{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T20:15:20Z","timestamp":1767989720709,"version":"3.49.0"},"reference-count":145,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2023,5,17]],"date-time":"2023-05-17T00:00:00Z","timestamp":1684281600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>FAM20C (family with sequence similarity 20, member C) is a serine\/threonine-specific protein kinase that is ubiquitously expressed and mainly associated with biomineralization and phosphatemia regulation. It is mostly known due to pathogenic variants causing its deficiency, which results in Raine syndrome (RNS), a sclerosing bone dysplasia with hypophosphatemia. The phenotype is recognized by the skeletal features, which are related to hypophosphorylation of different FAM20C bone-target proteins. However, FAM20C has many targets, including brain proteins and the cerebrospinal fluid phosphoproteome. Individuals with RNS can have developmental delay, intellectual disability, seizures, and structural brain defects, but little is known about FAM20C brain-target-protein dysregulation or about a potential pathogenesis associated with neurologic features. In order to identify the potential FAM20C actions on the brain, an in silico analysis was conducted. Structural and functional defects reported in RNS were described; FAM20C targets and interactors were identified, including their brain expression. Gene ontology of molecular processes, function, and components was completed for these targets, as well as for potential involved signaling pathways and diseases. The BioGRID and Human Protein Atlas databases, the Gorilla tool, and the PANTHER and DisGeNET databases were used. Results show that genes with high expression in the brain are involved in cholesterol and lipoprotein processes, plus axo-dendritic transport and the neuron part. These results could highlight some proteins involved in the neurologic pathogenesis of RNS.<\/jats:p>","DOI":"10.3390\/ijms24108904","type":"journal-article","created":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T08:09:44Z","timestamp":1684397384000},"page":"8904","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Potential Role of Protein Kinase FAM20C on the Brain in Raine Syndrome, an In Silico Analysis"],"prefix":"10.3390","volume":"24","author":[{"given":"Icela","family":"Palma-Lara","sequence":"first","affiliation":[{"name":"Laboratorio de Morfolog\u00eda Celular y Molecular, Escuela Superior de Medicina, Instituto Polit\u00e9cnico Nacional, Ciudad de M\u00e9xico 11340, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia","family":"Garc\u00eda Alonso-Themann","sequence":"additional","affiliation":[{"name":"Instituto Nacional de Perinatolog\u00eda Isidro Espinosa de los Reyes, Ciudad de M\u00e9xico 11000, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Javier","family":"P\u00e9rez-Dur\u00e1n","sequence":"additional","affiliation":[{"name":"Instituto Nacional de Perinatolog\u00eda Isidro Espinosa de los Reyes, Ciudad de M\u00e9xico 11000, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ricardo","family":"God\u00ednez-Aguilar","sequence":"additional","affiliation":[{"name":"Divisi\u00f3n de Investigaci\u00f3n, Hospital Ju\u00e1rez de M\u00e9xico, Ciudad de M\u00e9xico 11340, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9690-1940","authenticated-orcid":false,"given":"Jos\u00e9","family":"Bonilla-Delgado","sequence":"additional","affiliation":[{"name":"Unidad de Investigaci\u00f3n, Hospital Regional de Ixtapaluca, Ixtapaluca 56530, Mexico"},{"name":"Departamento de Biotecnolog\u00eda, Escuela de Ingenier\u00eda y Ciencias, Instituto Tecnol\u00f3gico de Monterrey, Toluca de Lerdo 50110, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dami\u00e1n","family":"G\u00f3mez-Archila","sequence":"additional","affiliation":[{"name":"Departamento de Oncolog\u00eda Quir\u00fargica, Hospital de Gineco-Obstetricia 3, Centro M\u00e9dico Nacional \u201cLa Raza\u201d, Ciudad de M\u00e9xico 02990, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Mar\u00eda","family":"Espinosa-Garc\u00eda","sequence":"additional","affiliation":[{"name":"Laboratorio de Farmacolog\u00eda Cl\u00ednica, Hospital General de M\u00e9xico, Ciudad de M\u00e9xico 06720, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9453-6874","authenticated-orcid":false,"given":"Manuel","family":"Nolasco-Quiroga","sequence":"additional","affiliation":[{"name":"Coordinaci\u00f3n de Ense\u00f1anza e Investigaci\u00f3n, Cl\u00ednica Hospital Instituto de Seguridad y Servicios Sociales de los Trabajadores del Estado, Huauchinango 73177, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georgina","family":"Victoria-Acosta","sequence":"additional","affiliation":[{"name":"Divisi\u00f3n de Investigaci\u00f3n, Hospital Ju\u00e1rez de M\u00e9xico, Ciudad de M\u00e9xico 11340, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adolfo","family":"L\u00f3pez-Ornelas","sequence":"additional","affiliation":[{"name":"Divisi\u00f3n de Investigaci\u00f3n, Hospital Ju\u00e1rez de M\u00e9xico, Ciudad de M\u00e9xico 11340, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan Carlos","family":"Serrano-Bello","sequence":"additional","affiliation":[{"name":"Departamento de Patolog\u00eda Cl\u00ednica y Experimental, Hospital Infantil de M\u00e9xico Federico G\u00f3mez, Ciudad de M\u00e9xico 06720, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1719-066X","authenticated-orcid":false,"given":"Mar\u00eda Guadalupe","family":"Olgu\u00edn-Garc\u00eda","sequence":"additional","affiliation":[{"name":"Centro Dermatol\u00f3gico \u201cDr. Ladislao de la Pascua\u201d, Ciudad de M\u00e9xico 06780, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen","family":"Palacios-Reyes","sequence":"additional","affiliation":[{"name":"Divisi\u00f3n de Investigaci\u00f3n, Hospital Ju\u00e1rez de M\u00e9xico, Ciudad de M\u00e9xico 11340, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,5,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1016\/j.ejmg.2014.07.001","article-title":"Raine syndrome: An overview","volume":"57","author":"Faundes","year":"2014","journal-title":"Eur. J. Med. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Sheth, J., Bhavsar, R., Gandhi, A., Sheth, F., and Pancholi, D. (2018). A case of Raine syndrome presenting with facial dysmorphy and review of literature. BMC Med. Genet., 19.","DOI":"10.1186\/s12881-018-0593-x"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1086\/522240","article-title":"Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development","volume":"81","author":"Simpson","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1517\/14728222.2016.1091883","article-title":"Casein kinases as potential therapeutic targets","volume":"20","author":"Cozza","year":"2016","journal-title":"Expert Opin. Ther. Targets"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1550","DOI":"10.1182\/blood.V96.4.1550","article-title":"Sequential phosphorylation of protein band 3 by Syk and Lyn tyrosine kinases in intact human erythrocytes: Identification of primary and secondary phosphorylation sites","volume":"96","author":"Brunati","year":"2000","journal-title":"Blood"},{"key":"ref_6","doi-asserted-by":"crossref","unstructured":"Palma-Lara, I., Perez-Ramirez, M., Garcia Alonso-Themann, P., Espinosa-Garcia, A.M., Godinez-Aguilar, R., Bonilla-Delgado, J., Lopez-Ornelas, A., Victoria-Acosta, G., Olguin-Garcia, M.G., and Moreno, J. (2021). FAM20C Overview: Classic and Novel Targets, Pathogenic Variants and Raine Syndrome Phenotypes. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms22158039"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1150","DOI":"10.1126\/science.1217817","article-title":"Secreted kinase phosphorylates extracellular proteins that regulate biomineralization","volume":"336","author":"Tagliabracci","year":"2012","journal-title":"Science"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"3476","DOI":"10.1002\/jcp.26200","article-title":"FAM20C regulates osteoblast behaviors and intracellular signaling pathways in a cell-autonomous manner","volume":"233","author":"Liu","year":"2018","journal-title":"J. Cell. Physiol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1619","DOI":"10.1016\/j.cell.2015.05.028","article-title":"A Single Kinase Generates the Majority of the Secreted Phosphoproteome","volume":"161","author":"Tagliabracci","year":"2015","journal-title":"Cell"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/ajmg.a.36187","article-title":"Enamel-renal-gingival syndrome and FAM20A mutations","volume":"164","author":"Kantaputra","year":"2014","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1007\/s00198-018-4667-6","article-title":"A novel FAM20C mutation causing hypophosphatemic osteomalacia with osteosclerosis (mild Raine syndrome) in an elderly man with spontaneous osteonecrosis of the knee","volume":"30","author":"Rolvien","year":"2019","journal-title":"Osteoporos. Int."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1042\/BJ20090474","article-title":"FAM20B is a kinase that phosphorylates xylose in the glycosaminoglycan-protein linkage region","volume":"421","author":"Koike","year":"2009","journal-title":"Biochem. J."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"3008","DOI":"10.1111\/febs.14984","article-title":"Bone and connective tissue disorders caused by defects in glycosaminoglycan biosynthesis: A panoramic view","volume":"286","author":"Paganini","year":"2019","journal-title":"FEBS J."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"15723","DOI":"10.1073\/pnas.1417993111","article-title":"Xylose phosphorylation functions as a molecular switch to regulate proteoglycan biosynthesis","volume":"111","author":"Wen","year":"2014","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1111\/cge.13530","article-title":"A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia","volume":"95","author":"Kuroda","year":"2019","journal-title":"Clin. Genet."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1530\/JOE-12-0143","article-title":"The importance of the SIBLING family of proteins on skeletal mineralisation and bone remodelling","volume":"214","author":"Staines","year":"2012","journal-title":"J. Endocrinol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1687","DOI":"10.1016\/j.bbapap.2015.03.015","article-title":"The secretory pathway kinases","volume":"1854","author":"Sreelatha","year":"2015","journal-title":"Biochim. Biophys. Acta"},{"key":"ref_18","first-page":"3304","article-title":"Raine Syndrome: A rare case presentation","volume":"4","author":"Das","year":"2017","journal-title":"J. Med. Sci. Clin. Invent."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1002\/ajmg.1320430522","article-title":"New distinct lethal osteosclerotic bone dysplasia (Raine syndrome)","volume":"43","author":"Kan","year":"1992","journal-title":"Am. J. Med Genet."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1007\/s002470050473","article-title":"Intracranial calcification in Raine syndrome: Radiological pathological correlation","volume":"28","author":"McDonald","year":"1998","journal-title":"Pediatr. Radiol."