Abnormal intracellular ca(2+)homeostasis and disease.

Cell Calcium. 2000 Jul;28(1):1-21. Missiaen L, Robberecht W, van den Bosch L, Callewaert G, Parys JB, Wuytack F, Raeymaekers L, Nilius B, Eggermont J, De Smedt H. Source Laboratory of Physiology, K.U.Leuven Campus Gasthuisberg O/N, Leuven, Belgium. [email protected] Abstract A whole range of cell functions are regulated by the free … Read More

Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump.

Hum Mol Genet. 2000 Apr 12;9(7):1131-40. 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. Source Max-Planck-Institut für Molekulare Genetik, D-14195 Berlin, Germany. Abstract Hailey-Hailey disease (HHD) is an autosomal dominant skin disorder … Read More

Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease.

Nat Genet. 2000 Jan;24(1):61-5. Hu Z, Bonifas JM, Beech J, Bench G, Shigihara T, Ogawa H, Ikeda S, Mauro T, Epstein EH Jr. Source Department of Dermatology, San Francisco General Hospital, University of California at San Francisco, San Francisco, California, USA. Abstract Hailey-Hailey disease (HHD, MIM 16960) is inherited … Read More