{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T23:28:59Z","timestamp":1781738939123,"version":"3.54.5"},"reference-count":60,"publisher":"MDPI AG","issue":"15","license":[{"start":{"date-parts":[[2024,8,2]],"date-time":"2024-08-02T00:00:00Z","timestamp":1722556800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Zuckerman STEM Leadership Program","award":["1994\/21"],"award-info":[{"award-number":["1994\/21"]}]},{"name":"Zuckerman STEM Leadership Program","award":["352\/21"],"award-info":[{"award-number":["352\/21"]}]},{"name":"Israel Science Foundation (ISF)","award":["1994\/21"],"award-info":[{"award-number":["1994\/21"]}]},{"name":"Israel Science Foundation (ISF)","award":["352\/21"],"award-info":[{"award-number":["352\/21"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Smith\u2013Magenis Syndrome (SMS) is a rare genetic disorder, characterized by intellectual disability (ID), behavioral impairments, and sleep disturbances, as well as multiple organ anomalies in some affected individuals. The syndrome is caused by a deletion in the chromosome band around 17p11.2, including the Retinoic Acid Induced 1 (RAI1) gene, a multifaceted transcriptional regulator that modulates the expression of genes involved in cellular proliferation and neurodevelopment. This gene has a positive role in regulating BDNF and, importantly, affects several cell mechanisms and pathways such as the nigro-striatal pathway, which is crucial for motor function. Parkinson\u2019s disease (PD) is one of the most common neurodegenerative diseases in older populations. It is characterized by various physical symptoms including tremors, loss of balance, bradykinesia, and a stooping posture. We present a case study of a patient diagnosed with both SMS and early-onset PD (at the age of 49). The association between both conditions is as yet ambiguous. Genome-wide association studies (GWAS) implicate an association between the RAI1 gene and PD. Similarly, the co-existence of both SMS and PD in the patient suggests a possible association between RAI1 copy number variations (CNVs) and PD, further indicating that RAI1 has strong implications for PD pathogenesis. Our results suggest that RAI1 CNVs and the pathophysiology of PD may be related, underscoring the need for further research in this field. Therefore, caregivers of SMS patients should pay careful attention to the possibility of their patients developing EOPD and should consider starting treatment for PD as soon as the first symptoms appear.<\/jats:p>","DOI":"10.3390\/ijms25158447","type":"journal-article","created":{"date-parts":[[2024,8,2]],"date-time":"2024-08-02T13:14:42Z","timestamp":1722604482000},"page":"8447","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Case Report: A Case of a Patient with Smith\u2013Magenis Syndrome and Early-Onset Parkinson\u2019s Disease"],"prefix":"10.3390","volume":"25","author":[{"given":"Tchelet","family":"Stern","sequence":"first","affiliation":[{"name":"Sagol Department of Neurobiology, University of Haifa, Haifa 3103301, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6173-8584","authenticated-orcid":false,"given":"Yara","family":"Hussein","sequence":"additional","affiliation":[{"name":"Sagol Department of Neurobiology, University of Haifa, Haifa 3103301, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2688-5233","authenticated-orcid":false,"given":"Diogo","family":"Cordeiro","sequence":"additional","affiliation":[{"name":"Sagol Department of Neurobiology, University of Haifa, Haifa 3103301, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-0723-0229","authenticated-orcid":false,"given":"Hagit","family":"Sadis","sequence":"additional","affiliation":[{"name":"Sagol Department of Neurobiology, University of Haifa, Haifa 3103301, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tali","family":"Garin-Shkolnik","sequence":"additional","affiliation":[{"name":"Center for Rare Diseases, Emek Medical Center, Afula 1834111, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronen","family":"Spiegel","sequence":"additional","affiliation":[{"name":"Pediatric Department B, Emek Medical Center, Afula 1834111, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sagit","family":"Cohen","sequence":"additional","affiliation":[{"name":"Nofim, Daycare, Migdal 