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"3280","DOI":"10.1002\/ajmg.a.32022","article-title":"Raine syndrome: A rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings","volume":"143A","author":"Chitayat","year":"2007","journal-title":"Am. J. Med Genet. Part A"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"3155","DOI":"10.1002\/ajmg.a.36160","article-title":"Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome","volume":"161","author":"Ababneh","year":"2013","journal-title":"Am. J. Med Genet. Part A"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1002\/jbmr.3034","article-title":"Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660)","volume":"32","author":"Whyte","year":"2016","journal-title":"J. Bone Miner. Res."},{"key":"ref_24","doi-asserted-by":"crossref","unstructured":"Hern\u00e1ndez-Zavala, A., Cort\u00e9s-Camacho, F., Palma-Lara, I., God\u00ednez-Aguilar, R., Espinosa, A.M., P\u00e9rez-Dur\u00e1n, J., Villanueva-Ocampo, P., Ugarte-Briones, C., Serrano-Bello, C.A., and S\u00e1nchez-Santiago, P.J. (2020). Two Novel FAM20C Variants in a Family with Raine Syndrome. Genes, 11.","DOI":"10.3390\/genes11020222"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"2394","DOI":"10.1002\/ajmg.a.37159","article-title":"Report of a case of Raine syndrome and literature review","volume":"167","author":"Seidahmed","year":"2015","journal-title":"Am. J. Med Genet. Part A"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"1866","DOI":"10.1002\/ajmg.a.61291","article-title":"A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome","volume":"179","author":"Hung","year":"2019","journal-title":"Am. J. Med Genet. Part A"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"1578","DOI":"10.1002\/pd.5818","article-title":"Raine syndrome: Prenatal diagnosis based on recognizable fetal facial features and characteristic intracranial calcification","volume":"40","author":"Aboulghar","year":"2020","journal-title":"Prenat. Diagn."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s12887-021-02582-7","article-title":"Recurrent variant c.1680C > A in FAM20C gene and genotype-phenotype correlation in a patient with Raine syndrome: A case report","volume":"21","author":"Bajaj","year":"2021","journal-title":"BMC Pediatr."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1111\/j.1399-0004.2008.01118.x","article-title":"Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia","volume":"75","author":"Simpson","year":"2009","journal-title":"Clin. Genet."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"1378","DOI":"10.1002\/jbmr.1850","article-title":"Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification","volume":"28","author":"Rafaelsen","year":"2013","journal-title":"J. Bone Miner. Res."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s12881-015-0154-5","article-title":"Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations","volume":"16","author":"Acevedo","year":"2015","journal-title":"BMC Med Genet."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1016\/j.ejmg.2016.09.018","article-title":"Non lethal Raine syndrome and differential diagnosis","volume":"59","author":"Elalaoui","year":"2016","journal-title":"Eur. J. Med Genet."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"682","DOI":"10.1002\/ajmg.a.38598","article-title":"Fetal ultrasonographic findings including cerebral hyperechogenicity in a patient with non-lethal form of Raine syndrome","volume":"176","author":"Tamai","year":"2018","journal-title":"Am. J. Med Genet. Part A"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13023-020-01373-0","article-title":"Natural history of non-lethal Raine syndrome during childhood","volume":"15","author":"Mameli","year":"2020","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1007\/s00223-020-00694-3","article-title":"A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age","volume":"107","author":"Eltan","year":"2020","journal-title":"Calcif. Tissue Int."},{"key":"ref_36","first-page":"1","article-title":"Hypophosphataemic Rickets Secondary to Raine Syndrome: A Review of the Literature and Case Reports of Three Paediatric Patients\u2019 Dental Management","volume":"2021","author":"Hirst","year":"2021","journal-title":"Case Rep. Pediatr."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1002\/pro.3978","article-title":"The BioGRID database: A comprehensive biomedical resource of curated protein, genetic, and chemical interactions","volume":"30","author":"Oughtred","year":"2021","journal-title":"Protein Sci."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"2108","DOI":"10.1039\/C6MB00111D","article-title":"Systematic network-based discovery of a Fam20C inhibitor (FL-1607) with apoptosis modulation in triple-negative breast cancer","volume":"12","author":"Qin","year":"2016","journal-title":"Mol. Biosyst."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s40748-021-00136-4","article-title":"CNS Malformations in the Newborn","volume":"8","author":"Baranano","year":"2022","journal-title":"Matern. Health Neonatol. Perinatol."