참고문헌
- Aebi H. Catalase. In: Bergmyer, HU ed. Methods in enzymatic analysis. Vol. 2. New York: Academic Press, 1974; 671-678
- Anikster Y, Huizing M, White J, Shevchenko YO, Fitzpatrick DL, Touchman JW, Compton JG, Bale SJ, Swank RT, Gahl WA and Toro JR. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico, Nat Genet 2001; 28: 376-380 https://doi.org/10.1038/ng576
- Avila NA, Brantly M, Premkumar A, Huizing M, Dwyer A and Gahl WA. Hermansky-Pudlak syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studies, AJR Am J Roentgenol 2002; 179: 887-892 https://doi.org/10.2214/ajr.179.4.1790887
- Barnes PJ. New concepts in chronic obstructive pulmonary disease, Annu Rev Med 2003; 54: 113-129 https://doi.org/10.1146/annurev.med.54.101601.152209
- Bautista JM, Mason PJ and Luzzatto L. Purification and properties of human glucose-6-phosphate dehydrogenase made in E. coli, Biochim Biophys Acta 1992; 1119: 74-80 https://doi.org/10.1016/0167-4838(92)90237-8
- Brantly M, Avila NA, Shotelersuk V, Lucero C, Huizing M and Gahl WA. Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1, Chest 2000; 117: 129-136 https://doi.org/10.1378/chest.117.1.129
- Cohen MB and Duvel DL. Characterization of the inhibition of glutathione reductase and the recovery of enzyme activity in exponentially growing murine leukemia (L1210) cells treated with 1, 3-bis (2-chloroethyl)-1-nitrosourea, Biochem Pharmacol 1988; 37: 3317-3320 https://doi.org/10.1016/0006-2952(88)90645-4
- Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA and Bonifacino JS. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor, Mol Cell 1999; 3: 11-21 https://doi.org/10.1016/S1097-2765(00)80170-7
- Feng L, Novak EK, Hartnell LM, Bonifacino JS, Collinson LM and Swank RT. The Hermansky-Pudlak syndrome 1 (HPS1) and HPS2 genes independently contribute to the production and function of platelet dense granules, melanosomes, and lysosomes, Blood 2002; 99: 1651-1658
- Habig WH, Pabst MJ and Jakoby WB. Glutathione S-transferases. The first enzymatic step in mercapturic acid formation, J Biol Chem 1974; 9: 7130-7139
- Hermansky F and Pudlak P. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies, Blood 1959; 14: 162-169
- Huizing M, Anikster Y and Gahl WA. Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking, Thromb Haemost 2001; 86: 233-245 https://doi.org/10.1055/s-0037-1616221
- Lee K, Park JS, Kim YJ, Lee YS, Hwang TS, Kim DJ, Park EM and Park YM. Differential expression of Prx I and II in mouse testis and their up-regulation by radiation, Biochem Biophys Res Commun 2002; 296: 337-342 https://doi.org/10.1016/S0006-291X(02)00801-X
- Lyerla TA, Rusiniak ME, Borchers M, Jahreis G, Tan J, Ohtake P, Novak EK and Swank RT. Aberrant lung structure, composition, and function in a murine model of Hermansky-Pudlak syndrome, Am J Physiol Lung Cell Mol Physiol 2003; 285: L643-653 https://doi.org/10.1152/ajplung.00024.2003
- Marshall RP, McAnulty RJ and Laurent GJ. The pathogenesis of pulmonary fibrosis: is there a fibrosis gene? Int J Biochem Cell Biol 1997; 29: 107-120 https://doi.org/10.1016/S1357-2725(96)00141-0
- McCord JM and Fridovich I. Superoxide dismutase. An enzymic function for erythrocuprein (hemocuprein), J Biol Chem 1969; 244: 6049-6055
