{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T10:43:25Z","timestamp":1782902605406,"version":"3.54.5"},"reference-count":78,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Leibniz-Institut f\u00fcr Neurobiologie (LIN)"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Genome Med"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      <jats:italic>NPTN<\/jats:italic>\n                      encodes human neuroplastin (hNp), a transmembrane immunoglobulin (Ig)-superfamily glycoprotein and a subunit of the plasma membrane calcium (Ca\n                      <jats:sup>2+<\/jats:sup>\n                      )-ATPases (PMCA). The critical importance of hNp and its associations with PMCA in the human brain remains unknown.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Here, we describe de novo\n                      <jats:italic>NPTN<\/jats:italic>\n                      variants in individuals with autism and mild-to-severe DD\/ID and evaluate their effects using animal models and in silico, molecular, and cellular approaches.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Four individuals present variants affecting the two hNp isoforms, hNp55 and hNp65. Other four variants affect only the hNp65 isoform. Two individuals independently carry the same loss-of-function nonsense variant, predicted to cause haploinsufficient production of all hNp isoforms. Haploinsufficient\n                      <jats:italic>Nptn<\/jats:italic>\n                      <jats:sup>+\/\u2013<\/jats:sup>\n                      mice displayed reduced levels of Np and PMCA and exhibited altered social behavior. Insufficient Np55\/65 production in neurons resulted in reduced PMCA expression and function. Two missense variants caused particular structural and thermodynamic abnormalities and lower expression of hNps in human embryonic kidney (HEK) cells. In primary neurons, these hNp variants failed to regulate cytosolic Ca\n                      <jats:sup>2<\/jats:sup>\n                      \u207a transients. In\n                      <jats:italic>Drosophila<\/jats:italic>\n                      , a missense mutation affecting the PMCA interaction failed to prevent the lethal phenotype caused by hNp ortholog elimination.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      We show that a novel neurodevelopmental disorder characterized by intellectual disability and autism originates from haploinsufficient\n                      <jats:italic>NPTN<\/jats:italic>\n                      gene dosage or insufficient functionality of mutant hNp related to PMCA hypofunction.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13073-026-01699-7","type":"journal-article","created":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T04:25:23Z","timestamp":1782879923000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunction"],"prefix":"10.1186","volume":"18","author":[{"given":"Yi","family":"Liang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rodrigo","family":"Ormazabal-Toledo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harini","family":"Srinivasan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayse","family":"Malci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Waldo","family":"Acevedo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrich","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie S.","family":"Cohen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nils","family":"Rahner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes","family":"Luppe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriella","family":"Vera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francois","family":"Lecoquierre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eden","family":"Kroin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brad","family":"Angle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Cui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria J. Guillen","family":"Sacoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bert B. A.","family":"de Vries","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rolph","family":"Pfundt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gillian","family":"Prinzing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberly","family":"Wiltrout","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yakira","family":"Begun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine M.","family":"Pereira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Afenjar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Nava","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Konrad","family":"Platzer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dirk","family":"Montag","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rodrigo","family":"Herrera-Molina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,7,1]]},"reference":[{"key":"1699_CR1","volume-title":"StatPearls","author":"I Khan","year":"2024","unstructured":"Khan I, Leventhal BL. Developmental delay. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2024."