1495000, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruth","family":"Harari","sequence":"additional","affiliation":[{"name":"Nofim, Daycare, Migdal 1495000, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilana","family":"Schlesinger","sequence":"additional","affiliation":[{"name":"Department of Neurology, Rambam Health Care Campus, Haifa 3109601, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2644-7068","authenticated-orcid":false,"given":"Shani","family":"Stern","sequence":"additional","affiliation":[{"name":"Sagol Department of Neurobiology, University of Haifa, Haifa 3103301, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,8,2]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1002\/(SICI)1096-8628(19960329)62:3<247::AID-AJMG9>3.0.CO;2-Q","article-title":"Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)","volume":"62","author":"Greenberg","year":"1996","journal-title":"Am. J. Med. Genet."},{"key":"ref_2","first-page":"1207","article-title":"Molecular analysis of the Smith-Magenis Syndrome\u2014A possible contiguous-gene syndrome associated with del(17)(p11.2)","volume":"49","author":"Greenberg","year":"1991","journal-title":"Am. J. Hum. Genet."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1002\/ajmg.1320240303","article-title":"Interstitial deletion of (17)(p11. 2p11. 2) in nine patients","volume":"24","author":"Smith","year":"1986","journal-title":"Am. J. Med. Genet."},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"Rinaldi, B., Villa, R., Sironi, A., Garavelli, L., Finelli, P., and Bedeschi, M.F. (2022). Smith-Magenis Syndrome\u2014Clinical Review, Biological Background and Related Disorders. Genes, 13.","DOI":"10.3390\/genes13020335"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1038\/ng1126","article-title":"Mutations in RAI1 associated with Smith\u2013Magenis syn-drome","volume":"33","author":"Slager","year":"2003","journal-title":"Nat. Genet."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1038\/ejhg.2011.167","article-title":"Detection of classical 17p11. 2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith\u2013Magenis syndrome","volume":"20","author":"Vieira","year":"2012","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1136\/jmg.2005.031211","article-title":"RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions","volume":"42","author":"Girirajan","year":"2005","journal-title":"J. Med. Genet."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"85","DOI":"10.2147\/TACG.S128455","article-title":"RAI1 gene mutations: Mechanisms of Smith\u2013Magenis Syndrome","volume":"10","author":"Falco","year":"2017","journal-title":"Appl. Clin. Genet."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/0169-328X(95)00020-S","article-title":"Cloning of a retinoic acid-induced gene, GT1, in the embryonal carcinoma cell line P19: Neuron-specific expression in the mouse brain","volume":"31","author":"Imai","year":"1995","journal-title":"Mol. Brain Res."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1111\/j.1399-0004.2008.01135.x","article-title":"A functional network module for Smith\u2013Magenis syndrome","volume":"75","author":"Girirajan","year":"2009","journal-title":"Clin. Genet."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"4026","DOI":"10.1093\/hmg\/ddq317","article-title":"Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity, and altered fat distribution in mice and humans with no evidence of metabolic syndrome","volume":"19","author":"Burns","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"ref_12","first-page":"949","article-title":"Role and Mechanism of Vitamin A Metabolism in the Pathophysiology of Parkinson\u2019s Disease","volume":"11","author":"Marie","year":"2021","journal-title":"J. Park. Dis."