{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T20:52:16Z","timestamp":1790542336520,"version":"4.1.0"},"reference-count":33,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2020,6,13]],"date-time":"2020-06-13T00:00:00Z","timestamp":1592006400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2020,6,13]],"date-time":"2020-06-13T00:00:00Z","timestamp":1592006400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Mol Neurosci"],"published-print":{"date-parts":[[2020,12]]},"DOI":"10.1007\/s12031-020-01614-8","type":"journal-article","created":{"date-parts":[[2020,6,13]],"date-time":"2020-06-13T04:02:33Z","timestamp":1592020953000},"page":"2077-2084","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["The New CIC Mutation Associates with Mental Retardation and Severity of Seizure in Turkish Child with a Rare Class I Glucose-6-Phosphate Dehydrogenase Deficiency"],"prefix":"10.1007","volume":"70","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6243-2146","authenticated-orcid":false,"given":"Meryem","family":"Alagoz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nasim","family":"Kherad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ezgi","family":"Gunger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Selin","family":"Kaymaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adnan","family":"Yuksel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,6,13]]},"reference":[{"key":"1614_CR1","first-page":"1","volume":"25","author":"C Altay","year":"2008","unstructured":"Altay C, G\u00fcmr\u00fck F (2008) Red cell glucose-6-phosphate dehydrogenase deficiency in Turkey. Turk J Hematol 25:1\u20137","journal-title":"Turk J Hematol"},{"key":"1614_CR2","doi-asserted-by":"publisher","first-page":"580","DOI":"10.1007\/s12031-019-01386-w","volume":"69","author":"LGL Ant\u00f4nio","year":"2019","unstructured":"Ant\u00f4nio LGL, Freitas-Lima P, Pereira-da-Silva G, Assirati JA, Matias CM, Cirino MLA et al (2019) Expression of microRNAs miR-145, miR-181c, miR-199a and miR-1183 in the blood and hippocampus of patients with mesial temporal lobe epilepsy. J Mol Neurosci 69:580\u2013587","journal-title":"J Mol Neurosci"},{"issue":"3","key":"1614_CR3","doi-asserted-by":"publisher","first-page":"668","DOI":"10.1038\/sj.emboj.7601532","volume":"26","author":"S Astigarraga","year":"2007","unstructured":"Astigarraga S, Grossman R, D\u00edaz-Delf\u00edn J, Caelles C, Paroush Z, Jim\u00e9nez G (2007) A MAPK docking site is critical for downregulation of Capicua by torso and EGFR RTK signalling. EMBO J 26(3):668\u2013677. https:\/\/doi.org\/10.1038\/sj.emboj.7601532","journal-title":"EMBO J"},{"issue":"3","key":"1614_CR4","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1016\/S0969-2126(00)00104-0","volume":"8","author":"SW Au","year":"2000","unstructured":"Au SW, Gover S, Lam VM, Adams MJ (2000) Human glucose-6- phosphate dehydrogenase: the crystal structure reveals a structural NADP (+) molecule and provides insights into enzyme deficiency. Structure 8(3):293\u2013303","journal-title":"Structure"},{"key":"1614_CR5","volume-title":"Biochemistry","author":"JM Berg","year":"2002","unstructured":"Berg JM, Tymoczko JL, Stryer L (2002) Biochemistry, 5th edn. W. H. Freeman and Co, New York","edition":"5"},{"issue":"6048","key":"1614_CR6","doi-asserted-by":"publisher","first-page":"1453","DOI":"10.1126\/science.1210557","volume":"333","author":"C Bettegowda","year":"2011","unstructured":"Bettegowda C, Agrawal N, Jiao Y, Sausen M, Wood LD, Hruban RH, Rodriguez FJ, Cahill DP, McLendon R, Riggins G, Velculescu VE, Oba-Shinjo SM, Marie SK, Vogelstein B, Bigner D, Yan H, Papadopoulos N, Kinzler KW (2011) Mutations in CIC and FUBP1 contribute to human oligodendroglioma. Science. 