},{"issue":"5","key":"1699_CR2","doi-asserted-by":"publisher","first-page":"778","DOI":"10.1002\/aur.2696","volume":"15","author":"J Zeidan","year":"2022","unstructured":"Zeidan J, Fombonne E, Scorah J, Ibrahim A, Durkin MS, Saxena S, et al. Global prevalence of autism: A systematic review update. Autism Res. 2022;15(5):778\u201390. https:\/\/doi.org\/10.1002\/aur.2696.","journal-title":"Autism Res"},{"issue":"2","key":"1699_CR3","doi-asserted-by":"publisher","first-page":"231","DOI":"10.3390\/brainsci13020231","volume":"13","author":"S Jansen","year":"2023","unstructured":"Jansen S, Vissers LELM, de Vries BBA. The Genetics of Intellectual Disability. Brain Sci. 2023;13(2):231. https:\/\/doi.org\/10.3390\/brainsci13020231. (PMID: 36831774).","journal-title":"Brain Sci"},{"issue":"1","key":"1699_CR4","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1186\/s13073-017-0433-1","volume":"9","author":"KM Bowling","year":"2017","unstructured":"Bowling KM, Thompson ML, Amaral MD, Finnila CR, Hiatt SM, Engel KL, et al. Genomic diagnosis for children with intellectual disability and\/or developmental delay. Genome Med. 2017;9(1):43. https:\/\/doi.org\/10.1186\/s13073-017-0433-1.","journal-title":"Genome Med"},{"issue":"1","key":"1699_CR5","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1038\/s41398-020-0760-7","volume":"10","author":"T Husson","year":"2020","unstructured":"Husson T, Lecoquierre F, Cassinari K, Charbonnier C, Quenez O, Goldenberg A, et al. Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use. Transl Psychiatry. 2020;10(1):77. https:\/\/doi.org\/10.1038\/s41398-020-0760-7.","journal-title":"Transl Psychiatry"},{"issue":"1","key":"1699_CR6","doi-asserted-by":"publisher","first-page":"7273","DOI":"10.1038\/s41598-017-07839-9","volume":"7","author":"R Herrera-Molina","year":"2017","unstructured":"Herrera-Molina R, Mlinac-Jerkovic K, Ilic K, St\u00f6ber F, Vemula SK, Sandoval M, et al. Neuroplastin deletion in glutamatergic neurons impairs selective brain functions and calcium regulation: implication for cognitive deterioration. Sci Rep. 2017;7(1):7273. https:\/\/doi.org\/10.1038\/s41598-017-07839-9.","journal-title":"Sci Rep"},{"issue":"1","key":"1699_CR7","doi-asserted-by":"publisher","first-page":"394","DOI":"10.1038\/s41398-021-01509-1","volume":"11","author":"K Ilic","year":"2021","unstructured":"Ilic K, Mlinac-Jerkovic K, Sedmak G, Rosenzweig I, Kalanj-Bognar S. Neuroplastin in human cognition: review of literature and future perspectives. Transl Psychiatry. 2021;11(1):394. https:\/\/doi.org\/10.1038\/s41398-021-01509-1.","journal-title":"Transl Psychiatry"},{"issue":"2","key":"1699_CR8","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1136\/jmedgenet-2011-100499","volume":"49","author":"HC Mefford","year":"2012","unstructured":"Mefford HC, Rosenfeld JA, Shur N, Slavotinek AM, Cox VA, Hennekam RC, et al. Further clinical and molecular delineation of the 15q24 microdeletion syndrome. J Med Genet. 2012;49(2):110\u20138. https:\/\/doi.org\/10.1136\/jmedgenet-2011-100499. (Epub 2011 Dec 17. PMID: 22180641; PMCID: PMC3261729).","journal-title":"J Med Genet"},{"issue":"12","key":"1699_CR9","doi-asserted-by":"publisher","first-page":"2813","DOI":"10.1002\/ajmg.a.33097","volume":"149A","author":"J Andrieux","year":"2009","unstructured":"Andrieux J, Dubourg C, Rio M, Attie-Bitach T, Delaby E, Mathieu M, et al. Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH. Am J Med Genet A. 2009;149A(12):2813\u20139. https:\/\/doi.org\/10.1002\/ajmg.a.33097. (PMID:19921647;PMCID:PMC2874573).","journal-title":"Am J Med Genet A"},{"issue":"2","key":"1699_CR10","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1038\/mp.2013.197","volume":"20","author":"S Desrivi\u00e8res","year":"2015","unstructured":"Desrivi\u00e8res S, Lourdusamy A, Tao C, Toro R, Jia T, Loth E, et al. Single nucleotide polymorphism in the neuroplastin locus associates with cortical thickness and intellectual ability in adolescents. Mol Psychiatry. 2015;20(2):263\u201374. https:\/\/doi.org\/10.1038\/mp.2013.197. (Epub 2014 Feb 11).","journal-title":"Mol Psychiatry"},{"issue":"2","key":"1699_CR11","doi-asserted-by":"publisher","first-page":"124","DOI":"10.1016\/j.biopsych.2016.03.2107","volume":"81","author":"S Bhattacharya","year":"2017","unstructured":"Bhattacharya S, Herrera-Molina R, Sabanov V, Ahmed T, Iscru E, St\u00f6ber F, et al. Genetically induced retrograde amnesia of associative memories after neuroplastin ablation. Biol Psychiatry. 2017;81(2):124\u201335. https:\/\/doi.org\/10.1016\/j.biopsych.2016.03.2107.","journal-title":"Biol Psychiatry"},{"issue":"1","key":"1699_CR12","doi-asserted-by":"publisher","first-page":"8358","DOI":"10.1038\/s41598-017-08519-4","volume":"7","author":"M Korthals","year":"2017","unstructured":"Korthals M, Langnaese K, Smalla KH, K\u00e4hne T, Herrera-Molina R, Handschuh J, et al. A complex of neuroplastin and plasma membrane Ca2+ ATPase controls T cell activation. Sci Rep. 2017;7(1):8358. https:\/\/doi.org\/10.1038\/s41598-017-08519-4. (PMID:28827723;PMCID:PMC5566957).","journal-title":"Sci Rep"},{"issue":"4","key":"1699_CR13","doi-asserted-by":"publisher","first-page":"827","DOI":"10.1016\/j.neuron.2017.09.038","volume":"96","author":"N Schmidt","year":"2017","unstructured":"Schmidt N, Kollewe A, Constantin CE, Henrich S, Ritzau-Jost A, Bildl W, et al. Neuroplastin and Basigin Are Essential Auxiliary Subunits of Plasma Membrane Ca2+-ATPases and Key Regulators of Ca2+ Clearance. Neuron. 