Citations for
1ATP2C1, TMEM165
SPCA1 governs the stability of TMEM165 in Hailey-Hailey disease
Roy AS, Miskinyte S, Garat A, Hovnanian A, Krzewinski-Recchi MA, Foulquier F.
Biochimie. Jul;174:159-170. doi: 10.1016/j.biochi.2020.04.017. Epub 2020 Apr 23. 2020
2ATP2C1, TMEM165
Investigating the functional link between TMEM165 and SPCA1
Lebredonchel E, Houdou M, Hoffmann HH, Kondratska K, Krzewinski MA, Vicogne D, Rice CM, Klein A, Foulquier F.
Biochem J. Nov 15;476(21):3281-3293. doi: 10.1042/BCJ20190488. 2019
3ATP2C1, CFL1
Cofilin recruits F-actin to SPCA1 and promotes Ca2+-mediated secretory cargo sorting.
Kienzle C, Basnet N, Crevenna AH, Beck G, Habermann B, Mizuno N, von Blume J.
J Cell Biol 206(5):635-54. doi: 10.1083/jcb.201311052. 2014
4ATP2C1
Identification of a gain-of-function mutation in a Golgi P-type ATPase that enhances Mn2+ efflux and protects against toxicity.
Mukhopadhyay S, Linstedt AD.
Proc Natl Acad Sci U S A 108(2):858-63. Epub 2010 Dec 27. 2011
5ATP2C1, BCPM
Analysis of ATP2C1 gene mutations in Chinese patients with Hailey-Hailey disease.
Zhang HZ, Tian HQ, Du DH, Wang GJ, Yan XX, Liu H, Zhou GZ, Fu XA, Yu YX, Yu GQ, Liu HX, Zhang FR.
Clin Exp Dermatol lin Exp Dermatol. 2011 Aug 25. doi: 10.1111/j.1365-2230.2011.04155.x. [Epub ahead of print] No abstract available. 2011
6ATP2C1, BCPM
A novel missense mutation of the ATP2C1 gene in a Chinese patient with Hailey-Hailey disease.
Cheng Y, Cheng YM, Zhao G, Jia MC.
Biochem Biophys Res Commun 406(3):420-2. Epub 2011 Feb 15. 2011
7ATP2C1, ATP2C2
The secretory pathway Ca(2+)-ATPase 1 is associated with cholesterol-rich microdomains of human colon adenocarcinoma cells.
Baron S, Vangheluwe P, Sepúlveda MR, Wuytack F, Raeymaekers L, Vanoevelen J.
Biochim Biophys Acta 1798(8):1512-21. Epub 2010 Apr 2. 2010
8ATP2C1
The SPCA1 Ca2+ pump and intracellular membrane trafficking.
Micaroni M, Perinetti G, Berrie CP, Mironov AA.
Traffic 11(10):1315-33. doi: 10.1111/j.1600-0854.2010.01096.x. 2010
9ATP2C1, BCPM
Heterogeneous mutations of the ATP2C1 gene causing Hailey-Hailey disease in Hong Kong Chinese.
Cheng TS, Ho KM, Lam CW.
J Eur Acad Dermatol Venereol 24(10):1202-6. doi: 10.1111/j.1468-3083.2010.03623.x. 2010
10ATP2C1
Roles of Ca and secretory pathway Ca-ATPase pump type 1 (SPCA1) in intra-Golgi transport.
Micaroni M, Mironov AA.
Commun Integr Biol 3(6):504-7. Epub 2010 Nov 1. 2010
11ATP2C1
Golgi calcium pump secretory pathway calcium ATPase 1 (SPCA1) is a key regulator of insulin-like growth factor receptor (IGF1R) processing in the basal-like breast cancer cell line MDA-MB-231.
Grice DM, Vetter I, Faddy HM, Kenny PA, Roberts-Thomson SJ, Monteith GR.
J Biol Chem 285(48):37458-66. Epub 2010 Sep 13. 2010
12ATP2C1, ATP2C2
Mammary gland involution is associated with rapid down regulation of major mammary Ca2+-ATPases.
Reinhardt TA, Lippolis JD.
Biochem Biophys Res Commun 378(1):99-102. Epub 2008 Nov 10. 2009
13ATP2C1
Silencing the SPCA1 (secretory pathway Ca2+-ATPase isoform 1) impairs Ca2+ homeostasis in the Golgi and disturbs neural polarity.
Sepúlveda MR, Vanoevelen J, Raeymaekers L, Mata AM, Wuytack F.
J Neurosci 29(39):12174-82. 2009
14ATP2B1, ATP2B2, ATP2C1, ATP2C2
Localization of plasma membrane and secretory calcium pumps in the mammary gland.
Faddy HM, Smart CE, Xu R, Lee GY, Kenny PA, Feng M, Rao R, Brown MA, Bissell MJ, Roberts-Thomson SJ, Monteith GR.
Biochem Biophys Res Commun 369(3):977-81. Epub 2008 Mar 10. 2008
15ATP2C1, BCPM
Genetic diagnosis in a Chinese Hailey-Hailey disease pedigree with novel ATP2C1 gene mutation.
Ma YM, Zhang XJ, Liang YH, Ma L, Sun LD, Zhou FS, Fang QY, Gao M, Yang S, Li YZ.