333(6048):1453\u20131455","journal-title":"Science."},{"key":"1614_CR7","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4684-2457-7","volume-title":"Haemolytic anaemia in disorders of red cell metabolism (topics in haematology)","author":"E Beutler","year":"1978","unstructured":"Beutler E (1978) Haemolytic anaemia in disorders of red cell metabolism (topics in haematology). Plenum Medical, New York, London"},{"key":"1614_CR8","doi-asserted-by":"publisher","first-page":"916","DOI":"10.1007\/s12031-020-01519-6","volume":"70","author":"RD Castro-Torres","year":"2020","unstructured":"Castro-Torres RD, Ure\u00f1a-Guerrero ME, Morales-Chac\u00f3n LM, Lorigados-Pedre L, Estupi\u00f1an-D\u00edaz B, Rocha L, Orozco-Su\u00e1rez S, Rivera-Cervantes MC, Alonso-Vanegas M, Beas-Z\u00e1rate C (2020) New aspects of VEGF, GABA, and glutamate signaling in the neocortex of human temporal lobe pharmacoresistant epilepsy revealed by RT-qPCR arrays. J Mol Neurosci 70:916\u2013929","journal-title":"J Mol Neurosci"},{"issue":"17","key":"1614_CR9","doi-asserted-by":"publisher","first-page":"7960","DOI":"10.18632\/oncotarget.2401","volume":"5","author":"S Chittaranjan","year":"2014","unstructured":"Chittaranjan S, Chan S, Yang C, Yang KC, Chen V, Moradian A, Firme M, Song J, Go NE, Blough MD, Chan JA, Cairncross JG, Gorski SM, Morin GB, Yip S, Marra MA (2014) Mutations in CIC and IDH1 cooperatively regulate 2-hydroxyglutarate levels and cell clonogenicity. Oncotarget. 5(17):7960\u20137979","journal-title":"Oncotarget."},{"key":"1614_CR10","doi-asserted-by":"publisher","first-page":"617","DOI":"10.1007\/s12031-018-1204-1","volume":"66","author":"E Dardiotis","year":"2018","unstructured":"Dardiotis E, Aloizou A-M, Siokas V, Patrinos GP, Deretzi G, Mitsias P, Aschner M, Tsatsakis A (2018) The role of microRNAs in patients with amyotrophic lateral sclerosis. J Mol Neurosci 66:617\u2013628. https:\/\/doi.org\/10.1007\/s12031-018-1204-1","journal-title":"J Mol Neurosci"},{"key":"1614_CR11","doi-asserted-by":"publisher","first-page":"146","DOI":"10.1186\/1752-1947-2-146","volume":"2","author":"GC de Gurrola","year":"2008","unstructured":"de Gurrola GC, Ara\u00faz JJ, Dur\u00e1n E, Aguilar-Medina M, Ramos-Pay\u00e1n R, Garc\u00eda-Magallanes N, Pacheco GV, Meraz EA (2008) Kernicterus by glucose-6-phosphate dehydrogenase deficiency: a case report and review of the literature. J Med Case Rep 2:146","journal-title":"J Med Case Rep"},{"issue":"8","key":"1614_CR12","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1038\/s12276-018-0087-0","volume":"50","author":"BS Gloss","year":"2018","unstructured":"Gloss BS, Dinger ME (2018) Realising the significance of noncoding functionality in clinical genomics. Exp Mol Med 50(8):97. https:\/\/doi.org\/10.1038\/s12276-018-0087-0","journal-title":"Exp Mol Med"},{"issue":"12","key":"1614_CR13","doi-asserted-by":"publisher","first-page":"28657","DOI":"10.3390\/ijms161226124","volume":"16","author":"S G\u00f3mez-Manzo","year":"2015","unstructured":"G\u00f3mez-Manzo S, Marcial-Quino