2017;96(4):827-838.e9. https:\/\/doi.org\/10.1016\/j.neuron.2017.09.038.","journal-title":"Neuron"},{"issue":"8083","key":"1699_CR14","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1038\/s41586-025-09402-3","volume":"646","author":"D Vinayagam","year":"2025","unstructured":"Vinayagam D, Sitsel O, Schulte U, Constantin CE, Oosterheert W, Prumbaum D, et al. Molecular mechanism of ultrafast transport by plasma membrane Ca2+-ATPases. Nature. 2025;646(8083):236\u201345. https:\/\/doi.org\/10.1038\/s41586-025-09402-3. (Epub 2025 Aug 20. PMID: 40836084; PMCID: PMC12488499).","journal-title":"Nature"},{"issue":"1","key":"1699_CR15","doi-asserted-by":"publisher","first-page":"7550","DOI":"10.1038\/s41467-025-62735-5","volume":"16","author":"CE Constantin","year":"2025","unstructured":"Constantin CE, Schmidt B, Schwarz Y, Harada H, Kollewe A, M\u00fcller CS, et al. Ca2+-pumping by PMCA-neuroplastin complexes operates in the kiloHertz-range. Nat Commun. 2025;16(1):7550. https:\/\/doi.org\/10.1038\/s41467-025-62735-5.","journal-title":"Nat Commun"},{"issue":"31","key":"1699_CR16","doi-asserted-by":"publisher","first-page":"8183","DOI":"10.1523\/JNEUROSCI.1962-06.2006","volume":"26","author":"V Scheuss","year":"2006","unstructured":"Scheuss V, Yasuda R, Sobczyk A, Svoboda K. Nonlinear [Ca2+] signaling in dendrites and spines caused by activity-dependent depression of Ca2+ extrusion. J Neurosci. 2006;26(31):8183\u201394.","journal-title":"J Neurosci"},{"key":"1699_CR17","doi-asserted-by":"publisher","first-page":"122554","DOI":"10.1016\/j.lfs.2024.122554","volume":"344","author":"VS Alves","year":"2024","unstructured":"Alves VS, Oliveira FA. Plasma membrane calcium ATPase powered by glycolysis is the main mechanism for calcium clearance in the hippocampal pyramidal neuron. Life Sci. 2024;344:122554. https:\/\/doi.org\/10.1016\/j.lfs.2024.122554.","journal-title":"Life Sci"},{"issue":"3","key":"1699_CR18","doi-asserted-by":"publisher","first-page":"873","DOI":"10.1523\/JNEUROSCI.2293-14.2015","volume":"35","author":"HY Chen","year":"2015","unstructured":"Chen HY, Chesler M. Autocrine boost of NMDAR current in hippocampal CA1 pyramidal neurons by a PMCA-dependent, perisynaptic, extracellular pH shift. J Neurosci. 2015;35(3):873\u20137.","journal-title":"J Neurosci"},{"issue":"8","key":"1699_CR19","doi-asserted-by":"publisher","first-page":"1611","DOI":"10.1523\/JNEUROSCI.1774-19.2020","volume":"40","author":"M Stawarski","year":"2020","unstructured":"Stawarski M, et al. Neuronal glutamatergic synaptic clefts alkalinize rather than acidify during neurotransmission. J Neurosci. 2020;40(8):1611\u201324.","journal-title":"J Neurosci"},{"issue":"10","key":"1699_CR20","doi-asserted-by":"publisher","first-page":"1173","DOI":"10.1134\/S0006297918100036","volume":"83","author":"DA Sibarov","year":"2018","unstructured":"Sibarov DA, Antonov SM. Calcium-dependent desensitization of NMDA receptors. Biochemistry (Mosc). 2018;83(10):1173\u201383.","journal-title":"Biochemistry (Mosc)"},{"issue":"5","key":"1699_CR21","doi-asserted-by":"publisher","first-page":"944","DOI":"10.1016\/j.ajhg.2022.03.009","volume":"109","author":"MJ Rahimi","year":"2022","unstructured":"Rahimi MJ, Urban N, Wegler M, Sticht H, Schaefer M, Popp B, et al. De novo variants in ATP2B1 lead to neurodevelopmental delay. Am J Hum Genet. 2022;109(5):944\u201352. https:\/\/doi.org\/10.1016\/j.ajhg.2022.03.009.","journal-title":"Am J Hum Genet"},{"key":"1699_CR22","unstructured":"Stehr AM, Lenberg J, Friedman J, Dobbelaere D, Imbard A, Levy J, Donoghue S, Derive N, Stoeva R, Gueguen P, Zech M. Consolidating the Role of Mutated ATP2B2 in Neurodevelopmental and Cerebellar Pathologies. Clin Genet. 2024"},{"issue":"1","key":"1699_CR23","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1038\/s41431-023-01484-9","volume":"32","author":"P Yap","year":"2024","unstructured":"Yap P, Riley LG, Kakadia PM, Bohlander SK, Curran B, Rahimi MJ, et al. Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism. Eur J Hum Genet. 2024;32(1):125\u20139. https:\/\/doi.org\/10.1038\/s41431-023-01484-9.","journal-title":"Eur J Hum Genet"},{"issue":"12","key":"1699_CR24","doi-asserted-by":"publisher","first-page":"100971","DOI":"10.1016\/j.gim.2023.100971","volume":"25","author":"E Poggio","year":"2023","unstructured":"Poggio E, Barazzuol L, Salmaso A, Milani C, Deligiannopoulou A, Cazorla \u00c1G, et al. ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures. Genet Med. 2023;25(12):100971. https:\/\/doi.org\/10.1016\/j.gim.2023.100971.","journal-title":"Genet Med"},{"key":"1699_CR25","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1016\/j.nbd.2018.04.009","volume":"115","author":"M Vicario","year":"2018","unstructured":"Vicario M, Zanni G, Vallese F, Santorelli F, Grinzato A, Cieri D, et al. A V1143F mutation in the neuronal-enriched isoform 2 of the PMCA pump is linked with ataxia. Neurobiol Dis. 2018;115:157\u201366. https:\/\/doi.org\/10.1016\/j.nbd.2018.04.009. (Epub 2018 Apr 12 PMID: 29655659).","journal-title":"Neurobiol Dis"},{"key":"1699_CR26","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1016\/j.neulet.2017.09.059","volume":"663","author":"M Bortolozzi","year":"2018","unstructured":"Bortolozzi M, Mammano F. PMCA2 pump mutations and hereditary deafness. Neurosci Lett. 2018;663:18\u201324. https:\/\/doi.org\/10.1016\/j.neulet.2017.09.059. (PMID: 29452611).","journal-title":"Neurosci Lett"},{"issue":"1","key":"1699_CR27","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1007\/s00439-018-1965-1","volume":"138","author":"JJ Smits","year":"2019","unstructured":"Smits JJ, Oostrik J, Beynon AJ, Kant SG, de Koning Gans PAM, Rotteveel LJC, et al. De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment. Hum Genet. 2019;138(1):61\u201372. https:\/\/doi.org\/10.1007\/s00439-018-1965-1. (Epub 2018 Dec 8. PMID: 30535804; PMCID: PMC6514080).","journal-title":"Hum Genet"},{"issue":"10","key":"1699_CR28","doi-asserted-by":"publisher","first-page":"855","DOI":"10.1038\/s41419-022-05300-y","volume":"13","author":"F Vallese","year":"2022","unstructured":"Vallese F, Maso L, Giamogante F, Poggio E, Barazzuol L, Salmaso A, et al. The ataxia-linked E1081Q mutation affects the sub-plasma membrane Ca2+-microdomains by tuning PMCA3 activity. Cell Death Dis. 2022;13(10):855. https:\/\/doi.org\/10.1038\/s41419-022-05300-y. (PMID:36207321;PMCID:PMC9546857).","journal-title":"Cell Death Dis"},{"issue":"663","key":"1699_CR29","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1016\/j.neulet.2017.11.005","volume":"10","author":"T Cal\u00ec","year":"2018","unstructured":"Cal\u00ec T, Brini M, Carafoli E. The PMCA pumps in genetically determined neuronal pathologies. Neurosci Lett. 2018;10(663):2\u201311. https:\/\/doi.org\/10.1016\/j.neulet.2017.11.005. (Epub 2017 Nov 17 PMID: 29155350).","journal-title":"Neurosci Lett"},{"issue":"12","key":"1699_CR30","doi-asserted-by":"publisher","first-page":"3303","DOI":"10.1016\/j.bbadis.2017.08.006","volume":"1863","author":"M Vicario","year":"2017","unstructured":"Vicario M, Cal\u00ec T, Cieri D, Vallese F, Bortolotto R, Lopreiato R, et al. A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect. Biochim Biophys Acta Mol Basis Dis. 2017;1863(12):3303\u201312. https:\/\/doi.org\/10.1016\/j.bbadis.2017.08.006. (Epub 2017 Aug 12 PMID: 28807751).","journal-title":"Biochim Biophys Acta Mol Basis Dis"},{"issue":"4","key":"1699_CR31","doi-asserted-by":"publisher","first-page":"e00321","DOI":"10.1002\/brb3.321","volume":"5","author":"PW Ho","year":"2015","unstructured":"Ho PW, Pang SY, Li M, Tse ZH, Kung MH, Sham PC, et al. PMCA4 (ATP2B4) mutation in familial spastic paraplegia causes delay in intracellular calcium extrusion. Brain Behav. 2015;5(4):e00321. https:\/\/doi.org\/10.1002\/brb3.321. (Epub 2015 Feb 16. PMID: 25798335; PMCID: PMC4356846).","journal-title":"Brain Behav"},{"issue":"8","key":"1699_CR32","doi-asserted-by":"publisher","first-page":"e104790","DOI":"10.1371\/journal.pone.0104790","volume":"9","author":"M Li","year":"2014","unstructured":"Li M, Ho PW, Pang SY, Tse ZH, Kung MH, Sham PC, et al. PMCA4 (ATP2B4) mutation in familial spastic paraplegia. PLoS ONE. 2014;9(8):e104790. https:\/\/doi.org\/10.1371\/journal.pone.0104790. (PMID:25119969;PMCID:PMC4132067).","journal-title":"PLoS ONE"},{"issue":"1","key":"1699_CR33","doi-asserted-by":"publisher","first-page":"3623","DOI":"10.1038\/s41467-018-06075-7","volume":"9","author":"D Gong","year":"2018","unstructured":"Gong D, Chi X, Ren K, Huang G, Zhou G, Yan N, et al. Structure of the human plasma membrane Ca2+-ATPase 1 in complex with its obligatory subunit neuroplastin. Nat Commun. 2018;9(1):3623. https:\/\/doi.org\/10.1038\/s41467-018-06075-7.","journal-title":"Nat Commun"},{"key":"1699_CR34","doi-asserted-by":"publisher","first-page":"102623","DOI":"10.1016\/j.ceca.2022.10","volume":"106","author":"A Malci","year":"2022","unstructured":"Malci A, Lin X, Sandoval R, Gundelfinger ED, Naumann M, Seidenbecher CI, et al. Ca2+ signaling in postsynaptic neurons: Neuroplastin-65 regulates the interplay between plasma membrane Ca2+ ATPases and ionotropic glutamate receptors. Cell Calcium. 2022;106:102623. https:\/\/doi.org\/10.1016\/j.ceca.2022.10.","journal-title":"Cell Calcium"},{"issue":"10","key":"1699_CR35","doi-asserted-by":"publisher","first-page":"928","DOI":"10.1002\/humu.22844","volume":"36","author":"N Sobreira","year":"2015","unstructured":"Sobreira N, Schiettecatte F, Valle D, Hamosh A. GeneMatcher: a matching tool for connecting investigators with an interest in the same gene. Hum Mutat. 2015;36(10):928\u201330. https:\/\/doi.org\/10.1002\/humu.22844.","journal-title":"Hum Mutat"},{"issue":"7993","key":"1699_CR36","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1038\/s41586-023-06045-0","volume":"625","author":"S Chen","year":"2024","unstructured":"Chen S, Francioli LC, Goodrich JK, Collins RL, Kanai M, Wang Q, et al. A genomic mutational constraint map using variation in 76,156 human genomes. Nature. 2024;625(7993):92\u2013100. https:\/\/doi.org\/10.1038\/s41586-023-06045-0.","journal-title":"Nature"},{"issue":"7905","key":"1699_CR37","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1038\/s41586-022-04558-8","volume":"604","author":"J Morales","year":"2022","unstructured":"Morales J, Pujar S, Loveland JE, Astashyn A, Bennett R, Berry A, et al. A joint NCBI and EMBL-EBI transcript set for clinical genomics and research. Nature. 