Expression of SPCA1 (Hailey–Hailey disease gene product) in acantholytic dermatoses

Porgpermdee, Sarawan; Yu, XueBing; Takagi, Atsushi; Mayuzumi, Nobuyasu; Ogawa, Hideoki; Ikeda, Shigaku

doi:10.1016/j.jdermsci.2005.08.007

Cited by 16 publications

(12 citation statements)

References 11 publications

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“…Due to the different sub-cellular location of SERCA2 and SPCA1, SERCA2 positive staining was seen in the cytoplasm of epidermal cells, whereas SPCA1 staining was prominent in the perinuclear aspect of epidermal cells [9]. In the present study, we have confirmed that SERCA2 antibody showed cytoplasmic staining of normal epidermal cells, eccrine secretory ducts, sebaceous glands and hair follicles as previously reported [2].…”

supporting

confidence: 90%

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Expression of SERCA2 (Darier's disease gene product) in acantholytic dermatoses

Porgpermdee

Nakamura

Takagi

et al. 2006

Journal of Dermatological Science

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confidence: 90%

“…In a previous study, we found that the expression of SPCA1 was decreased in involved and uninvolved HHD as well as involved DD [9]. Therefore we postulated that insufficient compensation by SPCA1 or by other molecules related to Ca 2+ metabolism may be involved in the formation or persistence of DD skin lesions.…”

mentioning

confidence: 78%

Expression of SERCA2 (Darier's disease gene product) in acantholytic dermatoses

Porgpermdee

Nakamura

Takagi

et al. 2006

Journal of Dermatological Science

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“…Following the first description of the defect in the SPCA gene, ϳ100 additional mutations were identified, randomly scattered in the gene (300). The mutations downregulate the expression of the SPCA1 pump in the keratinocytes (17,240), a finding that has been confirmed by expressing mutated versions of the SPCA1d pump in model cells (86,87): about half of the mutations produced low levels of SPCA expression (the amount of transcript, however, was normal). In addition to the downregulation, a number of mutants displayed instead deficient binding of Ca 2ϩ and of Mn 2ϩ to the pump, or a dysfunction in the E1-P(Ca 2ϩ ) to E2-P conformational transition in the reaction cycle.…”

Section: The Hailey-hailey's Diseasementioning

confidence: 99%

Calcium Pumps in Health and Disease

Brini¹,

Carafoli²

2009

Physiological Reviews

576

469

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Ca2+-ATPases (pumps) are key actors in the regulation of Ca2+ in eukaryotic cells and are thus essential to the correct functioning of the cell machinery. They have high affinity for Ca2+ and can efficiently regulate it down to very low concentration levels. Two of the pumps have been known for decades (the SERCA and PMCA pumps); one (the SPCA pump) has only become known recently. Each pump is the product of a multigene family, the number of isoforms being further increased by alternative splicing of the primary transcripts. The three pumps share the basic features of the catalytic mechanism but differ in a number of properties related to tissue distribution, regulation, and role in the cellular homeostasis of Ca2+. The molecular understanding of the function of the pumps has received great impetus from the solution of the three-dimensional structure of one of them, the SERCA pump. These spectacular advances in the structure and molecular mechanism of the pumps have been accompanied by the emergence and rapid expansion of the topic of pump malfunction, which has paralleled the rapid expansion of knowledge in the topic of Ca2+-signaling dysfunction. Most of the pump defects described so far are genetic: when they are very severe, they produce gross and global disturbances of Ca2+ homeostasis that are incompatible with cell life. However, pump defects may also be of a type that produce subtler, often tissue-specific disturbances that affect individual components of the Ca2+-controlling and/or processing machinery. They do not bring cells to immediate death but seriously compromise their normal functioning.

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“…Translation, translocation, folding, and processing of adhesional molecule of keratinocyte are closely related with Ca 2+ levels; mutations affecting the Ca 2+ pumps induce histologically acantholysis and dyskeratosis 3 . An earlier study revealed that SERCA2 and SPCA1 staining was less intense than normal in both DD and HHD skin, but SERCA2 was more affected in DD patients and SPCA1 in those with HHD 4 5 . We found that the SERCA2 staining intensity was similar in both tissues, but SPCA1 expression level was much reduced in IFAD compared to normal tissue.…”

mentioning

confidence: 93%