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1126\/science.276.5310.248","article-title":"Dopamine Neuron Agenesis in Nurr1-Deficient Mice","volume":"276","author":"Solomin","year":"1997","journal-title":"Science"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1126\/science.279.5352.863","article-title":"Impaired locomotion and dopamine signaling in retinoid receptor mutant mice","volume":"279","author":"Ghyselinck","year":"1998","journal-title":"Science"},{"key":"ref_15","doi-asserted-by":"crossref","unstructured":"Esteves, M., Crist\u00f3v\u00e3o, A.C., Saraiva, T., Rocha, S.M., Baltazar, G., Ferreira, L., and Bernardino, L. (2015). Retinoic acid-loaded polymeric nanoparticles induce neuroprotection in a mouse model for Parkinson\u2019s disease. Front. Aging Neurosci., 7.","DOI":"10.3389\/fnagi.2015.00020"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1111\/j.1460-9568.2009.06873.x","article-title":"The second brain and Parkinson\u2019s disease","volume":"30","author":"Lebouvier","year":"2009","journal-title":"Eur. J. Neurosci."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1176\/jnp.14.2.223","article-title":"An essay on the shaking palsy","volume":"14","author":"Parkinson","year":"2002","journal-title":"J. Neuropsychiatry Clin. Neurosci."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1002\/mds.870050112","article-title":"Paralysis agitans and levodopa in \u201cAyurveda\u201d: Ancient Indian medical treatise","volume":"5","author":"Manyam","year":"1990","journal-title":"Mov. Disord."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1001\/archneur.63.5.782","article-title":"Early Descriptions of Parkinson Disease in Ancient China","volume":"63","author":"Zhang","year":"2006","journal-title":"Arch. Neurol."},{"key":"ref_20","unstructured":"Sylvius, F. (1736). Opera Medica, Hoc Est, Disputationum Medicarum, Ex Typographia Hertziana. Available online: https:\/\/books.google.co.il\/books?id=bTvFpDY_XN4C."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"a008862","DOI":"10.1101\/cshperspect.a008862","article-title":"The History of Parkinson\u2019s Disease: Early Clinical Descriptions and Neurological Therapies","volume":"1","author":"Goetz","year":"2011","journal-title":"Cold Spring Harb. Perspect. Med."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1016\/S1474-4422(21)00030-2","article-title":"Challenges in the diagnosis of Parkinson\u2019s disease","volume":"20","author":"Tolosa","year":"2021","journal-title":"Lancet Neurol."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1038\/s41531-021-00273-9","article-title":"Lewy body disease or diseases with Lewy bodies?","volume":"8","author":"Colosimo","year":"2022","journal-title":"NPJ Park. Dis."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1602\/neurorx.1.1.139","article-title":"Neurodegeneration and neuroprotection in Parkinson disease","volume":"1","author":"Fahn","year":"2004","journal-title":"NeuroRx"},{"key":"ref_25","doi-asserted-by":"crossref","unstructured":"Chen, L., Huang, Y., Yu, X., Lu, J., Jia, W., Song, J., Liu, L., Wang, Y., Huang, Y., and Xie, J. (2021). Corynoxine Protects Dopaminergic Neurons through Inducing Autophagy and Diminishing Neuroinflammation in Rotenone-Induced Animal Models of Parkinson\u2019s Disease. Front. Pharmacol., 12.","DOI":"10.3389\/fphar.2021.642900"},{"key":"ref_26","doi-asserted-by":"crossref","unstructured":"Chia, S.J., Tan, E.-K., and Chao, Y.-X. (2020). Historical Perspective: Models of Parkinson\u2019s Disease. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21072464"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1038\/s41531-022-00366-z","article-title":"Reduced synaptic activity and dysregulated extracellular matrix pathways in midbrain neurons from Parkinson\u2019s disease patients","volume":"8","author":"Stern","year":"2022","journal-title":"NPJ Park. Dis."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1038\/s41531-024-00653-x","article-title":"Synaptic dysfunction and extracellular matrix dysregulation in dopaminergic neurons from sporadic and E326K-GBA1 Parkinson\u2019s disease patients","volume":"10","author":"Rosh","year":"2024","journal-title":"NPJ Park. Dis."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1038\/s41531-024-00715-0","article-title":"Upregulated ECM genes and increased synaptic activity in Parkinson\u2019s human DA neurons with PINK1\/PRKN mutations","volume":"10","author":"Tripathi","year":"2024","journal-title":"NPJ Park. Dis."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"979","DOI":"10.4103\/1673-5374.382235","article-title":"Focusing on the tetra-partite synapse in Parkinson\u2019s disease research using human patient-derived neurons","volume":"19","author":"Cordeiro","year":"2023","journal-title":"Neural Regen. Res."