Hailey-Hailey disease – Genetics Home Reference

Behne MJ, Tu CL, Aronchik I, Epstein E, Bench G, Bikle DD, Pozzan T, Mauro TM. Human keratinocyte ATP2C1 localizes to the Golgi and controls Golgi Ca2+ stores. J Devote Dermatol. 2003 Oct121(four):688-94.

Burge SM. Hailey-Hailey condition: the medical attributes, response to therapy and prognosis. Br J Dermatol. 1992 Mar126(three):275-82.

Dobson-Stone C, Fairclough R, Dunne E, Brown J, Dissanayake M, Munro CS, Strachan T, Burge S, Sudbrak R, Monaco AP, Hovnanian A. Hailey-Hailey condition: molecular and medical characterization of novel mutations in the ATP2C1 gene. J Devote Dermatol. 2002 Feb118(2):338-43.

Foggia L, Aronchik I, Aberg K, Brown B, Hovnanian A, Mauro TM. Exercise of the hSPCA1 Golgi Ca2+ pump is crucial for Ca2+-mediated Ca2+ response and cell viability in Darier condition. J Cell Sci. 2006 Feb 15119(Pt four):671-nine.

Hu Z, Bonifas JM, Beech J, Bench G, Shigihara T, Ogawa H, Ikeda S, Mauro T, Epstein EH Jr. Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey condition. Nat Genet. 2000 Jan24(1):sixty one-five.

Lee SE, Lee SH. Skin Barrier and Calcium. Ann Dermatol. 2018 Jun30(three):265-275. doi: ten.5021/ad.2018.30.three.265. Epub 2018 Apr 23. Assessment.

Missiaen L, Raeymaekers L, Dode L, Vanoevelen J, Van Baelen K, Parys JB, Callewaert G, De Smedt H, Segaert S, Wuytack F. SPCA1 pumps and Hailey-Hailey condition. Biochem Biophys Res Commun. 2004 Oct 1322(four):1204-13. Assessment.

Sudbrak R, Brown J, Dobson-Stone C, Carter S, Ramser J, White J, Healy E, Dissanayake M, Larrègue M, Perrussel M, Lehrach H, Munro CS, Strachan T, Burge S, Hovnanian A, Monaco AP. Hailey-Hailey condition is prompted by mutations in ATP2C1 encoding a novel Ca(2+) pump. Hum Mol Genet. 2000 Apr 129(7):1131-40.