Br J Dermatol. 2004 May;150(5):821-8.

Calcium pumps and keratinocytes: lessons from Darier's disease and Hailey-Hailey disease.

Dhitavat J, Fairclough RJ, Hovnanian A, Burge SM.

Source

INSERM U563, Purpan Hospital, Place du Dr Baylac, 31059 Toulouse cedex 03, France.

Abstract

Darier's disease and Hailey-Hailey disease are autosomal dominantly inherited skin disorders in which desmosomal adhesion between keratinocytes is abnormal. ATP2A2 and ATP2C1 have been identified as the causative genes for Darier's disease and Hailey-Hailey disease, respectively. ATP2A2 encodes the sarco(endo)plasmic reticulum Ca(2+)-ATPase isoform 2 (SERCA2) pump, while ATP2C1 encodes a secretory pathway Ca(2+)/Mn(2+)-ATPase (SPCA1) found in the Golgi apparatus. We review recent work into the function of these pumps in human keratinocytes and discuss how mutations in these genes might cause these diseases by altering the formation or stability of desmosomes.

PMID:: 15149492; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms, Substances

Publication Types

Review

MeSH Terms

Substances

LinkOut - more resources

Full Text Sources

Other Literature Sources

COS Scholar Universe

Medical

Supplemental Content

Save items

Related citations in PubMed

Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump. [Hum Mol Genet. 2000]
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, Larrègue M, Perrussel M, et al. Hum Mol Genet. 2000 Apr 12; 9(7):1131-40.
Review Calcium pump disorders of the skin. [Am J Med Genet C Semin Med Gen...]
Review Calcium pump disorders of the skin.
Foggia L, Hovnanian A. Am J Med Genet C Semin Med Genet. 2004 Nov 15; 131C(1):20-31.
Effects of ultraviolet B irradiation, proinflammatory cytokines and raised extracellular calcium concentration on the expression of ATP2A2 and ATP2C1. [Br J Dermatol. 2005]
Effects of ultraviolet B irradiation, proinflammatory cytokines and raised extracellular calcium concentration on the expression of ATP2A2 and ATP2C1.
Mayuzumi N, Ikeda S, Kawada H, Fan PS, Ogawa H. Br J Dermatol. 2005 Apr; 152(4):697-701.
Effects of drugs and anticytokine antibodies on expression of ATP2A2 and ATP2C1 in cultured normal human keratinocytes. [Br J Dermatol. 2005]
Effects of drugs and anticytokine antibodies on expression of ATP2A2 and ATP2C1 in cultured normal human keratinocytes.
Mayuzumi N, Ikeda S, Kawada H, Ogawa H. Br J Dermatol. 2005 May; 152(5):920-4.
Review SPCA1 pumps and Hailey-Hailey disease. [Biochem Biophys Res Commun. 2004]
Review 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. 2004 Oct 1; 322(4):1204-13.

See reviews... See all...

Cited by 3 PubMed Central articles

The calcium ATPase SERCA2 regulates desmoplakin dynamics and intercellular adhesive strength through modulation of PKCα signaling. [FASEB J. 2011]
The calcium ATPase SERCA2 regulates desmoplakin dynamics and intercellular adhesive strength through modulation of PKCα signaling.
Hobbs RP, Amargo EV, Somasundaram A, Simpson CL, Prakriya M, Denning MF, Green KJ. FASEB J. 2011 Mar; 25(3):990-1001. Epub 2010 Dec 14.
Review The desmosome and pemphigus. [Histochem Cell Biol. 2008]
Review The desmosome and pemphigus.
Waschke J. Histochem Cell Biol. 2008 Jul; 130(1):21-54. Epub 2008 Apr 3.
Review Darier's disease: a calcium-signaling perspective. [Cell Mol Life Sci. 2008]
Review Darier's disease: a calcium-signaling perspective.
Pani B, Singh BB. Cell Mol Life Sci. 2008 Jan; 65(2):205-11.

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Calcium pumps and keratinocytes: lessons from Darier's disease and Hailey-Hailey...
Calcium pumps and keratinocytes: lessons from Darier's disease and Hailey-Hailey disease.
Br J Dermatol. 2004 May ;150(5):821-8.

PubMed
Proteinuria, a target for renoprotection in patients with type 2 diabetic nephro...
Proteinuria, a target for renoprotection in patients with type 2 diabetic nephropathy: lessons from RENAAL.
Kidney Int. 2004 Jun ;65(6):2309-20.

PubMed
Relapse prevention for alcohol and drug problems: that was Zen, this is Tao.
Relapse prevention for alcohol and drug problems: that was Zen, this is Tao.
Am Psychol. 2004 May-Jun ;59(4):224-35.

PubMed
The adenylate cyclase toxin from Bordetella pertussis--a novel promising vehicle...
The adenylate cyclase toxin from Bordetella pertussis--a novel promising vehicle for antigen delivery to dendritic cells.
Int J Med Microbiol. 2004 Apr ;293(7-8):571-6.

PubMed
The psychological dimension of chemical, biological, radiological and nuclear (C...
The psychological dimension of chemical, biological, radiological and nuclear (CBRN) terrorism.
J R Army Med Corps. 2004 Mar ;150(1):3-9.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: