{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T18:47:14Z","timestamp":1781290034327,"version":"3.54.1"},"reference-count":53,"publisher":"Elsevier BV","issue":"8","license":[{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,1,15]],"date-time":"2025-01-15T00:00:00Z","timestamp":1736899200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82230062"],"award-info":[{"award-number":["82230062"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82402156"],"award-info":[{"award-number":["82402156"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31970668"],"award-info":[{"award-number":["31970668"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012659","name":"Foundation for Innovative Research Groups of the National Natural Science Foundation of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004835","name":"Zhejiang University","doi-asserted-by":"publisher","award":["188020-193810101\/089"],"award-info":[{"award-number":["188020-193810101\/089"]}],"id":[{"id":"10.13039\/501100004835","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Genetics and Genomics"],"published-print":{"date-parts":[[2025,8]]},"DOI":"10.1016\/j.jgg.2025.01.004","type":"journal-article","created":{"date-parts":[[2025,1,14]],"date-time":"2025-01-14T02:36:56Z","timestamp":1736822216000},"page":"1021-1033","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"title":["Biallelic variants in SREBF2 cause autosomal recessive spastic paraplegia"],"prefix":"10.1016","volume":"52","author":[{"given":"Qiao","family":"Wei","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenlu","family":"Fan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong-Fu","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pei-Shan","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Man","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hai-Lin","family":"Dong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hao","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jialan","family":"Lyu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen-Jiao","family":"Luo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0571-2598","authenticated-orcid":false,"given":"Dian-Fu","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wanzhong","family":"Ge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2106-572X","authenticated-orcid":false,"given":"Zhi-Ying","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jgg.2025.01.004_bib1","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.46112","article-title":"An engineered monomer binding-protein for \u03b1-synuclein efficiently inhibits the proliferation of amyloid fibrils","volume":"8","author":"Agerschou","year":"2019","journal-title":"Elife"},{"key":"10.1016\/j.jgg.2025.01.004_bib2","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1007\/s10048-011-0291-8","article-title":"A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)","volume":"12","author":"Alazami","year":"2011","journal-title":"Neurogenetics"},{"key":"10.1016\/j.jgg.2025.01.004_bib3","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.nbd.2017.02.007","article-title":"Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration","volume":"102","author":"Branchu","year":"2017","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.jgg.2025.01.004_bib4","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1186\/s40035-021-00264-z","article-title":"Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias","volume":"10","author":"Cheng","year":"2021","journal-title":"Transl. Neurodegener."},{"key":"10.1016\/j.jgg.2025.01.004_bib5","doi-asserted-by":"crossref","first-page":"74","DOI":"10.3389\/fnins.2020.00074","article-title":"Lipids in the physiopathology of hereditary spastic paraplegias","volume":"14","author":"Darios","year":"2020","journal-title":"Front. Neurosci."},{"key":"10.1016\/j.jgg.2025.01.004_bib6","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1086\/301930","article-title":"A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3","volume":"63","author":"De Michele","year":"1998","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.jgg.2025.01.004_bib7","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1007\/s00401-023-02579-9","article-title":"AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model","volume":"146","author":"Deng","year":"2023","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.jgg.2025.01.004_bib8","doi-asserted-by":"crossref","first-page":"1014","DOI":"10.1016\/j.jgg.2023.06.003","article-title":"Gain of function screen of PATs reveals an essential role of Hip14 in Drosophila host defense","volume":"50","author":"Deng","year":"2023","journal-title":"J. Genet. Genomics"},{"key":"10.1016\/j.jgg.2025.01.004_bib9","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1016\/j.cis.2014.03.003","article-title":"Recent developments in the field of bending rigidity measurements on membranes","volume":"208","author":"Dimova","year":"2014","journal-title":"Adv. Colloid Interface Sci."