},{"key":"ref_31","doi-asserted-by":"crossref","unstructured":"Rike, W.A., and Stern, S. (2023). Proteins and Transcriptional Dysregulation of the Brain Extracellular Matrix in Parkinson\u2019s Disease: A Systematic Review. Int. J. Mol. Sci., 24.","DOI":"10.1101\/2023.03.01.23286630"},{"key":"ref_32","first-page":"406","article-title":"Parkinson disease in the elderly adult","volume":"110","author":"Willis","year":"2013","journal-title":"Mo. Med."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"1157","DOI":"10.1503\/cmaj.151179","article-title":"An update on the diagnosis and treatment of Parkinson disease","volume":"188","author":"Rizek","year":"2016","journal-title":"Can. Med. Assoc. J."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1017\/cjn.2015.244","article-title":"Early-onset vs. Late-onset Parkinson\u2019s disease: A Clinical-pathological Study","volume":"43","author":"Ferguson","year":"2016","journal-title":"Can. J. Neurol. Sci."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1002\/mds.870020201","article-title":"Young onset Parkinson\u2019s disease","volume":"2","author":"Quinn","year":"1987","journal-title":"Mov. Disord."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1002\/mds.25019","article-title":"The significance of defining preclinical or prodromal Parkinson\u2019s disease","volume":"27","author":"Olanow","year":"2012","journal-title":"Mov. Disord."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"893","DOI":"10.1002\/ana.23687","article-title":"Meta-analysis of early nonmotor features and risk factors for Parkinson disease","volume":"72","author":"Noyce","year":"2012","journal-title":"Ann. Neurol."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1007\/7854_2014_317","article-title":"Clinical and pathological features of Parkinson\u2019s disease","volume":"22","author":"Schneider","year":"2015","journal-title":"Curr. Top. Behav. Neurosci."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"486","DOI":"10.2174\/1389202914666131210195808","article-title":"Genetic Insights into Sporadic Parkinson\u2019s Disease Pathogenesis","volume":"14","author":"Chai","year":"2014","journal-title":"Curr. Genom."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1111\/ene.14108","article-title":"Parkinson disease","volume":"27","author":"Balestrino","year":"2020","journal-title":"Eur. J. Neurol."},{"key":"ref_41","doi-asserted-by":"crossref","unstructured":"\u00c1lvarez-Castro, J.M. (2020). Gene\u2013Environment Interaction in the Era of Precision Medicine\u2014Filling the Potholes Rather Than Starting to Build a New Road. Front. Genet., 11.","DOI":"10.3389\/fgene.2020.00921"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"101554","DOI":"10.1016\/j.arr.2021.101554","article-title":"Roles of clock genes in the pathogenesis of Parkinson\u2019s disease","volume":"74","author":"Shkodina","year":"2021","journal-title":"Ageing Res. Rev."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1007\/s11064-013-1073-5","article-title":"The Neurobiology of LRRK2 and its Role in the Pathogenesis of Parkinson\u2019s Disease","volume":"39","author":"Rideout","year":"2013","journal-title":"Neurochem. Res."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1001\/archneurol.2007.68","article-title":"Glucocerebrosidase gene mutations: A risk factor for Lewy body disorders","volume":"65","author":"Mata","year":"2008","journal-title":"Arch. Neurol."},{"key":"ref_45","doi-asserted-by":"crossref","unstructured":"International Parkinson\u2019s Disease Genomics Consortium (IPDGC), and Wellcome Trust Case Control Consortium 2 (WTCCC2) (2011). A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson\u2019s Disease. PLoS Genet., 7.","DOI":"10.1371\/journal.pgen.1002142"},{"key":"ref_46","doi-asserted-by":"crossref","unstructured":"Do, C.B., Tung, J.Y., Dorfman, E., Kiefer, A.K., Drabant, E.M., Francke, U., Mountain, J.L., Goldman, S.M., Tanner, C.M., and Langston, J.W. (2011). Web-Based Genome-Wide Association Study Identifies Two Novel Loci and a Substantial Genetic Component for Parkinson\u2019s Disease. PLoS Genet., 7.","DOI":"10.1371\/journal.pgen.1002141"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"213.e3","DOI":"10.1016\/j.neurobiolaging.2016.06.001","article-title":"Genome-wide assessment of Parkinson\u2019s disease in a Southern Spanish population","volume":"45","author":"Price","year":"2016","journal-title":"Neurobiol. Aging"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1111\/j.1399-0004.2007.00815.x","article-title":"Gender, genotype, and phenotype differences in Smith\u2013Magenis syndrome: A meta-analysis of 105 cases","volume":"71","author":"Edelman","year":"2007","journal-title":"Clin. Genet."