Z Hu

Publications (2)38.55 Total impact

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

  Z Hu, J M Bonifas, J Beech, G Bench, T Shigihara, H Ogawa, S Ikeda, T Mauro, E H Epstein
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  ABSTRACT: Hailey-Hailey disease (HHD, MIM 16960) is inherited in an autosomal dominant manner and characterized by persistent blisters and erosions of the skin. Impaired intercellular adhesion and epidermal blistering also occur in individuals with pemphigus (which is due to autoantibodies directed against desmosomal proteins) and in patients with Darier disease (DD, MIM 124200), which is caused by mutations in a gene encoding a sarco/endoplasmic reticulum (ER)-Golgi calcium pump. We report here the identification of mutations in ATP2C1, encoding the human homologue of an ATP-powered pump that sequesters calcium into the Golgi in yeast, in 21 HHD kindreds. Regulation of cytoplasmic calcium is impaired in cultured keratinocytes from HHD patients, and the normal epidermal calcium gradient is attenuated in vivo in HHD patients. Our findings not only provide an understanding of the molecular basis of HHD, but also underscore the importance of calcium control to the functioning of stratified squamous epithelia.
  Nature Genetics 01/2000; 24(1):61-5. · 35.53 Impact Factor
• Article: Narrowing of the Hailey-Hailey disease gene region on chromosome 3q and identification of one kindred with a deletion in this region.

  A M Peluso, J M Bonifas, S Ikeda, Z Hu, S Devries, F Waldman, M Badura, P O'Connell, L Damen, E Epstein
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  ABSTRACT: Hailey-Hailey disease is a cutaneous abnormality transmitted as an autosomal dominant trait in which impaired interkeratinocyte adhesion produces recurrent blisters in characteristic skin sites. We report here a confirmation of the initial mapping of the mutant gene to chromosome 3q in an additional seven kindreds, narrowing of the candidate region to the sequences flanked by D3S1589 and D3S1541, and the finding in one family of a genomic DNA deletion whose centromeric end is located between these two flanking markers.
  Genomics 12/1995; 30(1):77-80. · 3.02 Impact Factor