},{"key":"10.1016\/j.jgg.2025.01.004_bib10","doi-asserted-by":"crossref","first-page":"2457","DOI":"10.1093\/brain\/awab135","article-title":"Bi-allelic loss of function variants in COX20 gene cause autosomal recessive sensory neuronopathy","volume":"144","author":"Dong","year":"2021","journal-title":"Brain"},{"key":"10.1016\/j.jgg.2025.01.004_bib11","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1093\/brain\/aww307","article-title":"Loss-of-function mutations in the ATP13A2\/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)","volume":"140","author":"Estrada-Cuzcano","year":"2017","journal-title":"Brain"},{"key":"10.1016\/j.jgg.2025.01.004_bib12","doi-asserted-by":"crossref","first-page":"1189","DOI":"10.1073\/pnas.1620506114","article-title":"Loss of astrocyte cholesterol synthesis disrupts neuronal function and alters whole-body metabolism","volume":"114","author":"Ferris","year":"2017","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.jgg.2025.01.004_bib13","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1007\/s00401-013-1115-8","article-title":"Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms","volume":"126","author":"Fink","year":"2013","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.jgg.2025.01.004_bib14","doi-asserted-by":"crossref","first-page":"2102","DOI":"10.1172\/JCI46069","article-title":"The role of lipid droplets in metabolic disease in rodents and humans","volume":"121","author":"Greenberg","year":"2011","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.jgg.2025.01.004_bib15","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1186\/s40478-017-0481-1","article-title":"Clusterin protects neurons against intracellular proteotoxicity","volume":"5","author":"Gregory","year":"2017","journal-title":"Acta Neuropathol. Commun"},{"key":"10.1016\/j.jgg.2025.01.004_bib16","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1016\/S0140-6736(83)92879-9","article-title":"Classification of the hereditary ataxias and paraplegias","volume":"1","author":"Harding","year":"1983","journal-title":"Lancet"},{"key":"10.1016\/j.jgg.2025.01.004_bib17","doi-asserted-by":"crossref","first-page":"4984","DOI":"10.1093\/hmg\/ddv220","article-title":"Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease","volume":"24","author":"Hirst","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.jgg.2025.01.004_bib18","doi-asserted-by":"crossref","first-page":"1125","DOI":"10.1172\/JCI0215593","article-title":"SREBPs: activators of the complete program of cholesterol and fatty acid synthesis in the liver","volume":"109","author":"Horton","year":"2002","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.jgg.2025.01.004_bib19","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1083\/jcb.201305076","article-title":"Erlins restrict SREBP activation in the ER and regulate cellular cholesterol homeostasis","volume":"203","author":"Huber","year":"2013","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.jgg.2025.01.004_bib20","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1016\/j.bbalip.2010.04.005","article-title":"Genetic evidence for the involvement of lipid metabolism in Alzheimer's disease","volume":"1801","author":"Jones","year":"2010","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.jgg.2025.01.004_bib21","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1016\/j.neurol.2015.02.017","article-title":"Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting","volume":"171","author":"Klebe","year":"2015","journal-title":"Rev. Neurol. (Paris)"},{"key":"10.1016\/j.jgg.2025.01.004_bib22","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1016\/j.jgg.2023.02.001","article-title":"Nutritional geometry framework of sucrose taste in Drosophila","volume":"50","author":"Li","year":"2023","journal-title":"J. Genet. Genomics"},{"key":"10.1016\/j.jgg.2025.01.004_bib23","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1186\/s13024-019-0338-0","article-title":"Neurofilament light chain is a promising serum biomarker in spinocerebellar ataxia type 3","volume":"14","author":"Li","year":"2019","journal-title":"Mol. Neurodegener."},{"key":"10.1016\/j.jgg.2025.01.004_bib24","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1007\/s00109-018-1655-4","article-title":"Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients","volume":"96","author":"Lu","year":"2018","journal-title":"J. Mol. Med."