PMC Links for Gene (Select 27032) - PMC

Maxwell M. G. Geurts, Johannes D. Clausen, Bertrand Arnou, Cédric Montigny, Guillaume Lenoir, Robin A. Corey, Christine Jaxel, Jesper V. Møller, Poul Nissen, Jens Peter Andersen, Marc le Maire, Maike Bublitz

Proc Natl Acad Sci U S A. 2020 Dec 8; 117(49): 31114–31122. Published online 2020 Nov 23. doi: 10.1073/pnas.2014896117

PMCID:: PMC7733806

Abstract Article PDF–4.7M

Select item 75656334.

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

Victoria J. Madigan, Garrett E. Berry, Tyne O. Tyson, Dasean Nardone-White, Jonathan Ark, Zachary C. Elmore, Giridhar Murlidharan, Heather A. Vincent, Aravind Asokan

J Virol. 2020 Nov; 94(21): e01604-20. Prepublished online 2020 Aug 19. Published online 2020 Oct 14. doi: 10.1128/JVI.01604-20

PMCID:: PMC7565633

Abstract Article PDF–2.2M

Select item 71482605.

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

J. Sawicka, A. Kutkowska-Kaźmierczak, K. Woźniak, A. Tysarowski, K. Osipowicz, J. Poznański, A. M. Rygiel, N. Braun-Walicka, K. Niepokój, J. Bal, C. Kowalewski, K. Wertheim-Tysarowska

J Appl Genet. 2020; 61(2): 187–193. Published online 2020 Jan 25. doi: 10.1007/s13353-020-00538-8

PMCID:: PMC7148260

Abstract Article PDF–1.5M

Select item 67122136.

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

Daniel Muncanovic, Mette Heberg Justesen, Sarah Spruce Preisler, Per Amstrup Pedersen

Sci Rep. 2019; 9: 12442. Published online 2019 Aug 27. doi: 10.1038/s41598-019-48866-y

Correction in:: Sci Rep. 2020; 10: 9347.

PMCID:: PMC6712213

Abstract Article PDF–10M

Select item 65146437.

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

Jialin Chen, Susanne Smaardijk, Charles-Alexandre Mattelaer, Filip Pamula, Ilse Vandecaetsbeek, Jo Vanoevelen, Frank Wuytack, Eveline Lescrinier, Jan Eggermont, Peter Vangheluwe

J Biol Chem. 2019 May 10; 294(19): 7878–7891. Published online 2019 Mar 28. doi: 10.1074/jbc.RA118.006250

PMCID:: PMC6514643

Abstract Article PDF–2.9M

Select item 62615038.

Activity of the SPCA1 calcium pump couples sphingomyelin synthesis to sorting of secretory proteins in the trans-Golgi network

Yongqiang Deng, Mehrshad Pakdel, Birgit Blank, Emma L. Sundberg, Christopher G. Burd, Julia von Blume

Dev Cell. Author manuscript; available in PMC 2019 Nov 19.

Published in final edited form as: Dev Cell. 2018 Nov 19; 47(4): 464–478.e8. Published online 2018 Nov 1. doi: 10.1016/j.devcel.2018.10.012

PMCID:: PMC6261503

Abstract Article PDF–2.7M

Select item 59526039.

Diverse viruses require the calcium transporter SPCA1 for maturation and spread

H.-Heinrich Hoffmann, William M Schneider, Vincent A Blomen, Margaret A Scull, Alain Hovnanian, Thijn R Brummelkamp, Charles M Rice

Cell Host Microbe. Author manuscript; available in PMC 2018 Oct 11.

Published in final edited form as: Cell Host Microbe. 2017 Oct 11; 22(4): 460–470.e5. doi: 10.1016/j.chom.2017.09.002

PMCID:: PMC5952603

Abstract Article PDF–1.2M

Select item 568779010.

Identification of 2 Novel Mutations in ATP2C1 Gene in Hailey-Hailey Disease and a Literature Review of Variations in a Chinese Han Population

Kejia Xu, Bingjun Shi, Qingchun Diao, Xue Jiang, Yujuan Xiao

Med Sci Monit Basic Res. 2017; 23: 352–361. Published online 2017 Nov 6. doi: 10.12659/MSMBR.906137

PMCID:: PMC5687790

Abstract Article PDF–3.5M

Select item 540946311.

Structure/activity relationship of thapsigargin inhibition on the purified Golgi/secretory pathway Ca²⁺/Mn²⁺-transport ATPase (SPCA1a)

Jialin Chen, Joren De Raeymaecker, Jannik Brøndsted Hovgaard, Susanne Smaardijk, Ilse Vandecaetsbeek, Frank Wuytack, Jesper Vuust Møller, Jan Eggermont, Marc De Maeyer, Søren Brøgger Christensen, Peter Vangheluwe

J Biol Chem. 2017 Apr 28; 292(17): 6938–6951. Published online 2017 Mar 6. doi: 10.1074/jbc.M117.778431

PMCID:: PMC5409463

Abstract Article PDF–2.5M

Select item 514337712.