2022;604(7905):310\u20135. https:\/\/doi.org\/10.1038\/s41586-022-04558-8.","journal-title":"Nature"},{"issue":"5","key":"1699_CR38","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405\u201324. https:\/\/doi.org\/10.1038\/gim.2015.30.","journal-title":"Genet Med"},{"issue":"1","key":"1699_CR39","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1186\/s13073-021-00835-9","volume":"13","author":"P Rentzsch","year":"2021","unstructured":"Rentzsch P, Schubach M, Shendure J, Kircher M. CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores. Genome Med. 2021;13(1):31. https:\/\/doi.org\/10.1186\/s13073-021-00835-9.","journal-title":"Genome Med"},{"issue":"4","key":"1699_CR40","doi-asserted-by":"publisher","first-page":"877","DOI":"10.1016\/j.ajhg.2016.08.016","volume":"99","author":"NM Ioannidis","year":"2016","unstructured":"Ioannidis NM, Rothstein JH, Pejaver V, Middha S, McDonnell SK, Baheti S, et al. REVEL: an ensemble method for predicting the pathogenicity of rare missense variants. Am J Hum Genet. 2016;99(4):877\u201385. https:\/\/doi.org\/10.1016\/j.ajhg.2016.08.016.","journal-title":"Am J Hum Genet"},{"issue":"1","key":"1699_CR41","doi-asserted-by":"publisher","first-page":"5918","DOI":"10.1038\/s41467-020-19669-x","volume":"11","author":"V Pejaver","year":"2020","unstructured":"Pejaver V, Urresti J, Lugo-Martinez J, Pagel KA, Lin GN, Nam HJ, et al. Inferring the molecular and phenotypic impact of amino acid variants with MutPred2. Nat Commun. 2020;11(1):5918. https:\/\/doi.org\/10.1038\/s41467-020-19669-x.","journal-title":"Nat Commun"},{"issue":"Suppl 3","key":"1699_CR42","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2164-14-S3-S3","volume":"14","author":"H Carter","year":"2013","unstructured":"Carter H, Douville C, Stenson PD, Cooper DN, Karchin R. Identifying Mendelian disease genes with the variant effect scoring tool. BMC Genomics. 2013;14(Suppl 3):S3. https:\/\/doi.org\/10.1186\/1471-2164-14-S3-S3. (Epub 2013 May 28).","journal-title":"BMC Genomics"},{"issue":"3","key":"1699_CR43","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1002\/humu.23158","volume":"38","author":"BJ Feng","year":"2017","unstructured":"Feng BJ. PERCH: a unified framework for disease gene prioritization. Hum Mutat. 2017;38(3):243\u201351. https:\/\/doi.org\/10.1002\/humu.23158.","journal-title":"Hum Mutat"},{"issue":"12","key":"1699_CR44","doi-asserted-by":"publisher","first-page":"2163","DOI":"10.1016\/j.ajhg.2022.10.013","volume":"109","author":"V Pejaver","year":"2022","unstructured":"Pejaver V, Byrne AB, Feng BJ, Pagel KA, Mooney SD, Karchin R, et al. Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3\/BP4 criteria. Am J Hum Genet. 2022;109(12):2163\u201377. https:\/\/doi.org\/10.1016\/j.ajhg.2022.10.013.","journal-title":"Am J Hum Genet"},{"key":"1699_CR45","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1016\/j.softx.2015.06.001","volume":"1\u20132","author":"MJ Abraham","year":"2015","unstructured":"Abraham MJ, Murtola T, Schulz R, P\u00e1ll S, Smith JC, Hess B, et al. GROMACS: High performance molecular simulations through multi-level parallelism from laptops to supercomputers. SoftwareX. 2015;1\u20132:19\u201325.","journal-title":"SoftwareX"},{"key":"1699_CR46","doi-asserted-by":"publisher","first-page":"1657","DOI":"10.1021\/ja00214a001","volume":"110","author":"WL Jorgensen","year":"1988","unstructured":"Jorgensen WL, Tirado-Rives J. The OPLS [optimized potentials for liquid simulations] potential functions for proteins, energy minimizations for crystals of cyclic peptides and crambin. J Am Chem Soc. 1988;110:1657\u201366.","journal-title":"J Am Chem Soc"},{"key":"1699_CR47","doi-asserted-by":"publisher","first-page":"6269","DOI":"10.1021\/j100308a038","volume":"91","author":"HJC Berendsen","year":"1987","unstructured":"Berendsen HJC, Grigera JR, Straatsma TP. The missing term ineffective pair potentials. J Phys Chem. 1987;91:6269\u201371.","journal-title":"J Phys Chem"},{"key":"1699_CR48","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1016\/0021-9991(77)90098-5","volume":"23","author":"J-P Ryckaert","year":"1977","unstructured":"Ryckaert J-P, Ciccotti G, Berendsen HJC. Numerical integration of the cartesian equations of motion of a system with constraints: molecular dynamics of n-alkanes. J Comput Phys. 1977;23:327\u201341.","journal-title":"J Comput Phys"},{"key":"1699_CR49","doi-asserted-by":"publisher","first-page":"8577","DOI":"10.1063\/1.470117","volume":"103","author":"U Essmann","year":"1995","unstructured":"Essmann U, Perera L, Berkowitz ML, Darden T, Lee H, Pedersen LG. A smooth particle mesh Ewald method. J Chem Phys. 1995;103:8577\u201393.","journal-title":"J Chem Phys"},{"key":"1699_CR50","doi-asserted-by":"publisher","first-page":"014101","DOI":"10.1063\/1.2408420","volume":"126","author":"G Bussi","year":"2007","unstructured":"Bussi G, Donadio D, Parrinello M. Canonical sampling through velocity rescaling. J Chem Phys. 2007;126:014101.","journal-title":"J Chem Phys"},{"key":"1699_CR51","doi-asserted-by":"publisher","first-page":"7182","DOI":"10.1063\/1.328693","volume":"52","author":"M Parrinello","year":"1981","unstructured":"Parrinello M, Rahman A. Polymorphic transitions in single crystals: a new molecular dynamics method. J Appl Phys. 1981;52:7182\u201390.","journal-title":"J Appl Phys"},{"issue":"7","key":"1699_CR52","doi-asserted-by":"publisher","first-page":"107474","DOI":"10.1016\/j.jbc.2024.107474","volume":"300","author":"Y Liang","year":"2024","unstructured":"Liang