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1055\/s-0031-1279787","article-title":"Genetic assessment of cortical malformations","volume":"42","author":"Hehr","year":"2011","journal-title":"Neuropediatrics"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"1348","DOI":"10.1093\/brain\/aws019","article-title":"A developmental and genetic classification for malformations of cortical development: Update 2012","volume":"135","author":"Barkovich","year":"2012","journal-title":"Brain"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"1503","DOI":"10.1002\/ajmg.a.36517","article-title":"The Developmental Brain Disorders Database (DBDB): A curated neurogenetics knowledge base with clinical and research applications","volume":"164","author":"Mirzaa","year":"2014","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1038\/ejhg.2013.196","article-title":"Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation","volume":"22","author":"Paciorkowski","year":"2014","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"9892","DOI":"10.1073\/pnas.1610078113","article-title":"Secondary expansion of the transient subplate zone in the developing cerebrum of human and nonhuman primates","volume":"113","author":"Duque","year":"2016","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"e1501733","DOI":"10.1126\/sciadv.1501733","article-title":"Bidirectional radial Ca2+ activity regulates neurogenesis and migration during early cortical column formation","volume":"2","author":"Rash","year":"2016","journal-title":"Sci. Adv."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1038\/ng1993","article-title":"Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis","volume":"39","author":"Baala","year":"2007","journal-title":"Nat. Genet."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1016\/j.neuron.2015.12.008","article-title":"The Cellular and Molecular Landscapes of the Developing Human Central Nervous System","volume":"89","author":"Silbereis","year":"2016","journal-title":"Neuron"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1038\/nature10524","article-title":"Temporal dynamics and genetic control of transcription in the human prefrontal cortex","volume":"478","author":"Colantuoni","year":"2011","journal-title":"Nature"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1038\/nature10523","article-title":"Spatio-temporal transcriptome of the human brain","volume":"478","author":"Kang","year":"2011","journal-title":"Nature"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/j.conb.2015.11.002","article-title":"Postmortem human brain genomics in neuropsychiatric disorders\u2014How far can we go?","volume":"36","author":"Jaffe","year":"2016","journal-title":"Curr. Opin. Neurobiol."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1016\/j.neuron.2013.11.018","article-title":"Temporal specification and bilaterality of human neocortical topographic gene expression","volume":"81","author":"Pletikos","year":"2014","journal-title":"Neuron"},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"1465","DOI":"10.1126\/science.aaa1975","article-title":"Human-specific gene ARHGAP11B promotes basal progenitor amplification and neocortex expansion","volume":"347","author":"Florio","year":"2015","journal-title":"Science"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"1586","DOI":"10.1126\/science.aaf1204","article-title":"Neuronal subtypes and diversity revealed by single-nucleus RNA sequencing of the human brain","volume":"352","author":"Lake","year":"2016","journal-title":"Science"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"1318","DOI":"10.1126\/science.aap8809","article-title":"Spatiotemporal gene expression trajectories reveal developmental hierarchies of the human cortex","volume":"358","author":"Nowakowski","year":"2017","journal-title":"Science"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"2576","DOI":"10.1016\/j.celrep.2016.08.038","article-title":"Zika Virus Disrupts Phospho-TBK1 Localization and Mitosis in Human Neuroepithelial Stem Cells and Radial Glia","volume":"16","author":"Onorati","year":"2016","journal-title":"Cell Rep."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.cell.2015.09.004","article-title":"Molecular identity of human outer radial glia during cortical development","volume":"163","author":"Pollen","year":"2015","journal-title":"Cell"},{"key":"ref_57","doi-asserted-by":"crossref","unstructured":"Van Essen, M.J., Nayler, S., Becker, E.B.E., and Jacob, J. (2020). Deconstructing cerebellar development cell by cell. PLoS Genet., 16.","DOI":"10.1371\/journal.pgen.1008630"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"1025","DOI":"10.1007\/s00415-003-0199-9","article-title":"Development and developmental disorders of the human cerebellum","volume":"250","author":"Lammens","year":"2003","journal-title":"J. Neurol."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1097\/RLU.0000000000001601","article-title":"131I-MIBG Therapy in a Metastatic Small Bowel Neuroendocrine Tumor Patient Undergoing Hemodialysis","volume":"42","author":"Rahimi","year":"2017","journal-title":"Clin. Nucl. Med."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"646052","DOI":"10.3389\/fnsys.2021.646052","article-title":"A Focus on the Cerebellum: From Embryogenesis to an Age-Related Clinical Perspective","volume":"15","author":"Amore","year":"2021","journal-title":"Front. Syst. Neurosci."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.neulet.2018.07.005","article-title":"The cerebellum and cognition","volume":"688","author":"Schmahmann","year":"2019","journal-title":"Neurosci. Lett."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/B978-0-444-63956-1.00004-7","article-title":"Functional topography of the human cerebellum","volume":"154","author":"Stoodley","year":"2018","journal-title":"Handb. Clin. Neurol."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1007\/s12311-015-0687-3","article-title":"Consensus Paper: Revisiting the Symptoms and Signs of Cerebellar Syndrome","volume":"15","author":"Bodranghien","year":"2016","journal-title":"Cerebellum"},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"586","DOI":"10.1177\/0883073819847925","article-title":"Neurologic Examination Findings Associated With Small Cerebellar Volumes After Prematurity","volume":"34","author":"Tam","year":"2019","journal-title":"J. Child Neurol."