{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T19:03:59Z","timestamp":1790708639166,"version":"4.1.0"},"reference-count":19,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2004,6,4]],"date-time":"2004-06-04T00:00:00Z","timestamp":1086307200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2004,7]]},"DOI":"10.1007\/s10038-004-0155-2","type":"journal-article","created":{"date-parts":[[2004,6,3]],"date-time":"2004-06-03T09:20:53Z","timestamp":1086254453000},"page":"349-354","source":"Crossref","is-referenced-by-count":26,"title":["Down-regulation of Bcl-2 in the fetal brain of the Gaucher disease mouse model: a possible role in the neuronal loss"],"prefix":"10.1038","volume":"49","author":[{"given":"Young Bin","family":"Hong","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eun Young","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sung-Chul","family":"Jung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2004,6,4]]},"reference":[{"key":"155_CR1","unstructured":"Beutler E, Grabowski GA (2001) Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 3635\u20133668"},{"key":"155_CR2","doi-asserted-by":"crossref","first-page":"1112","DOI":"10.1172\/JCI105417","volume":"45","author":"Brady","year":"1966","unstructured":"Brady RO, Kanfer JN, Bradley RM, Shapiro D (1966) Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher\u2019s disease. J Clin Invest 45:1112\u20131115","journal-title":"J Clin Invest"},{"key":"155_CR3","doi-asserted-by":"crossref","first-page":"4397","DOI":"10.1073\/pnas.92.10.4397","volume":"92","author":"Farlie","year":"1995","unstructured":"Farlie PG, Dringen R, Ress SM, Kannourakis G, Bernard O (1995) Bcl-2 transgene expression can protect neurons against developmental and induced cell death. Proc Natl Acad Sci USA 92:4397\u20134401","journal-title":"Proc Natl Acad Sci USA"},{"key":"155_CR4","doi-asserted-by":"publisher","first-page":"222","DOI":"10.1002\/(SICI)1096-8628(20000320)91:3<222::AID-AJMG13>3.3.CO;2-R","volume":"91","author":"Finn","year":"2000","unstructured":"Finn LS, Zhang M, Chen SH, Scott CR (2000) Severe type II Gaucher disease with ichthyosis, arthrogryposis and neuronal apoptosis: molecular and pathological analyses. Am J Med Genet 91:222\u2013226","journal-title":"Am J Med Genet"},{"key":"155_CR5","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1126\/science.3101176","volume":"235","author":"Hannun","year":"1987","unstructured":"Hannun YA, Bell RM (1987) Lysosphingolipids inhibit protein kinase C: implications for the sphigolipidoses. Science 235:670\u2013674","journal-title":"Science"},{"key":"155_CR6","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1007\/BF02537346","volume":"23","author":"Igisu","year":"1988","unstructured":"Igisu H, Hamasaki N, Ito A, Ou W (1988) Inhibition of cytochrome c oxidase and hemolysis caused by lysosphingosine. Lipids 23:345\u2013348","journal-title":"Lipids"},{"key":"155_CR7","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1002\/ana.410200208","volume":"20","author":"Kaye","year":"1986","unstructured":"Kaye EM, Ullman MD, Wilson ER, Barranger JA (1986) Type 2 and type 3 Gaucher disease: a morphological and biochemical study. Ann Neurol 20:223\u2013230","journal-title":"Ann Neurol"},{"key":"155_CR8","doi-asserted-by":"publisher","first-page":"561","DOI":"10.1042\/BJ20030613","volume":"375","author":"Lloyd-Evans","year":"2003","unstructured":"Lloyd-Evans E, Pelled D, Riebeling G, Futerman AH (2003) Lyso-glycosphingolipids mobilize calcium from brain microsomes via multiple mechanisms. Biochem J 375:561\u2013565","journal-title":"Biochem J"},{"key":"155_CR9","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1016\/S0896-6273(00)80282-2","volume":"17","author":"Michaelidis","year":"1996","unstructured":"Michaelidis TM, Sendtner M, Cooper JD, Airaksinen MS, Holtmann B, Meyer M, Thoenen H (1996) Inactivation of bcl-2 results in progressive degeneration of motoneurons, sympathetic and sensory neurons during early postnatal development. Neuron 17:75\u201389","journal-title":"Neuron"},{"key":"155_CR10","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1203\/00006450-200008000-00018","volume":"48","author":"Orvisky","year":"2000","unstructured":"Orvisky E, Sidransky E, McKinney CE, LaMarca ME, Samimi R, Krasnewich D, Martin BM, Ginns EI (2000) Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation. Pediatr Res 48:233\u2013237","journal-title":"Pediatr