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202. Beutler E: Red cell enzyme defects as nondiseases and as diseases. Blood 54:1–7, 1979. 237. Kwon TH, Han YH, Hong SG, et al: Reactive oxygen species mediated DNA damage is
203. Jacob HS, Jandl JH: Effects of sulfhydryl inhibition on red blood cells. I. Mechanism of essential for abnormal erythropoiesis in peroxiredoxin II(–/–) mice. Biochem Biophys
hemolysis. J Clin Invest 41:779–792, 1962. Res Commun 424:189–195, 2012.
204. Valentine WN, Toohey JI, Paglia DE, et al: Modification of erythrocyte enzyme activi- 238. Johnson RM, Ho Y-S, Yu D-Y, et al: The effects of disruption of genes for peroxire-
ties by persulfides and methanethiol: Possible regulatory role. Proc Natl Acad Sci U S A doxin-2, glutathione peroxidase-1, and catalase on erythrocyte oxidative metabolism.
84:1394–1398, 1987. Free Radic Biol Med 48:519–525, 2010.
205. Ogasawara Y, Funakoshi M, Ishii K: Pyruvate kinase is protected by glutathione- 239. Nagababu E, Mohanty JG, Friedman JS, et al: Role of peroxiredoxin-2 in protecting
dependent redox balance in human red blood cells exposed to reactive oxygen species. RBCs from hydrogen peroxide-induced oxidative stress. Free Radic Res 47:164–171,
Biol Pharm Bull 31:1875–1881, 2008. 2013.
206. Magnani M, Stocchi V, Ninfali P, et al: Action of oxidized and reduced glutathione on 240. van Zwieten R, Verhoeven AJ, Roos D: Inborn defects in the antioxidant systems of
rabbit red blood cell hexokinase. Biochim Biophys Acta 615:113–120, 1980. human red blood cells. Free Radic Biol Med. 67:377–386, 2014.
207. Huisman TH, Dozy AM: Studies on the heterogeneity of hemoglobin. V. Binding of 241. Abrusci P, Chiarelli LR, Galizzi A, et al: Erythrocyte adenylate kinase deficiency: Char-
hemoglobin with oxidized glutathione. J Lab Clin Med 60:302–319, 1962. acterization of recombinant mutant forms and relationship with nonspherocytic hemo-
208. Kelner MJ, Montoya MA: Structural organization of the human glutathione reductase lytic anemia. Exp Hematol 35:1182–1189, 2007.
gene: Determination of correct cDNA sequence and identification of a mitochondrial 242. Balasubramaniam S, Duley JA, Christodoulou J: Inborn errors of purine metabolism:
leader sequence. Biochem Biophys Res Commun 269:366–368, 2000. Clinical update and therapies. J Inherit Metab Dis 37:669–686, 2014.
209. Karplus PA, Schulz GE: Refined structure of glutathione reductase at 1.54 A resolution. 243. Valentine WN, Paglia DE: Erythrocyte disorders of purine and pyrimidine metabolism.
J Mol Biol 195:701–729, 1987. Hemoglobin 4:669–681, 1980.
210. Wong KK, Blanchard JS: Human erythrocyte glutathione reductase: PH dependence of 244. Valentine WN, Fink K, Paglia DE, et al: Hereditary hemolytic anemia with human ery-
kinetic parameters. Biochemistry 28:3586–3590, 1989. throcyte pyrimidine 5’-nucleotidase deficiency. J Clin Invest 54:866–879, 1974.
211. Beutler E, Yeh MK: Y. Erythrocyte glutathione reductase. Blood 21:573–585, 1963. 245. Paglia DE, Valentine WN: Characteristics of a pyrimidine-specific 5′-nucleotidase in
212. Beutler E: Glutathione reductase: Stimulation in normal subjects by riboflavin supple- human erythrocytes. J Biol Chem 250:7973–7979, 1975.
mentation. Science 165:613–615, 1969. 246. Beutler E, Hartman G: Age-related red cell enzymes in children with transient ery-
213. Hoey L, McNulty H, Strain JJ: Studies of biomarker responses to intervention with ribo- throblastopenia of childhood and with hemolytic anemia. Pediatr Res 19:44–47, 1985.
flavin: A systematic review. Am J Clin Nutr 89:1960S–1980S, 2009. 247. Amici A, Emanuelli M, Magni G, et al: Pyrimidine nucleotidases from human erythro-
214. Mojzikova R, Dolezel P, Pavlicek J, et al: Partial glutathione reductase deficiency as a cyte possess phosphotransferase activities specific for pyrimidine nucleotides. FEBS
cause of diverse clinical manifestations in a family with unstable hemoglobin (Hemo- Lett 419:263–267, 1997.
