최소 단어 이상 선택하여야 합니다.
최대 10 단어까지만 선택 가능합니다.
다음과 같은 기능을 한번의 로그인으로 사용 할 수 있습니다.
NTIS 바로가기Journal of Korean medical science : JKMS, v.21 no.4 = no.110, 2006년, pp.733 - 738
Hong, Young Bin (Department of Biomedical Sciences, National Institute of Health, Seoul, Korea.) , Kim, Eun Young (Department of Biomedical Sciences, National Institute of Health, Seoul, Korea.) , Jung, Sung-Chul (Department of Biochemistry, College of Medicine, Ewha Womans University, Seoul, Korea.)
Gaucher disease is caused by a deficiency of glucocerebrosidase. Patients with Gaucher disease are divided into three major phenotypes: chronic nonneuronopathic, acute neuronopathic, and chronic neuronopathic, based on symptoms of the nervous system, the severity of symptoms, and the age of disease ...
1 Beutler E Grabowski GA Scriver CR Beaudet AL Sly WS Valle D Gaucher disease The Metabolic and Molecular Bases of Inherited Disease 2001 New York McGraw-Hill 3635 3668
2 Brady RO Kanfer JN Bradley RM Shapiro D Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease J Clin Invest 1966 45 1112 1115 5338605
3 Brady RO Barton NW Grabowski GA The role of neurogenetics in Gaucher disease Arch Neurol 1993 50 1212 1224 8215980
4 Hong YB Kim EY Jung SC Down regulation of Bcl-2 in the fetal brain of Gaucher disease mouse model: a possible role in the neuronal loss J Hum Genet 2004 49 349 354 15179559
5 Barak V Acker M Nisman B Kalickman I Abrahamov A Zimran A Yatziv S Cytokines in Gaucher's disease Eur Cytokine Netw 1999 10 205 210 10400826
6 Lichtenstein M Zimran A Horowitz M Cytokine mRNA in Gaucher disease Blood Cell Mol Dis 1997 23 395 401
7 Mizukami H Mi Y Wada R Kono M Yamashita T Liu Y Werth N Sandhoff R Sandhoff K Proia RL Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storage J Clin Invest 2002 109 1215 1221 11994410
8 Baudry M Yao Y Simmons D Liu J Bi X Postnatal development of inflammation in a murine model of Niemann-Pick type C disease: immunohistochemical observations of microglia and astroglia Exp Neurol 2003 184 887 903 14769381
9 Jeyakumar M Thomas R Elliot-Smith E Smith DA van der Spoel AC d'Azzo A Perry VH Butters TD Dwek RA Platt FM Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis Brain 2003 126 974 987 12615653
10 Wu YP Proia RL Deletion of macrophage-inflammatory protein 1α retards neurodegeneration in Sandhoff disease mice Proc Natl Acad Sci USA 2004 101 8425 8430 15155903
11 Tybulewicz VL Tremblay ML LaMarca ME Willemsen P Stubblefield BK Winfield S Zablocka B Sidransky E Martin BM Huang SP Mintzer KN Westphal H Mulligan RO Ginns EI Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene Nature 1992 357 407 410 1594045
12 Min KJ Yang MS Jou I Joe EH Protein kinase A mediates microglial activation induced by plasminogen and gangliosides Exp Mol Med 2004 36 461 467 15557818
13 Pelled D Shogomori H Futerman AH The increased sensitivity of neurons with elevated glucocerebroside to neurotoxic agents can be reversed by imiglucerase J Inherit Metab Dis 2000 23 175 184 10801059
14 Ding AH Nathan CF Stuehr DJ Release of reactive nitrogen intermediates and reactive oxygen intermediates from mouse peritoneal macrophages: comparison of activating cytokines and evidence for independent production J Immunol 1988 141 2407 2412 3139757
15 Korkotian E Schwarz A Pelled D Schwarzmann G Segal M Futerman AH Elevation of intracellular glucosylceramide levels results in an increase in endoplasmic reticulum density and in functional calcium stores in cultured neurons J Biol Chem 1999 274 21673 21678 10419477