ATP2C1 gene mutations in Hailey–Hailey disease and possible roles of SPCA1 isoforms in membrane trafficking

M Micaroni, G Giacchetti, R Plebani, G G Xiao, L Federici

Cell Death Dis. 2016 Jun; 7(6): e2259. Published online 2016 Jun 9. doi: 10.1038/cddis.2016.147

PMCID:: PMC5143377

Abstract Article PDF–2.2M

Select item 438357813.

A Family with Atypical Hailey Hailey Disease- Is There More to the Underlying Genetics than ATP2C1?

Nina van Beek, Aikaterini Patsatsi, Yask Gupta, Steffen Möller, Miriam Freitag, Susanne Lemcke, Andreas Recke, Detlef Zillikens, Enno Schmidt, Saleh Ibrahim

PLoS One. 2015; 10(4): e0121253. Published online 2015 Apr 2. doi: 10.1371/journal.pone.0121253

PMCID:: PMC4383578

Abstract Article PDF–233K

Select item 431992414.

Identification of Several Mutations in ATP2C1 in Lebanese Families: Insight into the Pathogenesis of Hailey-Hailey Disease

Waed Btadini, Ossama K. Abou Hassan, Dana Saadeh, Ossama Abbas, Farah Ballout, Abdul-Ghani Kibbi, Ghassan Dbaibo, Nadine Darwiche, Georges Nemer, Mazen Kurban

PLoS One. 2015; 10(2): e0115530. Published online 2015 Feb 6. doi: 10.1371/journal.pone.0115530

PMCID:: PMC4319924

Abstract Article PDF–2.2M

Select item 387907515.

Hailey-Hailey disease and tight junctions: Claudins 1 and 4 are regulated by ATP2C1 gene encoding Ca²⁺/Mn²⁺ ATPase SPCA1 in cultured keratinocytes

Laura Raiko, Elina Siljamäki, Mỹ G. Mahoney, Heli Putaala, Erkki Suominen, Juha Peltonen, Sirkku Peltonen

Exp Dermatol. Author manuscript; available in PMC 2014 Jan 2.

Published in final edited form as: Exp Dermatol. 2012 Aug; 21(8): 10.1111/j.1600-0625.2012.01520.x. Published online 2012 May 29. doi: 10.1111/j.1600-0625.2012.01520.x

PMCID:: PMC3879075

Abstract Article PDF–1.6M

Select item 302103716.

Identification of a gain-of-function mutation in a Golgi P-type ATPase that enhances Mn²⁺ efflux and protects against toxicity

Somshuvra Mukhopadhyay, Adam D. Linstedt

Proc Natl Acad Sci U S A. 2011 Jan 11; 108(2): 858–863. Published online 2010 Dec 27. doi: 10.1073/pnas.1013642108

PMCID:: PMC3021037

Abstract Article PDF–668K

Select item 288905217.

Unique characteristics of Ca²⁺ homeostasis of the trans-Golgi compartment

Valentina Lissandron, Paola Podini, Paola Pizzo, Tullio Pozzan

Proc Natl Acad Sci U S A. 2010 May 18; 107(20): 9198–9203. Published online 2010 May 3. doi: 10.1073/pnas.1004702107

Correction in:: Proc Natl Acad Sci U S A. 2011 Mar 15; 108(11): 4512.

PMCID:: PMC2889052

Abstract Article PDF–580K

Select item 52574018.

Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept

Pamela Poblete-Gutiérrez, Tonio Wiederholt, Arne König, Frank K. Jugert, Yvonne Marquardt, Albert Rübben, Hans F. Merk, Rudolf Happle, Jorge Frank

J Clin Invest. 2004 Nov 15; 114(10): 1467–1474. doi: 10.1172/JCI21791

PMCID:: PMC525740

Abstract Article PDF–703K

Select item 563351019.

Secretory Pathway Ca²⁺-ATPases Promote In Vitro Microcalcifications in Breast Cancer Cells

Donna Dang, Hari Prasad, Rajini Rao

Mol Carcinog. Author manuscript; available in PMC 2018 Nov 1.

Published in final edited form as: Mol Carcinog. 2017 Nov; 56(11): 2474–2485. Published online 2017 Jul 28. doi: 10.1002/mc.22695

PMCID:: PMC5633510

Abstract Article PDF–825K

Select item 498569920.

The loss of ATP2C1 impairs the DNA damage response and induces altered skin homeostasis: Consequences for epidermal biology in Hailey-Hailey disease

Samantha Cialfi, Loredana Le Pera, Carlo De Blasio, Germano Mariano, Rocco Palermo, Azzurra Zonfrilli, Daniela Uccelletti, Claudio Palleschi, Gianfranco Biolcati, Luca Barbieri, Isabella Screpanti, Claudio Talora

Sci Rep. 2016; 6: 31567. Published online 2016 Aug 16. doi: 10.1038/srep31567