Y, Ormazabal-Toledo R, Yao S, Shi YS, Herrera-Molina R, Montag D, et al. Deafness causing neuroplastin missense variants fail to promote plasma membrane Ca2+-ATPase levels and Ca2+ transient regulation in brain neurons. J Biol Chem. 2024;300(7):107474. https:\/\/doi.org\/10.1016\/j.jbc.2024.107474.","journal-title":"J Biol Chem"},{"key":"1699_CR53","doi-asserted-by":"crossref","unstructured":"Andrew Leaver-Fay, Michael Tyka, Steven M. Lewis, Oliver F. Lange, James Thompson, Ron Jacak, Kristian W. Kaufman, P. Douglas Renfrew, Colin A. Smith, Will Sheffler, Ian W. Davis, Seth Cooper, Adrien Treuille, Daniel J. Mandell, Florian Richter, Yih-En Andrew Ban, Sarel J. Fleishman, Jacob E. Corn, David E. Kim, Sergey Lyskov, Monica Berrondo, Stuart Mentzer, Zoran Popovi\u0107, James J. Havranek, John Karanicolas, Rhiju Das, Jens Meiler, Tanja Kortemme, Jeffrey J. Gray, Brian Kuhlman, David Baker, Philip Bradley, Chapter nineteen - Rosetta3: An Object-Oriented Software Suite for the Simulation and Design of Macromolecules, Editor(s): Michael L. Johnson, Ludwig Brand, Methods in Enzymology,Academic Press,Volume487,2011,Pages 545\u2013574,ISSN 0076\u20136879,ISBN 9780123812704","DOI":"10.1016\/B978-0-12-381270-4.00019-6"},{"issue":"6","key":"1699_CR54","doi-asserted-by":"publisher","first-page":"3031","DOI":"10.1021\/acs.jctc.7b00125","volume":"13","author":"RF Alford","year":"2017","unstructured":"Alford RF, Leaver-Fay A, Jeliazkov JR, O\u2019Meara MJ, DiMaio FP, Park H, et al. The Rosetta all-atom energy function for macromolecular modeling and design. J Chem Theory Comput. 2017;13(6):3031\u201348. https:\/\/doi.org\/10.1021\/acs.jctc.7b00125. (PMID: 28430426; PMCID: PMC5717763).","journal-title":"J Chem Theory Comput"},{"key":"1699_CR55","doi-asserted-by":"publisher","first-page":"1364","DOI":"10.1126\/science.1089427","volume":"302","author":"B Kuhlman","year":"2003","unstructured":"Kuhlman B, et al. Design of a novel globular protein fold with atomic-level accuracy. Science. 2003;302:1364\u20138. https:\/\/doi.org\/10.1126\/science.1089427.","journal-title":"Science"},{"issue":"6","key":"1699_CR56","doi-asserted-by":"publisher","first-page":"984","DOI":"10.1111\/j.1471-4159.2011.07269.x","volume":"117","author":"S Owczarek","year":"2011","unstructured":"Owczarek S, Soroka V, Kiryushko D, Larsen MH, Yuan Q, Sandi C, et al. Neuroplastin-65 and a mimetic peptide derived from its homophilic binding site modulate neuritogenesis and neuronal plasticity. J Neurochem. 2011;117(6):984\u201394. https:\/\/doi.org\/10.1111\/j.1471-4159.2011.07269.x.","journal-title":"J Neurochem"},{"issue":"4","key":"1699_CR57","doi-asserted-by":"publisher","first-page":"720","DOI":"10.1016\/j.jmb.2015.09.014","volume":"428","author":"GCP Van Zundert","year":"2016","unstructured":"Van Zundert GCP, Rodrigues JPGLM, Trellet M, Schmitz C, Kastritis PL, Karaca E, et al. The HADDOCK2.2 web server: user-friendly integrative modeling of biomolecular complexes. J Mol Biol. 2016;428(4):720\u20135. https:\/\/doi.org\/10.1016\/j.jmb.2015.09.014.","journal-title":"J Mol Biol"},{"issue":"23","key":"1699_CR58","doi-asserted-by":"publisher","first-page":"3676","DOI":"10.1093\/bioinformatics\/btw514","volume":"32","author":"LC Xue","year":"2016","unstructured":"Xue LC, Rodrigues JP, Kastritis PL, Bonvin AM, Vangone A. PRODIGY: a web server for predicting the binding affinity of protein\u2013protein complexes. Bioinformatics. 2016;32(23):3676\u20138. https:\/\/doi.org\/10.1093\/bioinformatics\/btw514.","journal-title":"Bioinformatics"},{"issue":"8","key":"1699_CR59","doi-asserted-by":"publisher","first-page":"579513","DOI":"10.3389\/fcell.2020.57951","volume":"9","author":"SK Vemula","year":"2020","unstructured":"Vemula SK, Malci A, Junge L, Lehmann AC, Rama R, Hradsky J, et al. The Interaction of TRAF6 With Neuroplastin Promotes Spinogenesis During Early Neuronal Development. Front Cell Dev Biol. 2020;9(8):579513. https:\/\/doi.org\/10.3389\/fcell.2020.57951.","journal-title":"Front Cell Dev Biol"},{"issue":"7402","key":"1699_CR60","doi-asserted-by":"publisher","first-page":"256","DOI":"10.1038\/nature11015","volume":"486","author":"MJ Schmeisser","year":"2012","unstructured":"Schmeisser MJ, Ey E, Wegener S, Bockmann J, Stempel AV, Kuebler A, et al. Autistic-like behaviours and hyperactivity in mice lacking ProSAP1\/Shank2. Nature. 2012;486(7402):256\u201360.","journal-title":"Nature"},{"issue":"2","key":"1699_CR61","doi-asserted-by":"publisher","first-page":"821","DOI":"10.1074\/jbc.272.2.821","volume":"272","author":"K Langnaese","year":"1997","unstructured":"Langnaese K, Beesley PW, Gundelfinger ED. Synaptic membrane glycoproteins gp65 and gp55 are new members of the immunoglobulin superfamily. J Biol Chem. 1997;272(2):821\u20137. https:\/\/doi.org\/10.1074\/jbc.272.2.821. (PMID:8995369.2623).","journal-title":"J Biol Chem"},{"issue":"8","key":"1699_CR62","first-page":"1907","volume":"42","author":"MR Kreutz","year":"2001","unstructured":"Kreutz MR, Langnaese K, Dieterich DC, Seidenbecher CI, Zuschratter W, Beesley PW, et al. Distribution of transcript and protein isoforms of the synaptic glycoprotein neuroplastin in rat retina. Invest Ophthalmol Vis Sci. 2001;42(8):1907\u201314 (PMID: 11431460).","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"2","key":"1699_CR63","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1016\/j.ajhg.2018.06.009","volume":"103","author":"Z Coban-Akdemir","year":"2018","unstructured":"Coban-Akdemir Z, White JJ, Song X, Jhangiani SN, Fatih JM, Gambin T, et al. Identifying genes whose mutant transcripts cause dominant disease traits by potential gain-of-function alleles. Am J Hum Genet. 