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/j.neuroscience.2006.11.028","article-title":"Relationships between locomotor activation and alterations in brain temperature during selective blockade and stimulation of dopamine transmission","volume":"145","author":"Brown","year":"2007","journal-title":"Neuroscience"},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/j.earlhumdev.2017.10.004","article-title":"Neurodevelopmental outcome in prenatally diagnosed isolated agenesis of the corpus callosum","volume":"116","author":"Chadie","year":"2018","journal-title":"Early Hum. Dev."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"1579","DOI":"10.1093\/brain\/awt358","article-title":"Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes","volume":"137","author":"Edwards","year":"2014","journal-title":"Brain"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1007\/s00428-015-1872-y","article-title":"Agenesis of the corpus callosum. An autopsy study in fetuses","volume":"468","author":"Kidron","year":"2016","journal-title":"Virchows Arch."},{"key":"ref_69","doi-asserted-by":"crossref","unstructured":"Hofman, J., Hutny, M., Sztuba, K., and Paprocka, J. (2020). Corpus Callosum Agenesis: An Insight into the Etiology and Spectrum of Symptoms. Brain Sci., 10.","DOI":"10.3390\/brainsci10090625"},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1111\/j.1651-2227.2008.00688.x","article-title":"Neurodevelopmental outcome in prenatally diagnosed isolated agenesis of the corpus callosum","volume":"97","author":"Chadie","year":"2008","journal-title":"Acta Paediatr."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"e20160445","DOI":"10.1542\/peds.2016-0445","article-title":"Outcomes Associated With Isolated Agenesis of the Corpus Callosum: A Meta-analysis","volume":"138","author":"Pagani","year":"2016","journal-title":"Pediatrics"},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1016\/j.ejpn.2017.08.003","article-title":"Outcome of isolated agenesis of the corpus callosum: A population-based prospective study","volume":"22","author":"Rolland","year":"2018","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"e8687","DOI":"10.1136\/bmj.e8687","article-title":"Developmental assessment of children","volume":"346","author":"Bellman","year":"2013","journal-title":"BMJ"},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1093\/pch\/pxy093","article-title":"Evaluation of the child with global developmental delay and intellectual disability","volume":"23","author":"Belanger","year":"2018","journal-title":"Paediatr. Child Health"},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"1921","DOI":"10.1056\/NEJMoa1206524","article-title":"Diagnostic exome sequencing in persons with severe intellectual disability","volume":"367","author":"Willemsen","year":"2012","journal-title":"N. Engl. J. Med."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1038\/nature10423","article-title":"Deep sequencing reveals 50 novel genes for recessive cognitive disorders","volume":"478","author":"Najmabadi","year":"2011","journal-title":"Nature"},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/j.celrep.2014.12.015","article-title":"Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families","volume":"10","author":"Alazami","year":"2015","journal-title":"Cell Rep."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"4634","DOI":"10.1016\/j.cell.2022.10.017","article-title":"The phenotypic landscape of essential human genes","volume":"185","author":"Funk","year":"2022","journal-title":"Cell"},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"111430","DOI":"10.1016\/j.ijporl.2022.111430","article-title":"Predictors of successful natural sleep MRI for sensorineural hearing loss in infants","volume":"165","author":"Liao","year":"2023","journal-title":"Int. J. Pediatr. Otorhinolaryngol."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1007\/s00439-016-1648-8","article-title":"Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss","volume":"135","author":"Bierer","year":"2016","journal-title":"Hum. Genet."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1097\/MOP.0000000000000410","article-title":"Navigating genetic diagnostics in patients with hearing loss","volume":"28","author":"Smith","year":"2016","journal-title":"Curr. Opin. Pediatr."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1016\/j.otc.2017.11.001","article-title":"Otosclerosis: Temporal Bone Pathology","volume":"51","author":"Quesnel","year":"2018","journal-title":"Otolaryngol. Clin. N. Am."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"1199","DOI":"10.1038\/s41436-018-0300-5","article-title":"Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis","volume":"21","author":"Schrauwen","year":"2019","journal-title":"Genet. Med."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"244","DOI":"10.3928\/00904481-20131122-08","article-title":"Initial evaluation and management of a first seizure in children","volume":"42","author":"Chelse","year":"2013","journal-title":"Pediatr. Ann."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1684\/epd.2015.0736","article-title":"Incidence, prevalence and aetiology of seizures and epilepsy in children","volume":"17","author":"Camfield","year":"2015","journal-title":"Epileptic. Disord."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1016\/j.jpeds.2008.04.057","article-title":"Postnatal sepsis, necrotizing entercolitis, and the critical role of systemic inflammation in white matter injury in premature infants","volume":"153","author":"Volpe","year":"2008","journal-title":"J. Pediatr."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"18024","DOI":"10.1038\/nrdp.2018.24","article-title":"Epilepsy","volume":"4","author":"Devinsky","year":"2018","journal-title":"Nat. Rev. Dis. Prim."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"2543","DOI":"10.1242\/dev.108712","article-title":"Amyloid precursor protein and neural development","volume":"141","author":"Nicolas","year":"2014","journal-title":"Development"},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"81","DOI":"10.3389\/fnins.2012.00081","article-title":"All in the Family: How the APPs Regulate Neurogenesis","volume":"6","author":"Lazarov","year":"2012","journal-title":"Front. Neurosci."},{"key":"ref_90","doi-asserted-by":"crossref","unstructured":"Essa, H., Peyton, L., Hasan, W., Leon, B.E., and Choi, D.S. (2022). Implication of Adult Hippocampal Neurogenesis in Alzheimer\u2019s Disease and Potential Therapeutic Approaches. Cells, 11.","DOI":"10.3390\/cells11020286"},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1002\/ana.24727","article-title":"Truncating mutations in APP cause a distinct neurological phenotype","volume":"80","author":"Klein","year":"2016","journal-title":"Ann. Neurol."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1002\/humu.23968","article-title":"Hermansky-Pudlak syndrome: Mutation update","volume":"41","author":"Huizing","year":"2020","journal-title":"Hum. Mutat."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1007\/s00276-021-02854-y","article-title":"A study of 285 cases of cranial vault suture closure in Chinese adults","volume":"44","author":"Li","year":"2022","journal-title":"Surg. Radiol. Anat."},{"key":"ref_94","doi-asserted-by":"crossref","unstructured":"Yang, S., Shen, X., Kang, Q., Kuang, X., Ning, Z., Liu, S., Liao, H., Cao, Z., and Yang, L. (2020). Clinical and Genetic Study on a Chinese Patient with Infantile Onset Epileptic Encephalopathy carrying a PPP3CA Null Variant: A case report. BMC Pediatr., 20.","DOI":"10.1186\/s12887-020-02213-7"},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1093\/cvr\/cvs213","article-title":"Na+\/K+-ATPase \u03b12-isoform preferentially modulates Ca2+ transients and sarcoplasmic reticulum Ca2+ release in cardiac myocytes","volume":"95","author":"Despa","year":"2012","journal-title":"Cardiovasc. Res."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1002\/glia.10328","article-title":"Na,K-ATPase alpha 2 inhibition alters calcium responses in optic nerve astrocytes","volume":"45","author":"Hartford","year":"2004","journal-title":"Glia"},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"1533","DOI":"10.1016\/j.biocel.2011.08.002","article-title":"Migraine: Role of the TRESK two-pore potassium channel","volume":"43","author":"Lafreniere","year":"2011","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"3367","DOI":"10.1093\/brain\/awz272","article-title":"A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants","volume":"142","author":"Chatron","year":"2019","journal-title":"Brain"},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1016\/j.nbd.2019.02.008","article-title":"Ubiquitylome profiling of Parkin-null brain reveals dysregulation of calcium homeostasis factors ATP1A2, Hippocalcin and GNA11, reflected by altered firing of noradrenergic neurons","volume":"127","author":"Key","year":"2019","journal-title":"Neurobiol. Dis."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1007\/s11068-007-9010-7","article-title":"Beta-amyloid enhances intracellular calcium rises mediated by repeated activation of intracellular calcium stores and nicotinic receptors in acutely dissociated rat basal forebrain neurons","volume":"35","author":"Chin","year":"2006","journal-title":"Brain Cell Biol."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"5317","DOI":"10.1074\/jbc.M211315200","article-title":"The Na,K-ATPase alpha 2 isoform is expressed in neurons, and its absence disrupts neuronal activity in newborn mice","volume":"278","author":"Moseley","year":"2003","journal-title":"J. Biol. Chem."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1152\/physrev.00014.2011","article-title":"Cadherins in brain morphogenesis and wiring","volume":"92","author":"Hirano","year":"2012","journal-title":"Physiol. Rev."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1177\/0883073819878917","article-title":"Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia","volume":"35","author":"Accogli","year":"2020","journal-title":"J. Child Neurol."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"6187","DOI":"10.1038\/s41467-021-26426-1","article-title":"CDH2 mutation affecting N-cadherin function causes attention-deficit hyperactivity disorder in humans and mice","volume":"12","author":"Halperin","year":"2021","journal-title":"Nat. Commun."},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1073\/pnas.1719523115","article-title":"Somatostatin and parvalbumin inhibitory synapses onto hippocampal pyramidal neurons are regulated by distinct mechanisms","volume":"115","author":"Horn","year":"2018","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"6323","DOI":"10.1523\/JNEUROSCI.0916-12.2012","article-title":"N-cadherin prodomain processing regulates synaptogenesis","volume":"32","author":"Reines","year":"2012","journal-title":"J. Neurosci."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"2615","DOI":"10.1093\/hmg\/11.21.2615","article-title":"The disintegrin\/metalloprotease ADAM 10 is essential for Notch signalling but not for alpha-secretase activity in fibroblasts","volume":"11","author":"Hartmann","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"4833","DOI":"10.1523\/JNEUROSCI.5221-09.2010","article-title":"The disintegrin\/metalloproteinase ADAM10 is essential for the establishment of the brain cortex","volume":"30","author":"Jorissen","year":"2010","journal-title":"J. Neurosci."