Page 601 - Hematology_ Basic Principles and Practice ( PDFDrive )

Chapter 38 Heme Biosynthesis and Its Disorders 513.e3

100. Phillips JD, Bergonia HA, Reilly CA, et al: A porphomethene inhibitor 122. Straka JG, Hill HD, Krikava JM, et al: Immunochemical studies of fer-
of uroporphyrinogen decarboxylase causes porphyria cutanea tarda. Proc rochelatase protein: characterization of the normal and mutant protein
Natl Acad Sci USA 104:5079, 2007. in bovine and human protoporphyria. Am J Hum Genet 48:72, 1991.
101. Greaves P, Clothier B, Davies R, et al: Uroporphyria and hepatic 123. Gouya L, Puy H, Robreau AM, et al: The penetrance of dominant
carcinogenesis induced by polychlorinated biphenyls-iron interaction: erythropoietic protoporphyria is modulated by expression of wildtype
absence in the Cyp1a2(-/-) knockout mouse. Biochem Biophys Res FECH. Nat Genet 30:27, 2002.
Commun 331:147, 2005. 124. Bishop DF, Schneider-Yin X, Clavero S, et al: Congenital erythropoi-
102. Smith AG, Carthew P, Clothier B, et al: Synergy of iron in the toxicity etic porphyria: a novel uroporphyrinogen III synthase branchpoint
and carcinogenicity of polychlorinated biphenyls (PCBs) and related mutation reveals underlying wild-type alternatively spliced transcripts.
chemicals. Toxicol Lett 82-83, 1995. Blood 115:1062, 2010.
103. Bulaj ZJ, Phillips JD, Ajioka RS, et al: Hemochromatosis genes and 125. Nakano H, Nakano A, Toyomaki Y, et al: Novel ferrochelatase muta-
other factors contributing to the pathogenesis of porphyria cutanea tions in Japanese patients with erythropoietic protoporphyria: high
tarda. Blood 95:1565, 2000. frequency of the splice site modulator IVS3-48C polymorphism in the
104. Roberts AG, Whatley SD, Morgan RR, et al: Increased frequency of the Japanese population. J Invest Dermatol 126:2717, 2006.
haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea 126. Norris PG, Nunn AV, Hawk JL, et al: Genetic heterogeneity in erythro-
tarda. Lancet 349:321, 1997. poietic protoporphyria: a study of the enzymatic defect in nine affected
105. Santos M, Clevers HC, Marx JJ: Mutations of the hereditary hemo- families. J Invest Dermatol 95:260, 1990.
chromatosis candidate gene HLA-H in porphyria cutanea tarda. N Engl 127. Wang X, Poh-Fitzpatrick M, Taketani S, et al: Screening for fer-
J Med 336:1327, 1997. rochelatase mutations: molecular heterogeneity of erythropoietic
106. Munoz-Santos C, Guilabert A, Moreno N, et al: Familial and sporadic protoporphyria. Biochim Biophys Acta 1225:187, 1994.
porphyria cutanea tarda: clinical and biochemical features and risk 128. Bishop DF, Tchaikovskii V, Nazarenko I, et al: Molecular expression
factors in 152 patients. Medicine (Baltimore) 89:69, 2010. and characterization of erythroid-specific 5-aminolevulinate synthase
107. Blauvelt A: Hepatitis C virus and human immunodeficiency virus infec- gain-of-function mutations causing X-linked protoporphyria. Mol Med
tion can alter porphyrin metabolism and lead to porphyria cutanea 19:18, 2013.
tarda. Arch Dermatol 132:1503, 1996. 129. Todd DJ: Erythropoietic protoporphyria. Br J Dermatol 131:751, 1994.
108. Enriquez de Salamanca R, Sanchez-Perez J, Diaz-Mora F, et al: Por- 130. Poh-Fitzpatrick MB: Human protoporphyria: reduced cutaneous pho-
phyria cutanea tarda associated with HIV infection: are those conditions tosensitivity and lower erythrocyte porphyrin levels during pregnancy.
pathogenetically related or merely coincidental? AIDS 4:926, 1990. J Am Acad Dermatol 36:40, 1997.
109. Smith SG: Hepatoerythropoietic porphyria. Semin Dermatol 5:125, 131. Doss MO, Frank M, Sieg I: [Cholestatic erythrohepatic protopor-
1986. phyria: porphyrin metabolism before and after liver transplantation].
110. McManus JF, Begley CG, Sassa S, et al: Five new mutations in the uro- Z Gastroenterol 31(Suppl 2):85, 1993.
porphyrinogen decarboxylase gene identified in families with cutaneous 132. Bloomer JR: The liver in protoporphyria. Hepatology 8:402, 1988.
porphyria. Blood 88:3589, 1996. 133. Bottomley SS, Tanaka M, Everett MA: Diminished erythroid ferroche-
111. Moran-Jimenez MJ, Ged C, Romana M, et al: Uroporphyrinogen latase activity in protoporphyria. J Lab Clin Med 86:126, 1975.
decarboxylase: complete human gene sequence and molecular study of 134. Mathews-Roth MM: Letter: Anemia in erythropoietic protoporphyria.
three families with hepatoerythropoietic porphyria. Am J Hum Genet JAMA 230:824, 1974.