Res"},{"key":"155_CR11","doi-asserted-by":"publisher","first-page":"262","DOI":"10.1016\/S1096-7192(02)00117-8","volume":"76","author":"Orvisky","year":"2002","unstructured":"Orvisky E, Park JK, LaMarca ME, Ginns EI, Martin BM, Tayebi N, Sidransky E (2002) Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype. Mol Genet Metab 76:262\u2013270","journal-title":"Mol Genet Metab"},{"key":"155_CR12","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1023\/A:1005622001239","volume":"23","author":"Pelled","year":"2000","unstructured":"Pelled D, Shogomori H, Futerman AH (2000) The increased sensitivity of neurons with elevated glucocerebroside to neurotoxic agents can be reversed by imiglucerase. J Inherit Metab Dis 23:175\u2013184","journal-title":"J Inherit Metab Dis"},{"key":"155_CR13","doi-asserted-by":"publisher","first-page":"605","DOI":"10.1016\/S0306-4522(01)00461-4","volume":"110","author":"Raghupathi","year":"2002","unstructured":"Raghupathi R, Conti AC, Graham DI, Krajewski S, Reed JC, Grady MS, Trojanowski JQ, McIntosh TK (2002) Mild traumatic brain injury induces apoptotic cell death in the cortex that is preceded by decreases in cellular Bcl-2 immunoreactivity. Neuroscience 110:605\u2013616","journal-title":"Neuroscience"},{"key":"155_CR14","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1016\/0014-5793(95)01508-6","volume":"379","author":"Sakakura","year":"1996","unstructured":"Sakakura C, Sweeney EA, Shirahama T, Hakomori SI, Igarashi Y (1996) Suppression of bcl-2 gene expression by sphingosine in the apoptosis of human leukemic HL-60 cells during phorbol ester-induced terminal differentiation. FEBS Lett 379:177\u2013180","journal-title":"FEBS Lett"},{"key":"155_CR15","doi-asserted-by":"publisher","first-page":"595","DOI":"10.1016\/j.nbd.2003.08.016","volume":"14","author":"Schueler","year":"2003","unstructured":"Schueler UH, Kolter T, Kaneski CR, Blusztajn JK, Herkenham M, Sandhoff K, Brady RO (2003) Toxicity of glucosylsphingosine to cultured neuronal cells: a model system for assessing neuronal damage in Gaucher disease type 2 and 3. Neurobiol Dis 14:595\u2013601","journal-title":"Neurobiol Dis"},{"key":"155_CR16","doi-asserted-by":"crossref","first-page":"22968","DOI":"10.1016\/S0021-9258(18)54449-5","volume":"266","author":"Shayman","year":"1991","unstructured":"Shayman JA, Deshmukh GD, Mahdiyoun S, Thomas TP, Wu D, Barcelon FS, Radin NS (1991) Modulation of renal epithelial cell growth by glucosylceramide: association with protein kinase C, sphingosine and diacylglycerol. J Biol Chem 266:22968\u201322974","journal-title":"J Biol Chem"},{"key":"155_CR17","doi-asserted-by":"crossref","first-page":"5116","DOI":"10.1073\/pnas.091062498","volume":"98","author":"Tusher","year":"2001","unstructured":"Tusher VG, Tibshirani R, Chu G (2001) Significance analysis of microarrays applied to the ionizing radiation response. Proc Natl Acad Sci USA 98:5116\u20135121","journal-title":"Proc Natl Acad Sci USA"},{"key":"155_CR18","doi-asserted-by":"publisher","first-page":"407","DOI":"10.1038\/357407a0","volume":"357","author":"Tybulewicz","year":"1992","unstructured":"Tybulewicz VLJ, Tremblay ML, LaMarca ME, Willemsen R, Stubblefield BK, Winfield S, Zablocka B, Sidransky E, Martin BM, Huang SP, Mintzer KA, Westphal H, Mulligan RC, Ginns EI (1992) Animal model of Gaucher\u2019s disease from targeted disruption of the mouse glucocerebrosidase gene. Nature 357:407\u2013410","journal-title":"Nature"},{"key":"155_CR19","doi-asserted-by":"crossref","first-page":"e15","DOI":"10.1093\/nar\/30.4.e15","volume":"30","author":"Yang","year":"2002","unstructured":"Yang YH, Dudoit S, Luu P, Lin DM, Peng V, Ngai J, Speed TP (2002) Normalization for cDNA microarray data: a robust composite method addressing single and multiple slide systematic variation. Nucleic Acids Res 30:e15","journal-title":"Nucleic Acids Res"}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/jhg200457.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg200457","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg200457.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T19:33:27Z","timestamp":1638387207000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/jhg200457"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,6,4]]},"references-count":19,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2004,7]]}},"alternative-id":["155"],"URL":"https:\/\/doi.org\/10.1007\/s10038-004-0155-2","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,6,4]]}}}