Arch Dermatol Res 300(4):203-7. Epub 2008 Feb 8.PMID: 18259764 2008
16ATP2C1, BCPM
Diagnosis of Hailey-Hailey disease facilitated by DNA testing: a novel mutation in ATP2C1.
Nemoto-Hasebe I, Akiyama M, Osawa R, Nakamura H, Shimizu H.
Acta Derm Venereol 88(4):399-400. No abstract available. PMID: 18709316 2008
17ATP2C1
Hailey-Hailey disease with affective disorder: report of a case with novel ATP2C1 gene mutation.
Yokota K, Sawamura D.
J Dermatol Sci 43(2):150-1. Epub 2006 Apr 27. No abstract available. 2006
18ATP2C1, BCPM
Two novel mutations of the ATP2C1 gene in Chinese families with Hailey-Hailey disease.
Zhu YG, Yang S, Gao M, Chen JJ, Li W, Wang PG, Zhou HL, Zhao XY, Ren YQ, Xiao FL, Du WH, Zhang XJ, Zhou FS, Shen YJ.
J Dermatol Sci 42(2):125-7. Epub 2006 Mar 15. No abstract available. 2006
19ATP2C1, BCPM
Novel mutation in ATP2C1 gene in a Japanese patient with Hailey-Hailey disease.
Ohtsuka T, Okita H, Hama N, Yamazaki S.
Dermatology 212(2):194-7. 2006
20ATP2C1, BCPM
ATP2C1 is specifically localized in the basal layer of normal epidermis and its depletion triggers keratinocyte differentiation.
Yoshida M, Yamasaki K, Daiho T, Iizuka H, Suzuki H.
J Dermatol Sci 43(1):21-33. Epub 2006 Apr 18. 2006
21ATP2C1, ATP2C2
Dissection of the functional differences between human secretory pathway Ca2+/Mn2+-ATPase (SPCA) 1 and 2 isoenzymes by steady-state and transient kinetic analyses.
Dode L, Andersen JP, Vanoevelen J, Raeymaekers L, Missiaen L, Vilsen B, Wuytack F.
J Biol Chem 281(6):3182-9. Epub 2005 Dec 6. 2006
22ATP2C1, BCPM
Deficiency of ATP2C1, a Golgi ion pump, induces secretory pathway defects in endoplasmic reticulum (ER)-associated degradation and sensitivity to ER stress.
Ramos-Castaneda J, Park YN, Liu M, Hauser K, Rudolph H, Shull GE, Jonkman MF, Mori K, Ikeda S, Ogawa H, Arvan P.
J Biol Chem 280(10):9467-73. Epub 2004 Dec 28. 2005
23ATP2C1, ATP2C2
A novel isoform of the secretory pathway Ca2+,Mn(2+)-ATPase, hSPCA2, has unusual properties and is expressed in the brain.
Xiang M, Mohamalawari D, Rao R.
J Biol Chem 280(12):11608-14. Epub 2005 Jan 27. 2005
24ATP2C1, BCPM
SPCA1 pumps and Hailey-Hailey disease.
Missiaen L, Raeymaekers L, Dode L, Vanoevelen J, Van Baelen K, Parys JB, Callewaert G, De Smedt H, Segaert S, Wuytack F.
Biochem Biophys Res Commun 322(4):1204-13. Review. 2004
25ATP2C1, BCPM
Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept.
Poblete-Gutierrez P, Wiederholt T, Konig A, Jugert FK, Marquardt Y, Rubben A, Merk HF, Happle R, Frank J.
J Clin Invest 114(10):1467-74. 2004
26ATP2C1, BCPM
Four novel mutations in ATP2C1 found in Chinese patients with Hailey-Hailey disease.
Li H, Sun XK, Zhu XJ.
Br J Dermatol 149(3):471-4. 2003
27ATP2C1, BCPM
Human keratinocyte ATP2C1 localizes to the Golgi and controls Golgi Ca2+ stores.
Behne MJ, Tu CL, Aronchik I, Epstein E, Bench G, Bikle DD, Pozzan T, Mauro TM.
J Invest Dermatol 121(4):688-94. 2003
28ATP2C1, BCPM
Mutation analysis of ATP2C1 gene in Taiwanese patients with Hailey-Hailey disease.
Chao SC, Tsai YM, Yang MH.
Br J Dermatol 146(4):595-600. 2002
29ATP2C1, BCPM
Mutations in ATP2C1, encoding a calcium pump, cause hailey-hailey disease.
Hu Z, Bonifas JM, Beech J, Bench G, Shigihara T, Ogawa H, Ikeda S, Mauro T, Epstein EH Jr.
Nat Genet 24(1):61-5 2000
30ATP2C1, BCPM
Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump.
Sudbrak R, Brown J, Dobson-Stone C, Carter S, Ramser J, White J, Healy E, Dissanayake M, Larregue M, Perrussel M, Lehrach H, Munro CS, Strachan T, Burge S, Hovnanian A, Monaco AP.
Hum Mol Genet 9(7):1131-40. 2000
31ATP2A2, ATP2C1
The plasma membrane calcium pump: recent developments and future perspectives.
Carafoli E, Garcia-Martin E, Guerini D.
Experientia 52(12):1091-100. Review. 1996