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"12915","DOI":"10.1523\/JNEUROSCI.5910-12.2013","article-title":"Postnatal disruption of the disintegrin\/metalloproteinase ADAM10 in brain causes epileptic seizures, learning deficits, altered spine morphology, and defective synaptic functions","volume":"33","author":"Prox","year":"2013","journal-title":"J. Neurosci."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"56","DOI":"10.3389\/fnmol.2017.00056","article-title":"Regulation of Alpha-Secretase ADAM10 In vitro and In vivo: Genetic, Epigenetic, and Protein-Based Mechanisms","volume":"10","author":"Endres","year":"2017","journal-title":"Front. Mol. Neurosci."},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1007\/s11064-010-0260-x","article-title":"IGF-1 reduces BACE-1 expression in PC12 cells via activation of PI3-K\/Akt and MAPK\/ERK1\/2 signaling pathways","volume":"36","author":"Zhang","year":"2011","journal-title":"Neurochem. Res."},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1007\/s11010-015-2480-5","article-title":"PPAR-alpha agonist regulates amyloid-beta generation via inhibiting BACE-1 activity in human neuroblastoma SH-SY5Y cells transfected with APPswe gene","volume":"408","author":"Zhang","year":"2015","journal-title":"Mol. Cell. Biochem."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1186\/s12944-019-0965-z","article-title":"Role of cholesterol and sphingolipids in brain development and neurological diseases","volume":"18","author":"Hussain","year":"2019","journal-title":"Lipids Health Dis."},{"key":"ref_114","doi-asserted-by":"crossref","unstructured":"Elliott, D.A., Halliday, G.M., and Garner, B. (2010). Apolipoprotein-E forms dimers in human frontal cortex and hippocampus. BMC Neurosci., 11.","DOI":"10.1186\/1471-2202-11-23"},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"555","DOI":"10.2217\/clp.10.37","article-title":"Apolipoproteins in the brain: Implications for neurological and psychiatric disorders","volume":"51","author":"Elliott","year":"2010","journal-title":"Clin. Lipidol."},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"771214","DOI":"10.3389\/fnagi.2022.771214","article-title":"The Association Between Alzheimer\u2019s Disease-Related Markers and Physical Activity in Cognitively Normal Older Adults","volume":"14","author":"Pedrini","year":"2022","journal-title":"Front. Aging Neurosci."},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1111\/jnc.15681","article-title":"Plasma high-density lipoprotein cargo is altered in Alzheimer\u2019s disease and is associated with regional brain volume","volume":"163","author":"Pedrini","year":"2022","journal-title":"J. Neurochem."},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"13240","DOI":"10.1016\/S0021-9258(19)38290-0","article-title":"A 70-kDa apolipoprotein designated ApoJ is a marker for subclasses of human plasma high density lipoproteins","volume":"265","author":"Stuart","year":"1990","journal-title":"J. Biol. Chem."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/S0009-9120(02)00326-0","article-title":"Diagnostic implications of circulating oxidized low density lipoprotein levels as a biochemical risk marker of coronary artery disease","volume":"35","author":"Suzuki","year":"2002","journal-title":"Clin. Biochem."},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"e48255","DOI":"10.7554\/eLife.48255","article-title":"Brain clusterin protein isoforms and mitochondrial localization","volume":"8","author":"Herring","year":"2019","journal-title":"eLife"},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1016\/j.schres.2015.10.002","article-title":"Increased extracellular clusterin in the prefrontal cortex in schizophrenia","volume":"169","author":"Athanas","year":"2015","journal-title":"Schizophr. Res."},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"1452","DOI":"10.1038\/ng.2802","article-title":"Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer\u2019s disease","volume":"45","author":"Lambert","year":"2013","journal-title":"Nat. Genet."},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1016\/0022-510X(93)90230-V","article-title":"Elevation of human cerebrospinal fluid clusterin concentration is associated with acute neuropathology","volume":"115","author":"Polihronis","year":"1993","journal-title":"J. Neurol. Sci"},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"1375","DOI":"10.1042\/BST20201092","article-title":"Leucine-rich repeat kinase 2-related functions in GLIA: An update of the last years","volume":"49","author":"Filippini","year":"2021","journal-title":"Biochem. Soc. Trans."},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1002\/glia.23920","article-title":"Extracellular clusterin limits the uptake of alpha-synuclein fibrils by murine and human astrocytes","volume":"69","author":"Filippini","year":"2021","journal-title":"Glia"},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1038\/cdd.2010.169","article-title":"Clusterin secreted by astrocytes enhances neuronal differentiation from human neural precursor cells","volume":"18","author":"Scott","year":"2011","journal-title":"Cell Death Differ."},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1002\/cne.903340205","article-title":"Localization of sulfated glycoprotein-2\/clusterin mRNA in the rat brain by in situ hybridization","volume":"334","author":"Danik","year":"1993","journal-title":"J. Comp. Neurol."