossref","first-page":"35014","DOI":"10.1021\/acsomega.4c04998","article-title":"PACS-1 Interacts with TRPC3 and ESyt1 to Mediate Protein Trafficking while Promoting SOCE and Cooperatively Regulating Hormone Secretion","volume":"9","author":"Trothen","year":"2024","journal-title":"ACS Omega"},{"key":"10.1016\/j.ajhg.2025.07.010_bib42","doi-asserted-by":"crossref","first-page":"2191","DOI":"10.1093\/emboj\/20.9.2191","article-title":"PACS-1 binding to adaptors is required for acidic cluster motif-mediated protein traffic","volume":"20","author":"Crump","year":"2001","journal-title":"EMBO J."},{"key":"10.1016\/j.ajhg.2025.07.010_bib43","doi-asserted-by":"crossref","first-page":"11105","DOI":"10.1128\/JVI.77.20.11105-11113.2003","article-title":"Role of PACS-1 in trafficking of human cytomegalovirus glycoprotein B and virus production","volume":"77","author":"Crump","year":"2003","journal-title":"J. Virol."},{"key":"10.1016\/j.ajhg.2025.07.010_bib44","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1111\/j.1600-0854.2007.00581.x","article-title":"An acidic cluster of the cytoplasmic tail of the RD114 virus glycoprotein controls assembly of retroviral envelopes","volume":"8","author":"Bouard","year":"2007","journal-title":"Traffic"},{"key":"10.1016\/j.ajhg.2025.07.010_bib45","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1038\/35004038","article-title":"HIV-1 Nef protein binds to the cellular protein PACS-1 to downregulate class I major histocompatibility complexes","volume":"2","author":"Piguet","year":"2000","journal-title":"Nat. Cell Biol."},{"key":"10.1016\/j.ajhg.2025.07.010_bib46","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1002\/biof.1512","article-title":"Senescent dermal fibroblasts negatively influence fibroblast extracellular matrix-related gene expression partly via secretion of complement factor D","volume":"45","author":"Ezure","year":"2019","journal-title":"Biofactors"},{"key":"10.1016\/j.ajhg.2025.07.010_bib47","doi-asserted-by":"crossref","first-page":"1982","DOI":"10.1111\/exd.14929","article-title":"Single-cell analysis of human dermal fibroblasts isolated from a single male donor over 35 years","volume":"32","author":"Itai","year":"2023","journal-title":"Exp. Dermatol."},{"key":"10.1016\/j.ajhg.2025.07.010_bib48","doi-asserted-by":"crossref","first-page":"903","DOI":"10.1016\/j.clinbiochem.2016.05.023","article-title":"Type VIII collagen is elevated in diseases associated with angiogenesis and vascular remodeling","volume":"49","author":"Hansen","year":"2016","journal-title":"Clin. Biochem."},{"key":"10.1016\/j.ajhg.2025.07.010_bib49","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1016\/j.matbio.2024.08.006","article-title":"Collagen VIII in vascular diseases","volume":"133","author":"Li","year":"2024","journal-title":"Matrix Biol."},{"key":"10.1016\/j.ajhg.2025.07.010_bib50","doi-asserted-by":"crossref","first-page":"303","DOI":"10.3109\/03008209009152157","article-title":"Distribution of type VIII collagen in tissues: an immunohistochemical study","volume":"24","author":"Kittelberger","year":"1990","journal-title":"Connect. Tissue Res."},{"key":"10.1016\/j.ajhg.2025.07.010_bib51","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1083\/jcb.110.1.219","article-title":"Characterization of the collagen in the hexagonal lattice of Descemet\u2019s membrane: its relation to type VIII collagen","volume":"110","author":"Sawada","year":"1990","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.ajhg.2025.07.010_bib52","doi-asserted-by":"crossref","first-page":"1232","DOI":"10.1096\/fj.04-3019com","article-title":"Targeted disruption of Col8a1 and Col8a2 genes in mice leads to anterior segment abnormalities in the eye","volume":"19","author":"Hopfer","year":"2005","journal-title":"FASEB J."},{"key":"10.1016\/j.ajhg.2025.07.010_bib53","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1080\/13816810.2023.2216272","article-title":"A case report of retinal dystrophy in patients with PACS1 syndrome","volume":"45","author":"Brown","year":"2024","journal-title":"Ophthalmic Genet."},{"key":"10.1016\/j.ajhg.2025.07.010_bib54","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1159\/000526975","article-title":"First Report of Mexican Patients with PACS1-Related Neurodevelopmental Disorder and Review of the PACS1-PACS2-and WDR37-Related Ophthalmological Manifestations","volume":"14","author":"Corona-Rivera","year":"2023","journal-title":"Mol. Syndromol."},{"key":"10.1016\/j.ajhg.2025.07.010_bib55","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1002\/ajmg.a.61964","article-title":"Prenatal and postnatal diagnosis of Schuurs-Hoeijmakers syndrome: Case series and review of the literature","volume":"185","author":"Seto","year":"2021","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2025.07.010_bib56","first-page":"195","article-title":"Type VIII collagen in the normal and diseased human brain","volume":"42","author":"Paulus","year":"1992","journal-title":"Acta Histochem. Suppl."},{"key":"10.1016\/j.ajhg.2025.07.010_bib57","series-title":"GeneReviews\u00ae [Internet]","article-title":"PACS1 Neurodevelopmental Disorder","author":"Lusk","year":"2020"},{"key":"10.1016\/j.ajhg.2025.07.010_bib58","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/j.tig.2021.10.010","article-title":"In search of a cure: PACS1 Research Foundation as a model of rare disease therapy development","volume":"38","author":"Rylaarsdam","year":"2022","journal-title":"Trends Genet."},{"key":"10.1016\/j.ajhg.2025.07.010_bib59","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1016\/j.bbrc.2018.11.085","article-title":"PACS-1 and adaptor protein-1 mediate ACTH trafficking to the regulated secretory pathway","volume":"507","author":"Dirk","year":"2018","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.ajhg.2025.07.010_bib60","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/j.neurobiolaging.2017.08.024","article-title":"Par3 and aPKC regulate BACE1 endosome-to-TGN trafficking through PACS1","volume":"60","author":"Sun","year":"2017","journal-title":"Neurobiol. Aging"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929725002800?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929725002800?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,4,2]],"date-time":"2026-04-02T02:14:17Z","timestamp":1775096057000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929725002800"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10]]},"references-count":60,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2025,10]]}},"alternative-id":["S0002929725002800"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2025.07.010","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2025,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Allele-specific RNAi therapy corrects an extracellular matrix defect in Schuurs-Hoeijmakers syndrome","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2025.07.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 American Society of Human Genetics. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}