Associated Papers
Cryo-EM structures of human SPCA1a reveal the mechanism of Ca2+/Mn2+ transport into the Golgi apparatus.
Chen Z et al.
Science Advances, 2023
Biometals and glycosylation in humans: Congenital disorders of glycosylation shed lights into the crucial role of Golgi manganese homeostasis.
Foulquier F et al.
Biochimica Et Biophysica Acta. General Subjects, 2020
Characterization of Hailey-Hailey Disease-mutants in presence and absence of wild type SPCA1 using Saccharomyces cerevisiae as model organism.
Muncanovic D et al.
Scientific Reports, 2019
The role of the ATP2C1 gene in Hailey-Hailey disease.
Deng H et al.
Cellular and Molecular Life Sciences : Cmls, 2017
ATP2C1 gene mutations in Hailey-Hailey disease and possible roles of SPCA1 isoforms in membrane trafficking.
Micaroni M et al.
Cell Death & Disease, 2016
Genetic diagnosis in a Chinese Hailey-Hailey disease pedigree with novel ATP2C1 gene mutation.
Ma YM et al.
Archives of Dermatological Research, 2008
[Mutation detection of ATP2C1 gene in Chinese patients with Hailey-Hailey disease].
Li XL et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008
[Identification of a novel mutation in the ATP2C1 gene in a Chinese pedigree with Hailey-Hailey disease].
Zhang ZZ et al.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae, 2007
Novel mutation in ATP2C1 gene in a Japanese patient with Hailey-Hailey disease.
Ohtsuka T et al.
Dermatology (basel, Switzerland), 2006
Hailey-Hailey disease as an orthodisease of PMR1 deficiency in Saccharomyces cerevisiae.
Kellermayer R
Febs Letters, 2005
Expression of Hailey-Hailey disease mutations in yeast.
Ton VK et al.
The Journal of Investigative Dermatology, 2004
[Study on gene mutation in 11 Chinese families with Hailey-Hailey disease].
Li H et al.
Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2003
Effect of Hailey-Hailey Disease mutations on the function of a new variant of human secretory pathway Ca2+/Mn2+-ATPase (hSPCA1).
Fairclough RJ et al.
The Journal of Biological Chemistry, 2003
Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene.
Dobson-Stone C et al.
The Journal of Investigative Dermatology, 2002