16 Orvisky E Park JK LaMarca ME Ginns EI Martin BM Tayebi N Sidransky E Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: Correlation with phenotype and genotype Mol Genet Metab 2002 76 262 270 12208131
17 Orvisky E Sidransky E McKinney CE LaMarca ME Samimi R Krasnewich D Martin BM Ginns EI Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation Pediatr Res 2000 48 233 237 10926300
18 Lloyd-Evans E Pelled D Riebeling G Futerman AH Lyso-glycosphingolipids mobilize calcium from brain microsomes via multiple mechanisms Biochem J 2003 375 561 565 12917012
19 Schueler UH Kolter T Kaneski CR Blusztajn JK Herkenham M Sandhoff K Brady RO Toxicity of glucosylsphingosine to cultured neuronal cells: a model system for assessing neuronal damage in Gaucher disease type 2 and 3 Neurobiol Dis 2003 14 595 601 14678774
20 Raas-Rothschild A Pankova-Kholmyansky I Kacher Y Futerman AH Glycosphingolipidoses: beyond the enzymatic defect Glycoconj J 2004 21 295 304 15514478
21 Shoenfeld Y Gallant LA Shaklai M Livni E Djaaldetti M Pinkhas J Gaucher's disease: a disease with chronic stimulation of the immune system Arch Pathol Lab Med 1982 106 388 391 7049116
22 Kluth DC Rees AJ Inhibiting inflammatory cytokines Semin Nephrol 1996 16 576 582 9125802
23 Liu B Hong JS Role of microglia in inflammation mediated neurodegenerative disease: mechanisms and strategies for therapeutic intervention J Pharmacol Exp Ther 2003 304 1 7 12490568
24 McGeer PL Itagaki S Boyes BE McGeer EG Reactive microglia are positive for HLA-DR in the substantia nigra of Parkinson's and Alzheimer's disease brains Neurology 1998 38 1285 1291 3399080
25 Raine CS Multiple sclerosis: immune system molecule expression in the central nervous system J Neuropathol Exp Neurol 1994 53 328 337 8021705
26 Guzik TJ Korbut R Adamek-Guzik T Nitric oxide and superoxide in inflammation and immune regulation J Physiol Pharmalcol 2003 54 469 487
27 Bogdan C Nitric oxide and the immune response Nat Immunol 2001 2 907 916 11577346
28 Faber JL Mechanisms of cell injury by activated oxygen species Environ Health Perspect 1994 102 17 24
29 Wang T Qin L Liu B Liu Y Wilson B Eling TE Langenbach R Taniura S Hong JS Role of reactive oxygen species in LPS-induced production of prostaglandin E2 in microglia J Neurochem 2004 88 939 947 14756815
30 Lal MA Brismar H Eklof AC Aperia A Role of oxidative stress in advanced glycation end product-induced mesangial cell activation Kidney Int 2002 61 2006 2014 12028441
31 Rosenberger J Petrovics G Buzas B Oxidative stress induces proorphanin FQ and proenkephalin gene expression in astrocytes through p38- and ERK-MAP kinases and NF-kappaB J Nerurochem 2001 79 35 44
32 Myerowitz R Lawson D Mizukami H Mi Y Tifft CJ Proia RL Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling Hum Mol Genet 2002 11 1343 1350 12019216
33 Wada R Tifft CJ Proia RL Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation Proc Natl Acad Sci USA 2000 97 10954 10959 11005868
34 Liu Y Suzuki K Reed JD Grinberg A Westphal H Hoffmann A Döring T Sandhoff K Proia RL Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure (SIMP) Proc Natl Acad Sci USA 1998 95 2503 2508 9482915
35 Xu YH Quinn B Witte D Grabowski GA Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease Am J Pathol 2003 163 2093 2101 14578207
*원문 PDF 파일 및 링크정보가 존재하지 않을 경우 KISTI DDS 시스템에서 제공하는 원문복사서비스를 사용할 수 있습니다.
출판사/학술단체 등이 한시적으로 특별한 프로모션 또는 일정기간 경과 후 접근을 허용하여, 출판사/학술단체 등의 사이트에서 이용 가능한 논문
※ AI-Helper는 부적절한 답변을 할 수 있습니다.