2018;103(2):171\u201387. https:\/\/doi.org\/10.1016\/j.ajhg.2018.06.009.","journal-title":"Am J Hum Genet"},{"key":"1699_CR64","doi-asserted-by":"publisher","unstructured":"Lucia Laugwitz, Fubo Cheng, Stephan C Collins, Alexander Hustinx, Nicolas Navarro, Simon Welsch, Helen Cox, Tzung-Chien Hsieh, Aswinkumar Vijayananth, Rebecca Buchert, Benjamin Bender, Stephanie Efthymiou, David Murphy, Faisal Zafar, Nuzhat Rana, Ute Grasshoff, Ruth J Falb, Mona Grimmel, Annette Seibt, Wenxu Zheng, Hamid Ghaedi, Marie Thirion, S\u00e9bastien Couette, Reza Azizimalamiri, Saeid Sadeghian, Hamid Galehdari, Mina Zamani, Jawaher Zeighami, Alireza Sedaghat, Samira Molaei Ramshe, Ali Zare, Behnam Alipoor, Dirk Klee, Marc Sturm, Stephan Ossowski, Henry Houlden, Olaf Riess, Dagmar Wieczorek, Ryan Gavin, Reza Maroofian, Peter Krawitz, Binnaz Yalcin, Felix Distelmaier, Tobias B Haack, Genomics England Research Consortium, ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations, Brain, Volume 147, Issue 7, July 2024, Pages 2471\u20132482, https:\/\/doi.org\/10.1093\/brain\/awae058","DOI":"10.1093\/brain\/awae058"},{"key":"1699_CR65","doi-asserted-by":"publisher","first-page":"72","DOI":"10.1016\/j.nlm.2015.11.020","volume":"127","author":"S Amuti","year":"2016","unstructured":"Amuti S, Tang Y, Wu S, Liu L, Huang L, Zhang H, et al. Neuroplastin 65 mediates cognitive functions via excitatory\/inhibitory synapse imbalance and ERK signal pathway. Neurobiol Learn Mem. 2016;127:72\u201383. https:\/\/doi.org\/10.1016\/j.nlm.2015.11.020. (Epub 2015 Dec 10 PMID: 26691780).","journal-title":"Neurobiol Learn Mem"},{"issue":"2","key":"1699_CR66","doi-asserted-by":"publisher","first-page":"769","DOI":"10.1534\/genetics.106.056945","volume":"173","author":"JR Bateman","year":"2006","unstructured":"Bateman JR, Lee AM, Wu CT. Site-specific transformation of Drosophila via phiC31 integrase-mediated cassette exchange. Genetics. 2006;173(2):769\u201377. https:\/\/doi.org\/10.1534\/genetics.106.056945.","journal-title":"Genetics"},{"issue":"1","key":"1699_CR67","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1186\/s13064-020-00147-5","volume":"15","author":"VT Chou","year":"2020","unstructured":"Chou VT, Johnson SA, Van Vactor D. Synapse development and maturation at the Drosophila neuromuscular junction. Neural Dev. 2020;15(1):11. https:\/\/doi.org\/10.1186\/s13064-020-00147-5.","journal-title":"Neural Dev"},{"issue":"7286","key":"1699_CR68","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1038\/nature08799","volume":"464","author":"F Schnorrer","year":"2010","unstructured":"Schnorrer F, Sch\u00f6nbauer C, Langer CC, Dietzl G, Novatchkova M, Schernhuber K, et al. Systematic genetic analysis of muscle morphogenesis and function in Drosophila. Nature. 2010;464(7286):287\u201391. https:\/\/doi.org\/10.1038\/nature08799.","journal-title":"Nature"},{"issue":"1","key":"1699_CR69","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1111\/gbb.12256","volume":"15","author":"TM Kazdoba","year":"2016","unstructured":"Kazdoba TM, Leach PT, Crawley JN. Behavioral phenotypes of genetic mouse models of autism. Genes Brain Behav. 2016;15(1):7\u201326. https:\/\/doi.org\/10.1111\/gbb.12256. (Epub 2015 Oct 22. PMID: 26403076; PMCID: PMC4775274).","journal-title":"Genes Brain Behav"},{"issue":"3","key":"1699_CR70","doi-asserted-by":"publisher","first-page":"693","DOI":"10.1016\/j.ajhg.2025.02.001","volume":"112","author":"RS Dhindsa","year":"2025","unstructured":"Dhindsa RS, Weido BA, Dhindsa JS, Shetty AJ, Sands CF, Petrovski S, et al. Genome-wide prediction of dominant and recessive neurodevelopmental disorder-associated genes. Am J Hum Genet. 2025;112(3):693\u2013708. https:\/\/doi.org\/10.1016\/j.ajhg.2025.02.001. (Epub 2025 Feb 26. PMID: 40015282; PMCID: PMC11947176).","journal-title":"Am J Hum Genet"},{"issue":"1","key":"1699_CR71","doi-asserted-by":"publisher","first-page":"222","DOI":"10.1523\/JNEUROSCI.1808-15.2016","volume":"36","author":"L Carrott","year":"2016","unstructured":"Carrott L, Bowl MR, Aguilar C, Johnson SL, Chessum L, West M, et al. Absence of neuroplastin-65 affects synaptogenesis in mouse inner hair cells and causes profound hearing loss. J Neurosci. 2016;36(1):222\u201334. https:\/\/doi.org\/10.1523\/JNEUROSCI.1808-15.2016. (PMID: 26740663; PMCID: PMC4701962).","journal-title":"J Neurosci"},{"issue":"5","key":"1699_CR72","doi-asserted-by":"publisher","first-page":"1533","DOI":"10.1007\/s00429-021-02269-w","volume":"226","author":"X Lin","year":"2021","unstructured":"Lin X, Brunk MGK, Yuanxiang P, Curran AW, Zhang E, St\u00f6ber F, et al. Neuroplastin expression is essential for hearing and hair cell PMCA expression. Brain Struct Funct. 