},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"637","DOI":"10.3892\/ijmm.2015.2075","article-title":"Exposure to acoustic stimuli promotes the development and differentiation of neural stem cells from the cochlear nuclei through the clusterin pathway","volume":"35","author":"Xue","year":"2015","journal-title":"Int. J. Mol. Med."},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"e2100287","DOI":"10.1002\/bies.202100287","article-title":"The chaperone Clusterin in neurodegeneration-friend or foe?","volume":"44","author":"Bracher","year":"2022","journal-title":"Bioessays"},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"1088","DOI":"10.1038\/ng.440","article-title":"Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer\u2019s disease","volume":"41","author":"Harold","year":"2009","journal-title":"Nat. Genet."},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.3233\/JAD-160307","article-title":"Human ApoE varepsilon2 Promotes Regulatory Mechanisms of Bioenergetic and Synaptic Function in Female Brain: A Focus on V-type H+-ATPase","volume":"53","author":"Woody","year":"2016","journal-title":"J. Alzheimer\u2019s Dis."},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"fcz003","DOI":"10.1093\/braincomms\/fcz003","article-title":"Clusterin accumulates in synapses in Alzheimer\u2019s disease and is increased in apolipoprotein E4 carriers","volume":"1","author":"Jackson","year":"2019","journal-title":"Brain Commun."},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"e010217","DOI":"10.1161\/CIRCEP.121.010217","article-title":"Relationship Between Electrical and Mechanical Dyssynchrony and Outcomes Among Patients Undergoing Cardiac Resynchronization Therapy","volume":"14","author":"Friedman","year":"2021","journal-title":"Circ. Arrhythm. Electrophysiol."},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"105813","DOI":"10.1016\/j.nbd.2022.105813","article-title":"Apolipoprotein L1 is increased in frontotemporal lobar degeneration post-mortem brain but not in ante-mortem cerebrospinal fluid","volume":"172","author":"Hok","year":"2022","journal-title":"Neurobiol. Dis."},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"4680","DOI":"10.1073\/pnas.032069099","article-title":"Gene expression analysis in schizophrenia: Reproducible up-regulation of several members of the apolipoprotein L family located in a high-susceptibility locus for schizophrenia on chromosome 22","volume":"99","author":"Mimmack","year":"2002","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"847","DOI":"10.3389\/fnins.2018.00847","article-title":"Altered High Density Lipoprotein Composition in Behavioral Variant Frontotemporal Dementia","volume":"12","author":"Kim","year":"2018","journal-title":"Front. Neurosci."},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1038\/s41586-022-05439-w","article-title":"APOE4 impairs myelination via cholesterol dysregulation in oligodendrocytes","volume":"611","author":"Blanchard","year":"2022","journal-title":"Nature"},{"key":"ref_138","first-page":"739","article-title":"ApoE4-Induced Cholesterol Dysregulation and Its Brain Cell Type-Specific Implications in the Pathogenesis of Alzheimer\u2019s Disease","volume":"42","author":"Jeong","year":"2019","journal-title":"Mol. Cells"},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"630502","DOI":"10.3389\/fnins.2021.630502","article-title":"APOE and Alzheimer\u2019s Disease: From Lipid Transport to Physiopathology and Therapeutics","volume":"15","author":"Husain","year":"2021","journal-title":"Front. Neurosci."},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"774291","DOI":"10.3389\/fcell.2022.774291","article-title":"Cholesterol and Hedgehog Signaling: Mutual Regulation and Beyond","volume":"10","author":"Xu","year":"2022","journal-title":"Front. Cell Dev. Biol."},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"eaay5947","DOI":"10.1126\/science.aay5947","article-title":"An atlas of the protein-coding genes in the human, pig, and mouse brain","volume":"367","author":"Sjostedt","year":"2020","journal-title":"Science"},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/j.neuron.2015.11.013","article-title":"Purification and Characterization of Progenitor and Mature Human Astrocytes Reveals Transcriptional and Functional Differences with Mouse","volume":"89","author":"Zhang","year":"2016","journal-title":"Neuron"},{"key":"ref_143","doi-asserted-by":"crossref","unstructured":"Eden, E., Navon, R., Steinfeld, I., Lipson, D., and Yakhini, Z. (2009). GOrilla: A tool for discovery and visualization of enriched GO terms in ranked gene lists. BMC Bioinform., 10.","DOI":"10.1186\/1471-2105-10-48"},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1007\/978-1-60761-175-2_7","article-title":"PANTHER pathway: An ontology-based pathway database coupled with data analysis tools","volume":"563","author":"Mi","year":"2009","journal-title":"Methods Mol. Biol."},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"2960","DOI":"10.1016\/j.csbj.2021.05.015","article-title":"The DisGeNET cytoscape app: Exploring and visualizing disease genomics data","volume":"19","author":"Pinero","year":"2021","journal-title":"Comput. Struct. Biotechnol. J."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/24\/10\/8904\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T19:36:59Z","timestamp":1760125019000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/24\/10\/8904"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,17]]},"references-count":145,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2023,5]]}},"alternative-id":["ijms24108904"],"URL":"https:\/\/doi.org\/10.3390\/ijms24108904","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,5,17]]}}}