J, Vanoye-Carlo A, Enr\u00edquez-Flores S, De la Mora-De la Mora I, Gonz\u00e1lez-Valdez A, Garc\u00eda-Torres I, Mart\u00ednez-Rosas V, Sierra-Palacios E, Lazcano-P\u00e9rez F, Rodr\u00edguez-Bustamante E, Arreguin-Espinosa R (2015) Mutations of glucose-6-phosphate dehydrogenase Durham, Santa-Maria and A+ variants are associated with loss functional and structural stability of the protein. Int J Mol Sci 16(12):28657\u201328668","journal-title":"Int J Mol Sci"},{"issue":"12","key":"1614_CR14","doi-asserted-by":"publisher","first-page":"2069","DOI":"10.3390\/ijms17122069","volume":"17","author":"S G\u00f3mez-Manzo","year":"2016","unstructured":"G\u00f3mez-Manzo S, Marcial-Quino J, Vanoye-Carlo A et al (2016) Glucose-6-phosphate dehydrogenase: update and analysis of new mutations around the world. Int J Mol Sci 17(12):2069 Published 2016 Dec 9","journal-title":"Int J Mol Sci"},{"key":"1614_CR15","first-page":"32","volume":"1","author":"M Kaplan","year":"2000","unstructured":"Kaplan M, Hammerman C (2000) Glucose-6-phosphate dehydrogenase deficiency: a worldwide potential cause of severe neonatal hyperbilirubinemia. Neo Rev 1:32\u201338","journal-title":"Neo Rev"},{"key":"1614_CR16","doi-asserted-by":"publisher","DOI":"10.1007\/s12031-020-01530-x","volume-title":"Whole exome sequencing identifies a novel homozygous duplication mutation in the VPS13B gene in an Indian family with Cohen syndrome","author":"P Kaushik","year":"2020","unstructured":"Kaushik, P., Mahajan, N., Girimaji, S. C., & Kumar, A. (2020). Whole exome sequencing identifies a novel homozygous duplication mutation in the VPS13B gene in an Indian family with Cohen syndrome"},{"issue":"5","key":"1614_CR17","doi-asserted-by":"publisher","first-page":"758","DOI":"10.1002\/pbc.22390","volume":"54","author":"U Kordes","year":"2010","unstructured":"Kordes U, Richter A, Santer R, Sch\u00e4fer H, Singer D, Sonntag J, Steuerwald U, Schneppenheim R, Janka G (2010) Neonatal cholestasis and glucose-6-P-dehydrogenase deficiency. Pediatr Blood Cancer 54(5):758\u2013760","journal-title":"Pediatr Blood Cancer"},{"issue":"7","key":"1614_CR18","doi-asserted-by":"publisher","first-page":"1335","DOI":"10.1016\/j.cell.2006.11.038","volume":"127","author":"YC Lam","year":"2006","unstructured":"Lam YC, Bowman AB, Jafar-Nejad P, Lim J, Richman R, Fryer JD, Hyun ED, Duvick LA, Orr HT, Botas J, Zoghbi HY (2006) ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology. Cell. 127(7):1335\u20131347","journal-title":"Cell."},{"key":"1614_CR19","doi-asserted-by":"publisher","first-page":"168","DOI":"10.1016\/B978-0-12-375154-6.00007-0","volume-title":"Manual of pediatric hematology and oncology","author":"P Lanzkowsky","year":"2011","unstructured":"Lanzkowsky P (2011) Manual of pediatric hematology and oncology, 5th edn. Elsevier, New York, pp 168\u2013199","edition":"5"},{"issue":"1\u20132","key":"1614_CR20","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1016\/S0169-328X(02)00439-4","volume":"106","author":"C-J Lee","year":"2002","unstructured":"Lee C-J, Chan W-I, Cheung M, Cheng Y-C, Appleby VJ, Orme AT, Scotting PJ (2002) CIC, a member of a novel subfamily of the HMG-box superfamily, is transiently expressed in developing granule neurons. Brain Res Mol Brain Res 106(1\u20132):151\u2013156","journal-title":"Brain Res Mol Brain