PubMed for id: 27032

Year	Number of Results
1994	1
2000	3
2001	2
2002	5
2003	7
2004	8
2005	8
2006	6
2007	2
2008	7
2009	6
2010	9
2011	6
2012	6
2013	3
2014	5
2015	12
2016	5
2017	13
2018	5
2019	11
2020	10
2021	9
2022	7
2023	4
2024	0

1

Two novel mutations in the ATP2C1 gene found in Japanese patients with Hailey-Hailey disease.

Miyazaki S, Nakano H, Mizuno M, Ozaki S, Hoashi T, Kanda N, Saeki H. Miyazaki S, et al. J Dermatol. 2022 Jun;49(6):656-660. doi: 10.1111/1346-8138.16353. Epub 2022 Mar 10. J Dermatol. 2022. PMID: 35274376

2

Generalized Hailey-Hailey disease: Novel splice-site mutations of ATP2C1 gene in Chinese population and a literature review.

Yang L, Zhang Q, Zhang S, Liu Y, Liu Y, Wang T. Yang L, et al. Mol Genet Genomic Med. 2021 Feb;9(2):e1580. doi: 10.1002/mgg3.1580. Epub 2020 Dec 20. Mol Genet Genomic Med. 2021. PMID: 33345454 Free PMC article. Review.

3

The SERCA residue Glu340 mediates interdomain communication that guides Ca²⁺ transport.

Geurts MMG, Clausen JD, Arnou B, Montigny C, Lenoir G, Corey RA, Jaxel C, Møller JV, Nissen P, Andersen JP, le Maire M, Bublitz M. Geurts MMG, et al. Proc Natl Acad Sci U S A. 2020 Dec 8;117(49):31114-31122. doi: 10.1073/pnas.2014896117. Epub 2020 Nov 23. Proc Natl Acad Sci U S A. 2020. PMID: 33229570 Free PMC article.

4

The Golgi Calcium ATPase Pump Plays an Essential Role in Adeno-associated Virus Trafficking and Transduction.

Madigan VJ, Berry GE, Tyson TO, Nardone-White D, Ark J, Elmore ZC, Murlidharan G, Vincent HA, Asokan A. Madigan VJ, et al. J Virol. 2020 Oct 14;94(21):e01604-20. doi: 10.1128/JVI.01604-20. Print 2020 Oct 14. J Virol. 2020. PMID: 32817219 Free PMC article.

5

SPCA1 governs the stability of TMEM165 in Hailey-Hailey disease.

Roy AS, Miskinyte S, Garat A, Hovnanian A, Krzewinski-Recchi MA, Foulquier F. Roy AS, et al. Biochimie. 2020 Jul;174:159-170. doi: 10.1016/j.biochi.2020.04.017. Epub 2020 Apr 23. Biochimie. 2020. PMID: 32335229

6

Novel and recurrent variants of ATP2C1 identified in patients with Hailey-Hailey disease.

Sawicka J, Kutkowska-Kaźmierczak A, Woźniak K, Tysarowski A, Osipowicz K, Poznański J, Rygiel AM, Braun-Walicka N, Niepokój K, Bal J, Kowalewski C, Wertheim-Tysarowska K. Sawicka J, et al. J Appl Genet. 2020 May;61(2):187-193. doi: 10.1007/s13353-020-00538-8. Epub 2020 Jan 25. J Appl Genet. 2020. PMID: 31983024 Free PMC article.

7

Characterization of Hailey-Hailey Disease-mutants in presence and absence of wild type SPCA1 using Saccharomyces cerevisiae as model organism.

Muncanovic D, Justesen MH, Preisler SS, Pedersen PA. Muncanovic D, et al. Sci Rep. 2019 Aug 27;9(1):12442. doi: 10.1038/s41598-019-48866-y. Sci Rep. 2019. PMID: 31455819 Free PMC article.

8

Review of 52 cases with Hailey-Hailey disease identified 25 novel mutations in Chinese Han population.

Wang Z, Li L, Sun L, Mi Z, Fu F, Yu G, Fu X, Liu H, Zhang F. Wang Z, et al. J Dermatol. 2019 Nov;46(11):1024-1026. doi: 10.1111/1346-8138.15055. Epub 2019 Aug 21. J Dermatol. 2019. PMID: 31435946

9

An N-terminal Ca²⁺-binding motif regulates the secretory pathway Ca²⁺/Mn²⁺-transport ATPase SPCA1.

Chen J, Smaardijk S, Mattelaer CA, Pamula F, Vandecaetsbeek I, Vanoevelen J, Wuytack F, Lescrinier E, Eggermont J, Vangheluwe P. Chen J, et al. J Biol Chem. 2019 May 10;294(19):7878-7891. doi: 10.1074/jbc.RA118.006250. Epub 2019 Mar 28. J Biol Chem. 2019. PMID: 30923126 Free PMC article.

10

Activity of the SPCA1 Calcium Pump Couples Sphingomyelin Synthesis to Sorting of Secretory Proteins in the Trans-Golgi Network.

Deng Y, Pakdel M, Blank B, Sundberg EL, Burd CG, von Blume J. Deng Y, et al. Dev Cell. 2018 Nov 19;47(4):464-478.e8. doi: 10.1016/j.devcel.2018.10.012. Epub 2018 Nov 1. Dev Cell. 2018. PMID: 30393074 Free PMC article.

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