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1002\/(SICI)1096-8628(19980328)81:2<186::AID-AJMG11>3.0.CO;2-D","article-title":"Sleep disturbance in smith-magenis syndrome (del 17 p11.2)","volume":"81","author":"Smith","year":"1998","journal-title":"Am. J. Med. Genet."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"1353","DOI":"10.1016\/S0896-6273(00)80654-6","article-title":"An Essential Role for Retinoid Receptors RAR\u03b2 and RXR\u03b3 In Long-Term Potentiation and Depression","volume":"21","author":"Chiang","year":"1998","journal-title":"Neuron"},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1016\/j.bmc.2013.11.025","article-title":"Retinoic acid signaling pathways in development and diseases","volume":"22","author":"Das","year":"2014","journal-title":"Bioorg. Med. Chem."},{"key":"ref_52","first-page":"385","article-title":"Clinical and genetic aspects of Angelman syndrome","volume":"12","author":"Williams","year":"2010","journal-title":"Anesth. Analg."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1002\/ana.22124","article-title":"Rett syndrome: Revised diagnostic criteria and nomenclature","volume":"68","author":"Neul","year":"2010","journal-title":"Ann. Neurol."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"232","DOI":"10.5114\/ninp.2013.35585","article-title":"Tremor in neurodegenerative ataxias, Huntington disease and tic disorder","volume":"47","author":"Krawczyk","year":"2013","journal-title":"Neurol. Neurochir. Pol."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"2017","DOI":"10.1002\/mds.28663","article-title":"Tremor and Parkinsonism in Chromosomopathies\u2014A Systematic Review","volume":"36","author":"Carvalho","year":"2021","journal-title":"Mov. Disord."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"e13610","DOI":"10.15252\/emmm.202013610","article-title":"Modeling genetic epileptic encephalopathies using brain organoids","volume":"13","author":"Steinberg","year":"2021","journal-title":"EMBO Mol. Med."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"7498","DOI":"10.1038\/s41380-021-01281-0","article-title":"IQSEC2 mutation associated with epilepsy, intellectual disability, and autism results in hyperexcitability of patient-derived neurons and deficient synaptic transmission","volume":"26","author":"Brant","year":"2021","journal-title":"Mol. Psychiatry"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1038\/s41398-023-02535-x","article-title":"Early maturation and hyperexcitability is a shared phenotype of cortical neurons derived from different ASD-associated mutations","volume":"13","author":"Hussein","year":"2023","journal-title":"Transl. Psychiatry"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"3558","DOI":"10.1038\/s41380-020-00862-9","article-title":"Inositol monophosphatase 1 (IMPA1) mutation in intellectual disability patients impairs neurogenesis but not gliogenesis","volume":"26","author":"Figueiredo","year":"2020","journal-title":"Mol. Psychiatry"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"113466","DOI":"10.1016\/j.celrep.2023.113466","article-title":"NGLY1 mutations cause protein aggregation in human neurons","volume":"42","author":"Manole","year":"2023","journal-title":"Cell Rep."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/25\/15\/8447\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T15:28:49Z","timestamp":1760110129000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/25\/15\/8447"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8,2]]},"references-count":60,"journal-issue":{"issue":"15","published-online":{"date-parts":[[2024,8]]}},"alternative-id":["ijms25158447"],"URL":"https:\/\/doi.org\/10.3390\/ijms25158447","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,8,2]]}}}