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Select item 109176601.

Genetic determinants of micronucleus formation in vivo

D. J. Adams, B. Barlas, R. E. McIntyre, I. Salguero, L. van der Weyden, A. Barros, J. R. Vicente, N. Karimpour, A. Haider, M. Ranzani, G. Turner, N. A. Thompson, V. Harle, R. Olvera-León, C. D. Robles-Espinoza, A. O. Speak, N. Geisler, W. J. Weninger, S. H. Geyer, J. Hewinson, N. A. Karp, The Sanger Mouse Genetics Project, B. Fu, F. Yang, Z. Kozik, J. Choudhary, L. Yu, M. S. van Ruiten, B. D. Rowland, C. J. Lelliott, M. del Castillo Velasco-Herrera, R. Verstraten, L. Bruckner, A. G. Henssen, M. A. Rooimans, J. de Lange, T. J. Mohun, M. J. Arends, K. A. Kentistou, P. A. Coelho, Y. Zhao, H. Zecchini, J. R. B. Perry, S. P. Jackson, G. Balmus

Nature. 2024; 627(8002): 130–136. Published online 2024 Feb 14. doi: 10.1038/s41586-023-07009-0

PMCID:: PMC10917660

Abstract Article PDF–4.8M

Select item 98406142.

A gain-of-function TPC2 variant R210C increases affinity to PI(3,5)P₂ and causes lysosome acidification and hypopigmentation

Qiaochu Wang, Zengge Wang, Yizhen Wang, Zhan Qi, Dayong Bai, Chentong Wang, Yuanying Chen, Wenjian Xu, Xili Zhu, Jaepyo Jeon, Jian Xiong, Chanjuan Hao, Michael Xi Zhu, Aihua Wei, Wei Li

Nat Commun. 2023; 14: 226. Published online 2023 Jan 14. doi: 10.1038/s41467-023-35786-9

PMCID:: PMC9840614

Abstract Article PDF–5.0M

Select item 94496003.

TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann–Pick type C1, and Batten disease

Anna Scotto Rosato, Einar K Krogsaeter, Dawid Jaślan, Carla Abrahamian, Sandro Montefusco, Chiara Soldati, Barbara Spix, Maria Teresa Pizzo, Giuseppina Grieco, Julia Böck, Amanda Wyatt, Daniela Wünkhaus, Marcel Passon, Marc Stieglitz, Marco Keller, Guido Hermey, Sandra Markmann, Doris Gruber‐Schoffnegger, Susan Cotman, Ludger Johannes, Dennis Crusius, Ulrich Boehm, Christian Wahl‐Schott, Martin Biel, Franz Bracher, Elvira De Leonibus, Elena Polishchuk, Diego L Medina, Dominik Paquet, Christian Grimm

EMBO Mol Med. 2022 Sep; 14(9): e15377. Published online 2022 Aug 5. doi: 10.15252/emmm.202115377

PMCID:: PMC9449600

Abstract Article PDF–26M

Select item 93129044.

Unexpected Motherhood-Triggered Hearing Loss in the Two-Pore Channel (TPC) Mutant Mouse

Juliette Royer, José-Manuel Cancela, Jean-Marc Edeline

Biomedicines. 2022 Jul; 10(7): 1708. