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Select item 98294651.

Manganese efflux transporter SLC30A10 missense polymorphism T95I associated with liver injury retains manganese efflux activity

Kerem C. Gurol, Danyang Li, Karin Broberg, Somshuvra Mukhopadhyay

Am J Physiol Gastrointest Liver Physiol. 2023 Jan 1; 324(1): G78–G88. Published online 2022 Nov 22. doi: 10.1152/ajpgi.00213.2022

PMCID:: PMC9829465

Abstract Article

Select item 83164332.

GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms

Lucas D. Ward, Ho-Chou Tu, Chelsea B. Quenneville, Shira Tsour, Alexander O. Flynn-Carroll, Margaret M. Parker, Aimee M. Deaton, Patrick A. J. Haslett, Luca A. Lotta, Niek Verweij, Manuel A. R. Ferreira, Regeneron Genetics Center, Geisinger-Regeneron DiscovEHR Collaboration, Aris Baras, Gregory Hinkle, Paul Nioi

Nat Commun. 2021; 12: 4571. Published online 2021 Jul 27. doi: 10.1038/s41467-021-24563-1

PMCID:: PMC8316433

Abstract Article PDF–4.3M

Select item 82043493.

Characterization of in vitro models of SLC30A10 deficiency

Milankumar Prajapati, Michael A. Pettiglio, Heather L. Conboy, Courtney J. Mercadante, Shintaro Hojyo, Toshiyuki Fukada, Thomas B. Bartnikas

Biometals. Author manuscript; available in PMC 2022 Jun 1.

Published in final edited form as: Biometals. 2021 Jun; 34(3): 573–588. Published online 2021 Mar 13. doi: 10.1007/s10534-021-00296-y

PMCID:: PMC8204349

Abstract Article PDF–1.3M

Select item 73722224.

Genome-wide and Mendelian randomisation studies of liver MRI yield insights into the pathogenesis of steatohepatitis

Constantinos A. Parisinos, Henry R. Wilman, E. Louise Thomas, Matt Kelly, Rowan C. Nicholls, John McGonigle, Stefan Neubauer, Aroon D. Hingorani, Riyaz S. Patel, Harry Hemingway, Jimmy D. Bell, Rajarshi Banerjee, Hanieh Yaghootkar

J Hepatol. 2020 Aug; 73(2): 241–251. doi: 10.1016/j.jhep.2020.03.032

Correction in:: J Hepatol. 2020 Dec; 73(6): 1594–1595.

PMCID:: PMC7372222

Abstract Article PDF–1.3M

Select item 72466575.

The Functions of ZIP8, ZIP14, and ZnT10 in the Regulation of Systemic Manganese Homeostasis

James W.W. Winslow, Kirsten H. Limesand, Ningning Zhao

Int J Mol Sci. 2020 May; 21(9): 3304. Published online 2020 May 7. doi: 10.3390/ijms21093304

PMCID:: PMC7246657

Abstract Article PDF–1.3M

Select item 66152356.

A case of dystonia with polycythemia and hypermanganesemia caused by SLC30A10 mutation: a treatable inborn error of manganese metabolism

Azita Tavasoli, Khadije Arjmandi Rafsanjani, Saba Hemmati, Marziyeh Mojbafan, Elham Zarei, Soudabeh Hosseini

BMC Pediatr. 2019; 19: 229. Published online 2019 Jul 9. doi: 10.1186/s12887-019-1611-7

PMCID:: PMC6615235

Abstract Article PDF–1.5M

Select item 64651797.

SLC30A10 mutation involved in parkinsonism results in manganese accumulation within nano-vesicles of the Golgi apparatus

Asuncion Carmona, Charles E. Zogzas, Stéphane Roudeau, Francesco Porcaro, Jan Garrevoet, Kathryn M. Spiers, Murielle Salomé, Peter Cloetens, Somshuvra Mukhopadhyay, Richard Ortega

ACS Chem Neurosci. Author manuscript; available in PMC 2020 Jan 16.

Published in final edited form as: ACS Chem Neurosci. 2019 Jan 16; 10(1): 599–609. Published online 2018 Oct 15. doi: 10.1021/acschemneuro.8b00451

PMCID:: PMC6465179

Abstract Article PDF–1.5M

Select item 64637158.

Zinc transporter 10 (ZnT10)-dependent extrusion of cellular Mn²⁺ is driven by an active Ca²⁺-coupled exchange

Moshe Levy, Nadav Elkoshi, Shiran Barber-Zucker, Eitan Hoch, Raz Zarivach, Michal Hershfinkel, Israel Sekler

J Biol Chem. 2019 Apr 12; 294(15): 5879–5889. Published online 2019 Feb 12. doi: 10.1074/jbc.RA118.006816

PMCID:: PMC6463715

Abstract Article PDF–2.3M

Select item 60536729.

Polymorphisms in manganese transporters show developmental stage and sex specific associations with manganese concentrations in primary teeth

Karin Wahlberg, Manish Arora, Austen Curtin, Paul Curtin, Robert O. Wright, Donald R. Smith, Roberto G. Lucchini, Karin Broberg, Christine Austin

Neurotoxicology. Author manuscript; available in PMC 2018 Jul 20.

Published in final edited form as: Neurotoxicology. 2018 Jan; 64: 103–109. Published online 2017 Sep 13. doi: 10.1016/j.neuro.2017.09.003

PMCID:: PMC6053672

Abstract Article PDF–402K

Select item 579904410.

Familial manganese-induced neurotoxicity due to mutations in SLC30A10 or SLC39A14

Somshuvra Mukhopadhyay

Neurotoxicology. Author manuscript; available in PMC 2019 Jan 1.

Published in final edited form as: Neurotoxicology. 2018 Jan; 64: 278–283. Published online 2017 Aug 5. doi: 10.1016/j.neuro.2017.07.030

PMCID:: PMC5799044

Abstract Article PDF–282K

Select item 552441511.

Zebrafish slc30a10 deficiency revealed a novel compensatory mechanism of Atp2c1 in maintaining manganese homeostasis

Zhidan Xia, Jiayu Wei, Yingniang Li, Jia Wang, Wenwen Li, Kai Wang, Xiaoli Hong, Lu Zhao, Caiyong Chen, Junxia Min, Fudi Wang

PLoS Genet. 2017 Jul; 13(7): e1006892. Published online 2017 Jul 10. doi: 10.1371/journal.pgen.1006892

PMCID:: PMC5524415

Abstract Article PDF–13M

Select item 499404712.

Disease-Homologous Mutation in the Cation Diffusion Facilitator Protein MamM Causes Single-Domain Structural Loss and Signifies Its Importance

Shiran Barber-Zucker, René Uebe, Geula Davidov, Yotam Navon, Dror Sherf, Jordan H. Chill, Itamar Kass, Ronit Bitton, Dirk Schüler, Raz Zarivach

Sci Rep. 2016; 6: 31933. Published online 2016 Aug 23. doi: 10.1038/srep31933

PMCID:: PMC4994047

Abstract Article PDF–1.3M

Select item 496554713.

Structural Elements in the Transmembrane and Cytoplasmic Domains of the Metal Transporter SLC30A10 Are Required for Its Manganese Efflux Activity

Charles E. Zogzas, Michael Aschner, Somshuvra Mukhopadhyay

J Biol Chem. 2016 Jul 29; 291(31): 15940–15957. Published online 2016 Jun 15. doi: 10.1074/jbc.M116.726935

PMCID:: PMC4965547

Abstract Article PDF–3.7M

Select item 493819414.

Direct Comparison of Manganese Detoxification/Efflux Proteins and Molecular Characterization of ZnT10 Protein as a Manganese Transporter

Yukina Nishito, Natsuko Tsuji, Hitomi Fujishiro, Taka-aki Takeda, Tomohiro Yamazaki, Fumie Teranishi, Fumiko Okazaki, Ayu Matsunaga, Karin Tuschl, Rajini Rao, Satoshi Kono, Hiroaki Miyajima, Hiroshi Narita, Seiichiro Himeno, Taiho Kambe

J Biol Chem. 2016 Jul 8; 291(28): 14773–14787. Published online 2016 May 10. doi: 10.1074/jbc.M116.728014

PMCID:: PMC4938194

Abstract Article PDF–3.4M

Select item 472561215.

Common Polymorphisms in the Solute Carrier SLC30A10 are Associated With Blood Manganese and Neurological Function

Karin Wahlberg, Maria Kippler, Ayman Alhamdow, Syed Moshfiqur Rahman, Donald R. Smith, Marie Vahter, Roberto G. Lucchini, Karin Broberg

Toxicol Sci. 2016 Feb; 149(2): 473–483. Published online 2015 Dec 1. doi: 10.1093/toxsci/kfv252

PMCID:: PMC4725612

Abstract Article PDF–489K

Select item 419854616.

SLC30A10 Is a Cell Surface-Localized Manganese Efflux Transporter, and Parkinsonism-Causing Mutations Block Its Intracellular Trafficking and Efflux Activity

Dinorah Leyva-Illades, Pan Chen, Charles E. Zogzas, Steven Hutchens, Jonathan M. Mercado, Caleb D. Swaim, Richard A. Morrisett, Aaron B. Bowman, Michael Aschner, Somshuvra Mukhopadhyay

J Neurosci. 2014 Oct 15; 34(42): 14079–14095. doi: 10.1523/JNEUROSCI.2329-14.2014

PMCID:: PMC4198546

Abstract Article PDF–3.4M

Select item 367499317.

Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits

Joshua C. Randall, Thomas W. Winkler, Zoltán Kutalik, Sonja I. Berndt, Anne U. Jackson, Keri L. Monda, Tuomas O. Kilpeläinen, Tõnu Esko, Reedik Mägi, Shengxu Li, Tsegaselassie Workalemahu, Mary F. Feitosa, Damien C. Croteau-Chonka, Felix R. Day, Tove Fall, Teresa Ferreira, Stefan Gustafsson, Adam E. Locke, Iain Mathieson, Andre Scherag, Sailaja Vedantam, Andrew R. Wood, Liming Liang, Valgerdur Steinthorsdottir, Gudmar Thorleifsson, Emmanouil T. Dermitzakis, Antigone S. Dimas, Fredrik Karpe, Josine L. Min, George Nicholson, Deborah J. Clegg, Thomas Person, Jon P. Krohn, Sabrina Bauer, Christa Buechler, Kristina Eisinger, DIAGRAM Consortium, Amélie Bonnefond, Philippe Froguel, MAGIC Investigators, Jouke-Jan Hottenga, Inga Prokopenko, Lindsay L. Waite, Tamara B. Harris, Albert Vernon Smith, Alan R. Shuldiner, Wendy L. McArdle, Mark J. Caulfield, Patricia B. Munroe, Henrik Grönberg, Yii-Der Ida Chen, Guo Li, Jacques S. Beckmann, Toby Johnson, Unnur Thorsteinsdottir, Maris Teder-Laving, Kay-Tee Khaw, Nicholas J. Wareham, Jing Hua Zhao, Najaf Amin, Ben A. Oostra, Aldi T. Kraja, Michael A. Province, L. Adrienne Cupples, Nancy L. Heard-Costa, Jaakko Kaprio, Samuli Ripatti, Ida Surakka, Francis S. Collins, Jouko Saramies, Jaakko Tuomilehto, Antti Jula, Veikko Salomaa, Jeanette Erdmann, Christian Hengstenberg, Christina Loley, Heribert Schunkert, Claudia Lamina, H. Erich Wichmann, Eva Albrecht, Christian Gieger, Andrew A. Hicks, Åsa Johansson, Peter P. Pramstaller, Sekar Kathiresan, Elizabeth K. Speliotes, Brenda Penninx, Anna-Liisa Hartikainen, Marjo-Riitta Jarvelin, Ulf Gyllensten, Dorret I. Boomsma, Harry Campbell, James F. Wilson, Stephen J. Chanock, Martin Farrall, Anuj Goel, Carolina Medina-Gomez, Fernando Rivadeneira, Karol Estrada, André G. Uitterlinden, Albert Hofman, M. Carola Zillikens, Martin den Heijer, Lambertus A. Kiemeney, Andrea Maschio, Per Hall, Jonathan Tyrer, Alexander Teumer, Henry Völzke, Peter Kovacs, Anke Tönjes, Massimo Mangino, Tim D. Spector, Caroline Hayward, Igor Rudan, Alistair S. Hall, Nilesh J. Samani, Antony Paul Attwood, Jennifer G. Sambrook, Joseph Hung, Lyle J. Palmer, Marja-Liisa Lokki, Juha Sinisalo, Gabrielle Boucher, Heikki Huikuri, Mattias Lorentzon, Claes Ohlsson, Niina Eklund, Johan G. Eriksson, Cristina Barlassina, Carlo Rivolta, Ilja M. Nolte, Harold Snieder, Melanie M. Van der Klauw, Jana V. Van Vliet-Ostaptchouk, Pablo V. Gejman, Jianxin Shi, Kevin B. Jacobs, Zhaoming Wang, Stephan J. L. Bakker, Irene Mateo Leach, Gerjan Navis, Pim van der Harst, Nicholas G. Martin, Sarah E. Medland, Grant W. Montgomery, Jian Yang, Daniel I. Chasman, Paul M. Ridker, Lynda M. Rose, Terho Lehtimäki, Olli Raitakari, Devin Absher, Carlos Iribarren, Hanneke Basart, Kees G. Hovingh, Elina Hyppönen, Chris Power, Denise Anderson, John P. Beilby, Jennie Hui, Jennifer Jolley, Hendrik Sager, Stefan R. Bornstein, Peter E. H. Schwarz, Kati Kristiansson, Markus Perola, Jaana Lindström, Amy J. Swift, Matti Uusitupa, Mustafa Atalay, Timo A. Lakka, Rainer Rauramaa, Jennifer L. Bolton, Gerry Fowkes, Ross M. Fraser, Jackie F. Price, Krista Fischer, Kaarel KrjutÅ¡kov, Andres Metspalu, Evelin Mihailov, Claudia Langenberg, Jian'an Luan, Ken K. Ong, Peter S. Chines, Sirkka M. Keinanen-Kiukaanniemi, Timo E. Saaristo, Sarah Edkins, Paul W. Franks, Göran Hallmans, Dmitry Shungin, Andrew David Morris, Colin N. A. Palmer, Raimund Erbel, Susanne Moebus, Markus M. Nöthen, Sonali Pechlivanis, Kristian Hveem, Narisu Narisu, Anders Hamsten, Steve E. Humphries, Rona J. Strawbridge, Elena Tremoli, Harald Grallert, Barbara Thorand, Thomas Illig, Wolfgang Koenig, Martina Müller-Nurasyid, Annette Peters, Bernhard O. Boehm, Marcus E. Kleber, Winfried März, Bernhard R. Winkelmann, Johanna Kuusisto, Markku Laakso, Dominique Arveiler, Giancarlo Cesana, Kari Kuulasmaa, Jarmo Virtamo, John W. G. Yarnell, Diana Kuh, Andrew Wong, Lars Lind, Ulf de Faire, Bruna Gigante, Patrik K. E. Magnusson, Nancy L. Pedersen, George Dedoussis, Maria Dimitriou, Genovefa Kolovou, Stavroula Kanoni, Kathleen Stirrups, Lori L. Bonnycastle, Inger Njølstad, Tom Wilsgaard, Andrea Ganna, Emil Rehnberg, Aroon Hingorani, Mika Kivimaki, Meena Kumari, Themistocles L. Assimes, Inês Barroso, Michael Boehnke, Ingrid B. Borecki, Panos Deloukas, Caroline S. Fox, Timothy Frayling, Leif C. Groop, Talin Haritunians, David Hunter, Erik Ingelsson, Robert Kaplan, Karen L. Mohlke, Jeffrey R. O'Connell, David Schlessinger, David P. Strachan, Kari Stefansson, Cornelia M. van Duijn, Gonçalo R. Abecasis, Mark I. McCarthy, Joel N. Hirschhorn, Lu Qi, Ruth J. F. Loos, Cecilia M. Lindgren, Kari E. North, Iris M. Heid