globin Hana, beta63(E7) His-Asn). Blood Cells Mol Dis 45:219–222, 2010. 248. Bitto E, Bingman CA, Wesenberg GE, et al: Structure of pyrimidine 5′-nucleotidase
215. Mieyal JJ, Starke DW, Gravina SA, et al: Thioltransferase in human red blood cells: type 1. Insight into mechanism of action and inhibition during lead poisoning. J Biol
Kinetics and equilibrium. Biochemistry 30:8883–8891, 1991. Chem 281:20521–20529, 2006.
216. Mieyal JJ, Starke DW, Gravina SA, et al: Thioltransferase in human red blood cells: 249. Marinaki AM, Escuredo E, Duley JA, et al: Genetic basis of hemolytic anemia caused by
Purification and properties. Biochemistry 30:6088–6097, 1991. pyrimidine 5′ nucleotidase deficiency. Blood 97:3327–3332, 2001.
217. Srivastava SK, Beutler E: The transport of oxidized glutathione from human erythro- 250. Kanno H, Takizawa T, Miwa S, et al: Molecular basis of Japanese variants of pyrimidine
cytes. J Biol Chem 244:9–16, 1969. 5′-nucleotidase deficiency. Br J Haematol 126:265–271, 2004.
218. Prchal J, Srivastava SK, Beutler E: Active transport of GSSG from reconstituted erythro- 251. Hirono A, Fujii H, Natori H, et al: Chromatographic analysis of human erythrocyte
cyte ghosts. Blood 46:111–117, 1975. pyrimidine 5′-nucleotidase from five patients with pyrimidine 5′-nucleotidase defi-
219. Lunn G, Dale GL, Beutler E: Transport accounts for glutathione turnover in human ciency. Br J Haematol 65:35–41, 1987.
erythrocytes. Blood 54:238–244, 1979. 252. Sestini S, Ricci C, Micheli V, et al: Nicotinamide mononucleotide adenylyltransferase
220. Kondo T, Kawakami Y, Taniguchi N, et al: Glutathione disulfide-stimulated Mg2+-AT- activity in human erythrocytes. Arch Biochem Biophys 302:206–211, 1993.
Pase of human erythrocyte membranes. Proc Natl Acad Sci U S A 84:7373–7377, 253. Di Stefano M, Galassi L, Magni G: Unique expression pattern of human nicotinamide
1987. mononucleotide adenylyltransferase isozymes in red blood cells. Blood Cells Mol Dis
221. Board PG: Transport of glutathione S-conjugate from human erythrocytes. FEBS Lett 45:33–39, 2010.
124:163–165, 1981. 254. Hikosaka K, Ikutani M, Shito M, et al: Deficiency of nicotinamide mononucleotide
222. Kondo T, Murao M, Taniguchi N: Glutathione S-conjugate transport using inside-out adenylyltransferase 3 (Nmnat3) causes hemolytic anemia by altering the glycolytic flow
vesicles from human erythrocytes. Eur J Biochem 125:551–554, 1982. in mature erythrocytes. J Biol Chem 289:14796–14811, 2014.
223. Pulaski L, Jedlitschky G, Leier I, et al: Identification of the multidrug-resistance pro- 255. Arnold H, Blume KG, Lohr GW, et al: “Acquired” red cell enzyme defects in hematolog-
tein (MRP) as the glutathione-S-conjugate export pump of erythrocytes. Eur J Biochem ical diseases. Clin Chim Acta 57:187–189, 1974.
241:644–648, 1996. 256. Boivin P, Galand C, Hakim J, et al: Acquired erythroenzymopathies in blood disorders:
224. Marcus CJ, Habig WH, Jakoby WB: Glutathione transferase from human erythrocytes. Study of 200 cases. Br J Haematol 31:531–543, 1975.
Nonidentity with the enzymes from liver. Arch Biochem Biophys 188:287–293, 1978. 257. Kahn A, Marie J, Bernard J-F, et al: Mechanisms of the acquired erythrocyte enzyme
225. Awasthi YC, Singh SV: Purification and characterization of a new form of glutathione deficiencies in blood diseases. Clin Chim Acta 71:379–387, 1976.
S-transferase from human erythrocytes. Biochem Biophys Res Commun 125:1053–1060, 258. Kahn A: Abnormalities of erythrocyte enzymes in dyserythropoiesis and malignancies.
