Hailey- Hailey Disease.com
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Hailey- Hailey Disease.com
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Due to the large amount of scientific literature, links are given that will
direct you to PubMed where you can read the abstracts and either view or order
the full article. References are given from ~1990 to 2005.
J
Biol Chem. 2005 Mar 11;280(10):9467-73. Epub 2004 Dec 28. Deficiency
of ATP2C1, a Golgi Ion Pump, Induces Secretory Pathway Defects in Endoplasmic
Reticulum (ER)-associated Degradation and Sensitivity to ER Stress. J
Biol Chem. 2005 Jan 28; [Epub ahead of print] A
novel isoform of the secretory pathway Ca2+, Mn2+-ATPase, hSPCA2, has unusual
properties and is expressed in brain. Biochim
Biophys Acta. 2004 Dec 6;1742(1-3):103-12. The
Ca2+/Mn2+ pumps in the Golgi apparatus. Am
J Med Genet. 2004 Nov 15;131C(1):20-31. Calcium
pump disorders of the skin. Biochem
Biophys Res Commun. 2004 Oct 1;322(4):1204-13. SPCA1
pumps and Hailey-Hailey disease. Am
J Physiol Cell Physiol. 2004 Sep;287(3):C580-9. Functional
expression of heterologous proteins in yeast: insights into Ca2+ signaling and
Ca2+-transporting ATPases. Br
J Dermatol. 2004 May;150(5):821-8. Calcium
pumps and keratinocytes: lessons from Darier's disease and Hailey-Hailey
disease. J
Invest Dermatol. 2003 Oct;121(4):688-94. Human
keratinocyte ATP2C1 localizes to the Golgi and controls Golgi Ca2+ stores. J
Invest Dermatol. 2003 Oct;121(4):681-7. Actin
reorganization is abnormal and cellular ATP is decreased in Hailey-Hailey
keratinocytes. Cell
Calcium. 2003 Aug;34(2):157-62. Similar
Ca(2+)-signaling properties in keratinocytes and in COS-1 cells overexpressing
the secretory-pathway Ca(2+)-ATPase SPCA1. J
Biol Chem. 2003 Jul 4;278(27):24721-30. Epub 2003 Apr 21. Effect
of Hailey-Hailey Disease mutations on the function of a new variant of human
secretory pathway Ca2+/Mn2+-ATPase (hSPCA1). Pflugers
Arch. 2003 May;446(2):148-53. Epub 2003 Feb 15. PMR1/SPCA
Ca2+ pumps and the role of the Golgi apparatus as a Ca2+ store. Ann
N Y Acad Sci. 2003 Apr;986:453-60. Physiological
functions of plasma membrane and intracellular Ca2+ pumps revealed by analysis
of null mutants. J
Biol Chem. 2002 Feb 22;277(8):6422-7. Epub 2001 Dec 6. Functional
expression in yeast of the human secretory pathway Ca(2+), Mn(2+)-ATPase
defective in Hailey-Hailey disease. J
Cutan Pathol. 2001 Jul;28(6):277-81. Upregulation
of P-cadherin expression in the lesional skin of pemphigus, Hailey-Hailey
disease and Darier's disease. J
Biol Chem. 2001 Apr 6;276(14):10683-91. Epub 2000 Dec 29. The
Golgi PMR1 P-type ATPase of Caenorhabditis elegans. Identification of the gene
and demonstration of calcium and manganese transport. Cell
Calcium. 2000 Jul;28(1):1-21. Abnormal
intracellular ca(2+)homeostasis and disease. Hum
Mol Genet. 2000 Apr 12;9(7):1131-40. Hailey-Hailey
disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump. Nat
Genet. 2000 Jan;24(1):61-5. Mutations
in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease.
Verh
K Acad Geneeskd Belg. 2000;62(6):471-99. [Intracellular
calcium: physiology and physiopathology] Br
J Dermatol. 1999 Aug;141(2):224-30. Internalization
of gap junctions in benign familial pemphigus (Hailey-Hailey disease) and
keratosis follicularis (Darier's disease).
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