PLoS Genet. 2013 Jun; 9(6): e1003500. Published online 2013 Jun 6. doi: 10.1371/journal.pgen.1003500

PMCID:: PMC3674993

Abstract Article PDF–2.9M

Select item 366926618.

Altered Expression of ZnT10 in Alzheimer's Disease Brain

Helen J. Bosomworth, Paul A. Adlard, Dianne Ford, Ruth A. Valentine

PLoS One. 2013; 8(5): e65475. Published online 2013 May 31. doi: 10.1371/journal.pone.0065475

PMCID:: PMC3669266

Abstract Article PDF–195K

Select item 359453819.

Manganese Efflux in Parkinsonism: Insights from Newly Characterized SLC30A10 Mutations

Margaret R. DeWitt, Pan Chen, Michael Aschner

Biochem Biophys Res Commun. Author manuscript; available in PMC 2014 Mar 1.

Published in final edited form as: Biochem Biophys Res Commun. 2013 Mar 1; 432(1): 1–4. Published online 2013 Jan 26. doi: 10.1016/j.bbrc.2013.01.058

PMCID:: PMC3594538

Abstract Article PDF–290K

Select item 330920420.

Mutations in SLC30A10 Cause Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease

Marialuisa Quadri, Antonio Federico, Tianna Zhao, Guido J. Breedveld, Carla Battisti, Cathérine Delnooz, Lies-Anne Severijnen, Lara Di Toro Mammarella, Andrea Mignarri, Lucia Monti, Antioco Sanna, Peng Lu, Francesca Punzo, Giovanni Cossu, Rob Willemsen, Fabrizio Rasi, Ben A. Oostra, Bart P. van de Warrenburg, Vincenzo Bonifati

Am J Hum Genet. 2012 Mar 9; 90(3): 467–477. doi: 10.1016/j.ajhg.2012.01.017

PMCID:: PMC3309204

Abstract Article PDF–1.5M

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