1984. Clin Haematol 10:123–138, 1981.
226. Schroder KR, Hallier E, Meyer DJ, et al: Purification and characterization of a new 259. Kornberg A, Goldfarb A: Preleukemia manifested by hemolytic anemia with pyru-
glutathione S-transferase, class theta, from human erythrocytes. Arch Toxicol. 70:559– vate-kinase deficiency. Arch Intern Med 146:785–786, 1986.
566, 1996. 260. Shinohara K, Tanaka KR: Hereditary deficiency of erythrocyte acetylcholinesterase. Am
227. Harvey JW, Beutler E: Binding of heme by glutathione S-transferase: A possible role of J Hematol 7:313–321, 1979.
the erythrocyte enzyme. Blood 60:1227–1230, 1982. 261. Rosa R, George C, Fardeau M, et al: A new case of phosphoglycerate kinase deficiency:
228. Beutler E, Dunning D, Dabe IB, et al: Erythrocyte glutathione S-transferase deficiency PGK Creteil associated with rhabdomyolysis and lacking hemolytic anemia. Blood
and hemolytic anemia. Blood 72:73–77, 1988. 60:84–91, 1982.
229. Winterbourn CC, Hawkins RE, Brian M, et al: The estimation of red cell superoxide 262. Marstein S, Jellum E, Halpern B, et al: Biochemical studies of erythrocytes in a patient
dismutase activity. J Lab Clin Med 85:337–341, 1975. with pyroglutamic acidemia (5-oxoprolinemia). N Engl J Med 295:406–412, 1976.
230. Rosen DR, Siddique T, Patterson D, et al: Mutations in Cu/Zn superoxide dismutase 263. Beutler E, Carson D, Dannawi H, et al: Metabolic compensation for profound erythro-
gene are associated with familial amyotrophic lateral sclerosis. Nature 362:59–62, cyte adenylate kinase deficiency. J Clin Invest 72:648–655, 1983.
1993. 264. Beutler E: Hemolytic Anemia in Disorders of Red Cell Metabolism. Plenum Press, New
231. Grzelak A, Kruszewski M, Macierzyńska E, et al: The effects of superoxide dismutase York, 1978.
knockout on the oxidative stress parameters and survival of mouse erythrocytes. Cell 265. Glucose-6-phosphate dehydrogenase deficiency. WHO Working Group. Bull World
Mol Biol Lett 14:23–34, 2009. Health Organ 67:601–611, 1989.
232. Iuchi Y, Okada F, Takamiya R, et al: Rescue of anaemia and autoimmune responses in 266. Betke K, Beutler E, Brewer GJ, et al: Standardization of procedures for the study of
SOD1-deficient mice by transgenic expression of human SOD1 in erythrocytes. Bio- glucose-6-phosphate dehydrogenase. Report of a WHO scientific group. World Health
chem J 422:313–320, 2009. Organ Tech Rep Ser 366:1–53, 1967.
233. Goth L, Nagy T: Inherited catalase deficiency: Is it benign or a factor in various age 267. Piomelli S, Corash LM, Davenport DD, et al: In vivo lability of glucose-6-phosphate
related disorders? Mutat Res 753:147–154, 2013. dehydrogenase in GdA- and Gd Mediterranean deficiency. J Clin Invest 47:940–948,
234. Takahara S: Progressive oral gangrene probably due to lack of catalase in the blood 1968.
(acatalasaemia); report of nine cases. Lancet 2:1101–1104, 1952. 268. Kahn A, Cottreau D, Boivin P: Molecular mechanism of glucose-6-phosphate dehydro-
235. Low FM, Hampton MB, Peskin AV, et al: Peroxiredoxin 2 functions as a noncatalytic genase deficiency. Humangenetik 25:101–109, 1974.
scavenger of low-level hydrogen peroxide in the erythrocyte. Blood 109:2611–2617, 269. Beutler E: Selectivity of proteases as a basis for tissue distribution of enzymes in hered-
2007. itary deficiencies. Proc Natl Acad Sci U S A 80:3767–3768, 1983.
236. Lee T-H, Kim S-U, Yu S-L, et al: Peroxiredoxin II is essential for sustaining life span of 270. Kirkman HN, Schettini F, Pickard BM: Mediterranean variant of glucose-6-phosphate
erythrocytes in mice. Blood 101:5033–5038, 2003. dehydrogenase. J Lab Clin Med 63:726–735, 1964.

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