58:712, 1996. 135. Rademakers LH, Koningsberger JC, Sorber CW, et al: Accumulation
112. Phillips JD, Parker TL, Schubert HL, et al: Functional consequences of of iron in erythroblasts of patients with erythropoietic protoporphyria.
naturally occurring mutations in human uroporphyrinogen decarboxyl- Eur J Clin Invest 23:130, 1993.
ase. Blood 98:3179, 2001. 136. Sarkany RP, Ross G, Willis F: Acquired erythropoietic protoporphyria
113. Koszo F, Morvay M, Dobozy A, et al: Erythrocyte uroporphyrinogen as a result of myelodysplasia causing loss of chromosome 18. Br J
decarboxylase activity in 80 unrelated patients with porphyria cutanea Dermatol 155:464, 2006.
tarda. Br J Dermatol 126:446, 1992. 137. Goodwin RG, Kell WJ, Laidler P, et al: Photosensitivity and acute liver
114. Poh-Fitzpatrick MB: Porphyria, pseudoporphyria, pseudopseudopor- injury in myeloproliferative disorder secondary to late-onset protopor-
phyria…? Arch Dermatol 122:403, 1986. phyria caused by deletion of a ferrochelatase gene in hematopoietic cells.
115. Seubert S, Seubert A, Rumpf KW, et al: A porphyria cutanea tarda-like Blood 107:60, 2006.
distribution pattern of porphyrins in plasma, hemodialysate, hemofil- 138. Romslo I, Brun A, Sandberg S, et al: Sideroblastic anemia with
trate, and urine of patients on chronic hemodialysis. J Invest Dermatol markedly increased free erythrocyte protoporphyrin without dermal
85:107, 1985. photosensitivity. Blood 59:628, 1982.
116. Guolo M, Stella AM, Melito V, et al: Altered 5-aminolevulinic acid 139. Rothstein G, Lee R, Cartwright GE: Sideroblastic anemia with dermal
metabolism leading to pseudoporphyria in hemodialysed patients. Int photosensitivity and greatly increased erythrocyte protoporphyrin. N
J Biochem Cell Biol 28:311, 1996. Engl J Med 280:587, 1969.
117. Goerz G, Bunselmeyer S, Bolsen K, et al: Ferrochelatase activities in 140. Scott AJ, Ansford AJ, Webster BH, et al: Erythropoietic protoporphyria
patients with erythropoietic protoporphyria and their families. Br J with features of a sideroblastic anaemia terminating in liver failure. Am
Dermatol 134:880, 1996. J Med 54:251, 1973.
118. Balwani M, Doheny D, Bishop DF, et al: Loss-of-function fer- 141. Tuckfield A, Ratnaike S, Hussein S, et al: A novel form of hereditary
rochelatase and gain-of-function erythroid-specific 5-aminolevulinate sideroblastic anaemia with macrocytosis. Br J Haematol 97:279, 1997.
synthase mutations causing erythropoietic protoporphyria and x-linked 142. Schultz JH: Ein Fall von Pemphigus Leprosus kompliziert durch Lepra
protoporphyria in North American patients reveal novel mutations and Visceralis [inaugural dissertation], Germany, 1874, Griefswald.
a high prevalence of X-linked protoporphyria. Mol Med 19:26, 2013. 143. Shady AA, Colby BR, Cunha LF, et al: Congenital erythropoietic
119. Crouse BR, Sellers VM, Finnegan MG, et al: Site-directed muta- porphyria: identification and expression of eight novel mutations in
genesis and spectroscopic characterization of human ferrochelatase: the uroporphyrinogen III synthase gene. Br J Haematol 117:980, 2002.
identification of residues coordinating the [2Fe-2S] cluster. Biochemistry 144. Huang JL, Zaider E, Roth P, et al: Congenital erythropoietic porphyria:
35:16222, 1996. clinical, biochemical, and enzymatic profile of a severely affected infant.
120. Schneider-Yin X, Gouya L, Dorsey M, et al: Mutations in the iron- J Am Acad Dermatol 34:924, 1996.
sulfur cluster ligands of the human ferrochelatase lead to erythropoietic 145. To-Figueras J, Ducamp S, Clayton J, et al: ALAS2 acts as a modi-
protoporphyria. Blood 96:1545, 2000. fier gene in patients with congenital erythropoietic porphyria. Blood
121. Chen W, Dailey HA, Paw BH: Ferrochelatase forms an oligomeric 118:1443, 2011.
complex with mitoferrin-1 and Abcb10 for erythroid heme biosynthe- 146. Pullon HW, Bellingham AJ, Humphreys S, et al: The osteodystrophy
sis. Blood 116:628, 2010. of congenital erythropoietic porphyria. Bone 12:89, 1991.