- Nakatani Y, Nakamura N, Sano J, Inayama Y, Kawano N, Yamanaka S, Miyagi Y, Nagashima Y, Ohbayashi C, Mizushima M, Manabe T, Kuroda M, Yokoi T and Matsubara O. Interstitial pneumonia in Hermansky-Pudlak syndrome: significance of florid foamy swelling/degeneration (giant lamellar body degeneration) of type-2 pneumocytes, Virchows Arch 2000; 437: 304-313 https://doi.org/10.1007/s004280000241
- Oh J, Bailin T, Fukai K, Feng GH, Ho L, Mao JI, Frenk E, Tamura N and Spritz RA. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles, Nat Genet 1996; 14: 300-306 https://doi.org/10.1038/ng1196-300
- Paglia DE and Valentine WN. Studies on the quantitative and qualitative characterization of erythrocyte glutathione peroxidase, J Lab Clin Med 1967; 70: 158-169
- Park EM, Park YM and Gwak YS. Oxidative damage in tissues of rats exposed to cigarette smoke, Free Radic Biol Med 1998; 25: 79-86 https://doi.org/10.1016/S0891-5849(98)00041-0
- Reed DJ, Babson JR, Beatty PW, Brodie AE, Ellis WW and Potter DW. High-performance liquid chromatography analysis of nanomole levels of glutathione, glutathione disulfide, and related thiols and disulfides, Anal Biochem 1980; 106: 55-62 https://doi.org/10.1016/0003-2697(80)90118-9
- Robinson MS and Bonifacino JS. Adaptor-related proteins, Curr Opin Cell Biol 2001; 13: 444-453 https://doi.org/10.1016/S0955-0674(00)00235-0
- Seelig GF and Meister A. Gamma-glutamylcysteine synthetase from erythrocytes, Anal Biochem 1984; 141: 510 -514 https://doi.org/10.1016/0003-2697(84)90079-4
- Spritz RA. Multi-organellar disorders of pigmentation: intracellular traffic jams in mammals, flies and yeast, Trends Genet 1999; 15: 337-340 https://doi.org/10.1016/S0168-9525(99)01785-0
- Suzuki T, Li W, Zhang Q, Karim A, Novak EK, Sviderskaya EV, Hill SP, Bennett DC, Levin AV, Nieuwenhuis HK, Fong CT, Castellan C, Miterski B, Swank RT and Spritz RA. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene, Nat Genet 2002; 30: 321-324 https://doi.org/10.1038/ng835
- Swank RT, Novak EK, McGarry MP, Rusiniak ME and Feng L. Mouse models of Hermansky Pudlak syndrome: a review, Pigment Cell Res 1998; 11: 60-80 https://doi.org/10.1111/j.1600-0749.1998.tb00713.x
- Swank RT, Novak EK, McGarry MP, Zhang Y, Li W, Zhang Q and Feng L. Abnormal vesicular trafficking in mouse models of Hermansky-Pudlak syndrome, Pigment Cell Res 2000; 13 Suppl 8: 59-67 https://doi.org/10.1034/j.1600-0749.13.s8.12.x
- Weaver TE, Na CL and Stahlman M. Biogenesis of lamellar bodies, lysosome-related organelles involved in storage and secretion of pulmonary surfactant, Semin Cell Dev Biol 2002; 13: 263-270 https://doi.org/10.1016/S1084952102000551
- Witkop CJ, Nunez Babcock M, Rao GH, Gaudier F, Summers CG, Shanahan F, Harmon KR, Townsend D, Sedano HO, King RA, Cal SX and White JG. Albinism and Hermansky-Pudlak syndrome in Puerto Rico, Bol Asoc Med P R 1990; 82: 333-339
- Zhang Q, Zhao B, Li W, Oiso N, Novak EK, Rusiniak ME, Gautam R, Chintala S, O'Brien EP, Zhang Y, Roe BA, Elliott RW, Eicher EM, Liang P, Kratz C, Legius E, Spritz RA, O'Sullivan TN, Copeland NG, Jenkins NA and Swank RT. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6, Nat Genet 2003; 33: 145-153 https://doi.org/10.1038/ng1087