},{"key":"10.1016\/j.jgg.2025.01.004_bib25","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1093\/brain\/awx297","article-title":"Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5","volume":"141","author":"Marelli","year":"2018","journal-title":"Brain"},{"key":"10.1016\/j.jgg.2025.01.004_bib26","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1080\/14789450.2023.2260952","article-title":"Hereditary spastic paraplegias proteome: common pathways and pathogenetic mechanisms","volume":"20","author":"Martinello","year":"2023","journal-title":"Expert Rev. Proteomics"},{"key":"10.1016\/j.jgg.2025.01.004_bib27","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1006\/geno.1996.4525","article-title":"Structure of the human gene encoding sterol regulatory element binding protein 2 (SREBF2)","volume":"40","author":"Miserez","year":"1997","journal-title":"Genomics"},{"key":"10.1016\/j.jgg.2025.01.004_bib28","doi-asserted-by":"crossref","first-page":"542","DOI":"10.4161\/auto.4600","article-title":"How to interpret LC3 immunoblotting","volume":"3","author":"Mizushima","year":"2007","journal-title":"Autophagy"},{"key":"10.1016\/j.jgg.2025.01.004_bib29","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/j.cell.2010.01.028","article-title":"Methods in mammalian autophagy research","volume":"140","author":"Mizushima","year":"2010","journal-title":"Cell"},{"key":"10.1016\/j.jgg.2025.01.004_bib30","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1186\/1471-2164-13-486","article-title":"A genome-wide survey for prion-regulated miRNAs associated with cholesterol homeostasis","volume":"13","author":"Montag","year":"2012","journal-title":"BMC Genomics"},{"key":"10.1016\/j.jgg.2025.01.004_bib31","doi-asserted-by":"crossref","first-page":"18002","DOI":"10.1074\/jbc.M111.238311","article-title":"Identification of luminal Loop 1 of Scap protein as the sterol sensor that maintains cholesterol homeostasis","volume":"286","author":"Motamed","year":"2011","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.jgg.2025.01.004_bib32","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1007\/s10072-020-04981-7","article-title":"Hereditary spastic paraplegia","volume":"42","author":"Murala","year":"2021","journal-title":"Neurol. Sci."},{"key":"10.1016\/j.jgg.2025.01.004_bib33","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1126\/science.1247363","article-title":"Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders","volume":"343","author":"Novarino","year":"2014","journal-title":"Science"},{"key":"10.1016\/j.jgg.2025.01.004_bib34","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1002\/acn3.64","article-title":"Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11","volume":"1","author":"Renvoise","year":"2014","journal-title":"Ann. Clin .Transl. Neurol."},{"key":"10.1016\/j.jgg.2025.01.004_bib35","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1093\/brain\/awz382","article-title":"Lipid metabolic pathways converge in motor neuron degenerative diseases","volume":"143","author":"Rickman","year":"2020","journal-title":"Brain"},{"key":"10.1016\/j.jgg.2025.01.004_bib36","doi-asserted-by":"crossref","first-page":"4616","DOI":"10.1093\/hmg\/ddt310","article-title":"Sterol metabolism regulates neuroserpin polymer degradation in the absence of the unfolded protein response in the dementia FENIB","volume":"22","author":"Roussel","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.jgg.2025.01.004_bib37","doi-asserted-by":"crossref","first-page":"2003","DOI":"10.1093\/brain\/awac391","article-title":"The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15","volume":"146","author":"Saffari","year":"2023","journal-title":"Brain"},{"key":"10.1016\/j.jgg.2025.01.004_bib38","doi-asserted-by":"crossref","first-page":"738","DOI":"10.1002\/ana.26228","article-title":"Dominant KPNA3 mutations cause infantile-onset hereditary spastic paraplegia","volume":"90","author":"Schob","year":"2021","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.jgg.2025.01.004_bib39","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1016\/j.cmet.2011.03.005","article-title":"Genome-wide localization of SREBP-2 in hepatic chromatin predicts a role in autophagy","volume":"13","author":"Seo","year":"2011","journal-title":"Cell Metabol."