Res"},{"key":"1614_CR21","doi-asserted-by":"publisher","first-page":"469","DOI":"10.1111\/bjh.12665","volume":"164","author":"L Luzzatto","year":"2014","unstructured":"Luzzatto L, Seneca E (2014) G6PD deficiency: a classic example of pharmacogenetics with on-going clinical implications. Br J Hematol 164:469\u2013480","journal-title":"Br J Hematol"},{"issue":"6","key":"1614_CR22","doi-asserted-by":"publisher","first-page":"816","DOI":"10.1002\/pbc.21715","volume":"51","author":"J McDade","year":"2008","unstructured":"McDade J, Abramova T, Mortier N, Howard T, Ware RE (2008) A novel G6PD mutation leading to chronic hemolytic anaemia. Pediatr Blood Cancer 51(6):816\u2013819","journal-title":"Pediatr Blood Cancer"},{"key":"1614_CR23","doi-asserted-by":"publisher","first-page":"1605","DOI":"10.3923\/pjbs.2006.1605.1616","volume":"9","author":"MM Mohamed","year":"2006","unstructured":"Mohamed MM, El-Humiany AU-R (2006) Molecular characterization of new variants of Glucose-6-phosphate dehydrogenase deficiency gene isolated in western province of Saudi Arabia causing hemolytic anemia. Pak J Biol Sci 9:1605\u20131616","journal-title":"Pak J Biol Sci"},{"issue":"6","key":"1614_CR24","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0099439","volume":"9","author":"I Panagopoulos","year":"2014","unstructured":"Panagopoulos I, Gorunova L, Bjerkehagen B, Heim S (2014) The \u201cgrep\u201d command but not FusionMap, FusionFinder or ChimeraScan captures the CIC-DUX4 fusion gene from whole transcriptome sequencing data on a small round cell tumor with t(4;19)(q35;q13). PLoS One 9(6):e99439","journal-title":"PLoS One"},{"key":"1614_CR25","doi-asserted-by":"publisher","first-page":"5209","DOI":"10.1002\/j.1460-2075.1995.tb00205.x","volume":"14","author":"PP Pandolfi","year":"1995","unstructured":"Pandolfi PP, Sonati F, Rivi R, Mason P, Grosveld F, Luzzatto L (1995) Targeted disruption of the housekeeping gene encoding glucose 6-phosphate dehydrogenase (G6PD): G6PD is dispensable for pentose synthesis but essential for defence against oxidative stress. EMBO J 14:5209\u20135215","journal-title":"EMBO J"},{"issue":"11","key":"1614_CR26","doi-asserted-by":"publisher","first-page":"1571","DOI":"10.1097\/PAS.0000000000000286","volume":"8","author":"S Sugita","year":"2014","unstructured":"Sugita S, Arai Y, Tonooka A, Hama N, Totoki Y, Fujii T, Aoyama T, Asanuma H, Tsukahara T, Kaya M, Shibata T, Hasegawa T (2014) A novel CIC-FOXO4 gene fusion in undifferentiated small round cell sarcoma: a genetically distinct variant of Ewing-like sarcoma. Am J Surg Pathol 8(11):1571\u20131576","journal-title":"Am J Surg Pathol"},{"key":"1614_CR27","doi-asserted-by":"publisher","first-page":"4157","DOI":"10.1073\/pnas.83.12.4157","volume":"83","author":"T Takizawa","year":"1986","unstructured":"Takizawa T, Huang I-Y, Ikuta T, Yoshida A (1986) Human glucose-6-phosphate dehydrogenase: primary structure and cDNA cloning. Proc Natl Acad Sci 83:4157\u20134161","journal-title":"Proc Natl Acad Sci"},{"key":"1614_CR28","doi-asserted-by":"publisher","first-page":"22","DOI":"10.5414\/NP300889","volume":"35","author":"E Tasca","year":"2016","unstructured":"Tasca E, Pegoraro V, Merico A, Angelini C (2016) Circulating microRNAs as biomarkers of muscle differentiation and atrophy in ALS. Clin Neuropathol 35:22\u201330","journal-title":"Clin Neuropathol"},{"issue":"1","key":"1614_CR29","doi-asserted-by":"publisher","first-page":"112","DOI":"10.1016\/S1079-9796(03)00119-0","volume":"31","author":"G