2021;226(5):1533\u201351. https:\/\/doi.org\/10.1007\/s00429-021-02269-w.","journal-title":"Brain Struct Funct"},{"issue":"13","key":"1699_CR73","doi-asserted-by":"publisher","first-page":"8973","DOI":"10.1074\/jbc.M113.514992","volume":"289","author":"R Herrera-Molina","year":"2014","unstructured":"Herrera-Molina R, Sarto-Jackson I, Montenegro-Venegas C, Heine M, Smalla KH, Seidenbecher CI, et al. Structure of excitatory synapses and GABAA receptor localization at inhibitory synapses are regulated by neuroplastin-65. J Biol Chem. 2014;289(13):8973\u201388. https:\/\/doi.org\/10.1074\/jbc.M113.514992.","journal-title":"J Biol Chem"},{"issue":"9","key":"1699_CR74","doi-asserted-by":"publisher","first-page":"e2019194118","DOI":"10.1073\/pnas.2019194118","volume":"118","author":"CH Jiang","year":"2021","unstructured":"Jiang CH, Wei M, Zhang C, Shi YS. The amino-terminal domain of GluA1 mediates LTP maintenance via interaction with neuroplastin-65. Proc Natl Acad Sci U S A. 2021;118(9):e2019194118. https:\/\/doi.org\/10.1073\/pnas.2019194118.","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"2","key":"1699_CR75","doi-asserted-by":"publisher","first-page":"e22289","DOI":"10.1002\/syn.22289","volume":"78","author":"Z Do\u011fanyi\u011fit","year":"2024","unstructured":"Do\u011fanyi\u011fit Z, Okan A, Y\u0131lmaz S, U\u011fuz AC, Aky\u00fcz E. Gender-related variation expressions of neuroplastin TRAF6, GluA1, GABA(A) receptor, and PMCA in cortex, hippocampus, and brainstem in an experimental epilepsy model. Synapse. 2024;78(2):e22289. https:\/\/doi.org\/10.1002\/syn.22289. (PMID: 38436644).","journal-title":"Synapse"},{"issue":"17","key":"1699_CR76","doi-asserted-by":"publisher","first-page":"14201","DOI":"10.1074\/jbc.M111.293175","volume":"287","author":"I Sarto-Jackson","year":"2012","unstructured":"Sarto-Jackson I, Milenkovic I, Smalla KH, Gundelfinger ED, Kaehne T, Herrera-Molina R, et al. The cell adhesion molecule neuroplastin-65 is a novel interaction partner of \u03b3-aminobutyric acid type A receptors. J Biol Chem. 2012;287(17):14201\u201314. https:\/\/doi.org\/10.1074\/jbc.M111.293175. (Epub 2012 Mar 2).","journal-title":"J Biol Chem"},{"issue":"1","key":"1699_CR77","doi-asserted-by":"publisher","first-page":"707","DOI":"10.1186\/s12967-023-04596-4","volume":"21","author":"S Li","year":"2023","unstructured":"Li S, Wei X, Huang H, Ye L, Ma M, Sun L, et al. Neuroplastin exerts antiepileptic effects through binding to the \u03b11 subunit of GABA type A receptors to inhibit the internalization of the receptors. J Transl Med. 2023;21(1):707. https:\/\/doi.org\/10.1186\/s12967-023-04596-4. (PMID:37814294;PMCID:PMC10563248).","journal-title":"J Transl Med"},{"issue":"33","key":"1699_CR78","doi-asserted-by":"publisher","first-page":"e2411234121","DOI":"10.1073\/pnas.2411234121","volume":"121","author":"RA Kitamura","year":"2024","unstructured":"Kitamura RA, Hummel D, Ustione A, Piston DW, Urano F. Dual role of neuroplastin in pancreatic \u03b2 cells: regulating insulin secretion and promoting islet inflammation. Proc Natl Acad Sci U S A. 2024;121(33):e2411234121. https:\/\/doi.org\/10.1073\/pnas.2411234121. (Epub 2024 Aug 6. PMID: 39666939; PMCID: PMC11331099).","journal-title":"Proc Natl Acad Sci U S A"}],"container-title":["Genome Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13073-026-01699-7","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13073-026-01699-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13073-026-01699-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T09:44:03Z","timestamp":1782899043000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1186\/s13073-026-01699-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,1]]},"references-count":78,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["1699"],"URL":"https:\/\/doi.org\/10.1186\/s13073-026-01699-7","relation":{},"ISSN":["1756-994X"],"issn-type":[{"value":"1756-994X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,1]]},"assertion":[{"value":"5 August 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 June 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 July 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This investigation was approved by the ethics committee of the University of Leipzig (402\/16-ek). The referring physicians obtained written informed consent for the described molecular genetic testing and permission for publication of the data from all individuals and\/or their legal representatives according to the guidelines of the ethics committees and review boards of their respective institutions. Animal husbandry, behavioral tests, and tissue collection were conducted in accordance with German (Tierschutzgesetz TierSchG) and European legislations (European Communities Council Directive (2010\/63\/EU) for the care of laboratory animals) and with the respective legal and ethical approval by the legal authorities (Landesverwaltungsamt Halle, Sachsen-Anhalt, Germany). All protocols and the research adhere to the ethical principles outlined in the \u2060Declaration of Helsinki.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The referring physicians obtained permission for publication of the data from all individuals and\/or their legal representatives according to the guidelines of the ethics committees and review boards of their respective institutions.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"HC and MJGS are employees of and may hold stock in GeneDx, LLC. The other authors report no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"93"}}