Teye, Kwesi Koga, Hiroshi Hamada, Takahiro Matsuda, Mitsuhiro Ichiki, Mikio Numata, Sanae Ishii, Norito Nakama, Takekuni
Published in
Frontiers in medicine
Hailey-Hailey disease (HHD) is genetic skin disorder characterized by repeated and exacerbated skin lesions in friction regions. ATP2C1, encoding SPCA1, was demonstrated to be the responsible gene for HHD pathogenesis. However, for some cases, no ATP2C1 mutation could be determined by standard Sanger sequencing, thereby obscuring the cause and diag...
Lebredonchel, Elodie Houdou, Marine Hoffmann, Hans-Heinrich Kondratska, Kateryna Krzewinski, Marie-Ange Vicogne, Dorothée Rice, Charles M Klein, André Foulquier, François
Published in
The Biochemical journal
TMEM165 was highlighted in 2012 as the first member of the Uncharacterized Protein Family 0016 (UPF0016) related to human glycosylation diseases. Defects in TMEM165 are associated with strong Golgi glycosylation abnormalities. Our previous work has shown that TMEM165 rapidly degrades with supraphysiological manganese supplementation. In this paper,...
Deng, Yongqiang Pakdel, Mehrshad Blank, Birgit Sundberg, Emma L. Burd, Christopher G. von Blume, Julia
Published in
Developmental cell
Hoffmann, H-Heinrich Schneider, William M Blomen, Vincent A Scull, Margaret A Hovnanian, Alain Brummelkamp, Thijn R Rice, Charles M
Published in
Cell host & microbe
Respiratory and arthropod-borne viral infections are a global threat due to the lack of effective antivirals and vaccines. A potential strategy is to target host proteins required for viruses but non-essential for the host. To identify such proteins, we performed a genome-wide knockout screen in human haploid cells and identified the calcium pump S...
Nellen, Ruud G L Steijlen, Peter M van Steensel, Maurice A M Vreeburg, Maaike Frank, Jorge van Geel, Michel
Published in
Human mutation
The two disorders of cornification associated with mutations in genes coding for intracellular calcium pumps are Darier disease (DD) and Hailey-Hailey disease (HHD). DD is caused by mutations in the ATP2A2 gene, whereas the ATP2C1 gene is associated with HHD. Both are inherited as autosomal-dominant traits. DD is mainly defined by warty papules in ...
Nishito, Yukina Tsuji, Natsuko Fujishiro, Hitomi Takeda, Taka-aki Yamazaki, Tomohiro Teranishi, Fumie Okazaki, Fumiko Matsunaga, Ayu Tuschl, Karin Rao, Rajini
...
Manganese (Mn) homeostasis involves coordinated regulation of specific proteins involved in Mn influx and efflux. However, the proteins that are involved in detoxification/efflux have not been completely resolved, nor has the basis by which they select their metal substrate. Here, we compared six proteins, which were reported to be involved in Mn d...
Fan, Yongmei Zhang, Changjie Peng, Wenna Li, Ting Yin, Jing Kong, Ying Lan, Chunna Li, Xiaofang Wang, Rumi Hu, Zhiping
...
Published in
Brain research
The present study was designed to investigate the potential role of secretory pathway Ca(2+)-ATPase isoform 1(SPCA1) in experimental focal cerebral ischemia-reperfusion injury. Cerebral ischemia-reperfusion was induced by transient middle cerebral artery occlusion (MCAO) for 2h s in Sprague-Dawley rats, and then the expression levels of SPAC1 mRNA ...
Fan, Yongmei Zhang, Changjie Li, Ting Peng, Wenna Yin, Jing Li, Xiaofao Kong, Ying Lan, Chunna Wang, Rumi Hu, Zhiping
...
Published in
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association
Our data indicate that SW can be protected against focal cerebral I/R injury, and the influence on Golgi apparatus stress might provide us a new perspective in further study. To the authors' knowledge, this is the first report using SW to increase expression of SPCA1 indicating modulate Golgi apparatus stress in MCAO and reperfusion model.
Zhang, Dingwei Li, Xiaoli Wang, Zhenghui Zhang, Yanfei Guo, Kun Wang, Shuang Tu, Chen Huo, Jia Xiao, Shengxiang
Published in
Archives of Dermatological Research
Hailey–Hailey disease (HHD) is caused by heterozygous mutations in the ATP2C1 gene, encoding the secretory pathway Ca2+ ATPase1 (SPCA1). SPCA1 and sarco/endoplasmic reticulum Ca2+ ATPase2 (SERCA2) encoded by ATP2A2 are two essential calcium pumps needed for Ca2+ homeostasis maintenance in keratinocytes. ATP2A2 mutations cause another hereditary ski...
Reinhardt, Timothy A. Lippolis, John D. Sacco, Randy E.
Published in
Biochemical and Biophysical Research Communications
Plasma membrane Ca2+-ATPase 2 (PMCA2) knockout mice showed that ∼60% of calcium in milk is transported across the mammary cells apical membrane by PMCA2. The remaining milk calcium is thought to arrive via the secretory pathway through the actions of secretory pathway Ca2+-ATPase’s 1 and/or 2 (SPCA1 and 2). However, another secretory pathway calciu...