},{"key":"10.1016\/j.jgg.2025.01.004_bib40","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1016\/j.bbrc.2010.01.121","article-title":"LC3, a microtubule-associated protein1A\/B light chain3, is involved in cytoplasmic lipid droplet formation","volume":"393","author":"Shibata","year":"2010","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.jgg.2025.01.004_bib41","doi-asserted-by":"crossref","first-page":"1131","DOI":"10.1038\/nature07976","article-title":"Autophagy regulates lipid metabolism","volume":"458","author":"Singh","year":"2009","journal-title":"Nature"},{"key":"10.1016\/j.jgg.2025.01.004_bib42","doi-asserted-by":"crossref","first-page":"3095","DOI":"10.1093\/brain\/awac123","article-title":"TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia","volume":"145","author":"Tabara","year":"2022","journal-title":"Brain"},{"key":"10.1016\/j.jgg.2025.01.004_bib43","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1016\/j.ajhg.2007.10.001","article-title":"Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration","volume":"82","author":"Tsaousidou","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.jgg.2025.01.004_bib44","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1146\/annurev-biochem-061009-102430","article-title":"Lipid droplets and cellular lipid metabolism","volume":"81","author":"Walther","year":"2012","journal-title":"Annu. Rev. Biochem."},{"key":"10.1016\/j.jgg.2025.01.004_bib45","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.ajhg.2020.05.006","article-title":"Mutations in SREBF1, encoding sterol regulatory element binding transcription factor 1, cause autosomal-dominant IFAP syndrome","volume":"107","author":"Wang","year":"2020","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.jgg.2025.01.004_bib46","doi-asserted-by":"crossref","first-page":"952","DOI":"10.1034\/j.1600-0854.2000.011205.x","article-title":"Cholesterol is required for the formation of regulated and constitutive secretory vesicles from the trans-Golgi network","volume":"1","author":"Wang","year":"2000","journal-title":"Traffic"},{"key":"10.1016\/j.jgg.2025.01.004_bib47","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1186\/s40035-019-0157-9","article-title":"Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia","volume":"8","author":"Wei","year":"2019","journal-title":"Transl. Neurodegener."},{"key":"10.1016\/j.jgg.2025.01.004_bib48","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1016\/j.jgg.2021.06.008","article-title":"A novel PCYT2 mutation identified in a Chinese consanguineous family with hereditary spastic paraplegia","volume":"48","author":"Wei","year":"2021","journal-title":"J. Genet. Genomics."},{"key":"10.1016\/j.jgg.2025.01.004_bib49","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1111\/cge.13517","article-title":"Clinical and genetic characterization of a cohort of Chinese patients with hereditary spastic paraplegia","volume":"95","author":"Yan","year":"2019","journal-title":"Clin. Genet."},{"key":"10.1016\/j.jgg.2025.01.004_bib50","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1016\/S0092-8674(02)00872-3","article-title":"Crucial step in cholesterol homeostasis: sterols promote binding of SCAP to INSIG-1, a membrane protein that facilitates retention of SREBPs in ER","volume":"110","author":"Yang","year":"2002","journal-title":"Cell"},{"key":"10.1016\/j.jgg.2025.01.004_bib51","doi-asserted-by":"crossref","first-page":"1371","DOI":"10.1016\/j.bpj.2009.06.025","article-title":"Roles of cholesterol in vesicle fusion and motion","volume":"97","author":"Zhang","year":"2009","journal-title":"Biophys. J."},{"key":"10.1016\/j.jgg.2025.01.004_bib52","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.jgg.2023.08.001","article-title":"Gene therapy for monogenic disorders: challenges, strategies, and perspectives","volume":"5","author":"Zhang","year":"2024","journal-title":"J. Genet. Genomics"},{"key":"10.1016\/j.jgg.2025.01.004_bib53","doi-asserted-by":"crossref","first-page":"2001","DOI":"10.1038\/s41418-020-00731-6","article-title":"Site-1 protease controls osteoclastogenesis by mediating LC3 transcription","volume":"28","author":"Zheng","year":"2021","journal-title":"Cell Death Differ."}],"container-title":["Journal of Genetics and Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1673852725000190?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1673852725000190?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T22:39:23Z","timestamp":1762555163000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1673852725000190"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8]]},"references-count":53,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2025,8]]}},"alternative-id":["S1673852725000190"],"URL":"https:\/\/doi.org\/10.1016\/j.jgg.2025.01.004","relation":{},"ISSN":["1673-8527"],"issn-type":[{"value":"1673-8527","type":"print"}],"subject":[],"published":{"date-parts":[[2025,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Biallelic variants in SREBF2 cause autosomal recessive spastic paraplegia","name":"articletitle","label":"Article Title"},{"value":"Journal of Genetics and Genomics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jgg.2025.01.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, and Genetics Society of China. Published by Elsevier Limited and Science Press\u00e9","name":"copyright","label":"Copyright"}]}}