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ATP2C1
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Abstract:

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[1] Metze D, Hamm H, Schorat A, et al. Involvement of the adherens junction-actin filament system in acantholytic dyskeratosis of Hailey-Hailey disease. A histological, ultrastructural, and histochemical study of lesional and non-lesional skin. J Cutan Pathol, 1996, 23:211-222.
[2] Richard G, Korge BP, Wright AR, et al. Hailey-Hailey disease maps to a 5 cM interval on chromosome 3q21-q24. J Invest Dermatol,1995, 105:357-360.
[3] Sudbrak R, Brown J, Dobson-Stone C, et al. Hailey-Hailey disease is caused by mutations in ATP2C 1 encoding a novel Ca (2+) pump.Hum Mol Genet, 2000, 9:1131-1140.
[4] Hu Z, Bonifas JM, Beech J,et al. Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. Nat Genet, 2000, 24:61-65.
[5] Wei Y, Chen J, Rosas G, et al. Phenotypic screening of mutations in Pmr1, the yeast secretory pathway Ca2+/Mn2+-ATPase, reveals residues critical for ion selectivity and transport. J Biol Chem, 2000, 275:23927-23932.
[6] Ton VK, Mandal D, Vahadji C, et al. Functional expression in yeast of the human secretory pathway Ca2+, Mn2+-ATPase defective in Hailey-Hailey disease. J Biol Chem, 2002, 277:6422-6427.
[7] Behne MJ, Tu CL, Aronchik I,et al. Human keratinocyte ATP2C1 localizes to the Golgi and controls Golgi Ca2+stores. J Invest Dermatol, 2003, 121:688-694.
[8] Wuytack F, Raeymaekers L, Missiaen L. PMR1/SPCA Ca2+ pumps and the role of the Golgi apparatus as a Ca2+ store. Pflugers Arch, 2003, 446:148-153.
[9] Callewaert G, Parys JB, De Smedt H, et al. Similar Ca2+-signaling properties in keratinocytes and in COS-1 cells overexpressing the secretory-pathwgy Ca2+-ATPase SPCA1. Cell Calcium, 2003, 34:157-162.
[10] Missiaen L, Raeymaekers L, Dode L, et al. SPCA1 pumps and Hai ley-Hailey disease. Biochem Biophys Res Commun, 2004, 322:1204-1213.
[11] Van Baelen K, Dode L, Vanoevelen J, et al. The Ca2+/Mn2+ pumps in the Golgi apparatus. Biochim Biophys Acta, 2004, 1742:103-112.
[12] Foggia L, Hovnanian A. Calcium pump disorders of the skin. Am J Med Genet C Semin Med Genet, 2004,131:20-31.
[13] Fairclough RJ, Dode L, Vanoevelen J, et al. Effect of Hailey-Hailey Disease mutations on the function of a new variant of human secre tory pathway Ca2+/Mn2+-ATPase (hSPCA1). J Biol Chem, 2003, 278:24721-24730.
[14] Fairclough RJ, Lonie L, Van Baelen K, et al. Hailey-Hailey disease:identification of novel mutations in ATP2C1 and effect of missense mutation A528P on protein expression levels. J Invest Dermatol, 2004, 123:67-71.
[15] Wuytack F, Raeymaekers L, Missiaen L. Molecular physiology of the SERCA and SPCA pumps. Cell Calcium, 2002, 32:279-305.
[16] Dhitavat J, Fairclough RJ, Hovnanian A,et al. Calcium pumps andkeratinocytes:lessons from Darier's disease and Hailey-Hailey disease. Br J Dermatol, 2004, 150:821-828.
[17] Dobson-Stone C, Fairclough R, Dunne E, et al. Hailey-Hailey dis ease:molecular and clinical characterization of novel mutations in the ATP2C1 gene. J Invest Dermatol, 2002, 118:338-343.
[18] Ikeda S, Shigihara T, Mayuzumi N, et al. Mutations of A TP2C1 in Japanese patients with Hailey-Hailey disease:intrafamilial and in terfamilial phenotype variations and lack of correlation with mutation patterns. J Invest Dermatol, 2001, 117:1654-1656.
[19] Aronchik I, Behne MJ, Leypoldt L, et al. Actin reorganization is abnormal and cellular ATP is decreased in Hailey-Hailey keratinocytes. J Invest Dermatol, 2003, 121:681-687.
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1��¥����, ��ɽ�.�������������崯�����ƽ�չ[J]. ����Ƥ���Բ�ѧ��־, 2007,33(6): 331-333
2�������,������.�������������崯[J]. ����Ƥ���Բ�ѧ��־, 2008,34(6): 388-390
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