Vaca","year":"2003","unstructured":"Vaca G, Ar\u00e1mbula E, Monsalvo A, Medina C, Nu\u00f1ez C, Sandoval L, L\u00f3pez-Guido B (2003) Glucose-6-phosphate dehydrogenase (G-6-PD) mutations in Mexico: four new G-6- PD variants. Blood Cells Mol Dis 31(1):112\u2013120","journal-title":"Blood Cells Mol Dis"},{"key":"1614_CR30","doi-asserted-by":"publisher","unstructured":"Vetrovoy O, Sarieva K, Lomert E, Nimiritsky P, Eschenko N, Galkina O et al (2019) Pharmacological HIF1 inhibition eliminates downregulation of the pentose phosphate pathway and prevents neuronal apoptosis in rat Hippocampus caused by severe hypoxia. J Mol Neurosci 70(5):635\u2013646. https:\/\/doi.org\/10.1007\/s12031-019-01469-8","DOI":"10.1007\/s12031-019-01469-8"},{"key":"1614_CR31","doi-asserted-by":"publisher","first-page":"908","DOI":"10.1007\/s12031-019-01465-y","volume":"70","author":"R Yao","year":"2020","unstructured":"Yao R, Zhang Y, Liu J, Wang J, Xu Y, Li N, Wang J, Yu T (2020) Clinical and molecular characterization of three novel ARHGEF9 mutations in patients with developmental delay and epilepsy. J Mol Neurosci 70:908\u2013915","journal-title":"J Mol Neurosci"},{"issue":"1","key":"1614_CR32","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1002\/path.2995","volume":"226","author":"S Yip","year":"2011","unstructured":"Yip S, Butterfield YS, Morozova O et al (2011) Concurrent CIC mutations, IDH mutations, and 1p\/19q loss distinguish oligodendrogliomas from other cancers. J Pathol 226(1):7\u201316","journal-title":"J Pathol"},{"key":"1614_CR33","doi-asserted-by":"publisher","first-page":"W291","DOI":"10.1093\/nar\/gkx366","volume":"45","author":"C Zhang","year":"2017","unstructured":"Zhang C, Freddolino PL, Zhang Y (2017) COFACTOR: improved protein function prediction by combining structure, sequence and protein-protein interaction information. Nucleic Acids Res 45:W291\u2013W299","journal-title":"Nucleic Acids Res"}],"container-title":["Journal of Molecular Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12031-020-01614-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12031-020-01614-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12031-020-01614-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,6,12]],"date-time":"2021-06-12T23:21:59Z","timestamp":1623540119000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12031-020-01614-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6,13]]},"references-count":33,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["1614"],"URL":"https:\/\/doi.org\/10.1007\/s12031-020-01614-8","relation":{},"ISSN":["0895-8696","1559-1166"],"issn-type":[{"value":"0895-8696","type":"print"},{"value":"1559-1166","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,6,13]]},"assertion":[{"value":"4 November 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 May 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 June 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with Ethical Standards"}},{"value":"Ethics statement permission was obtained from Biruni University ethics committees (2017\/10-11). All procedures followed were in accordance with the ethical standards of the Helsinki Declaration of 1975, as revised in 2013. Patients given consent to use their data in this study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent"}}]}}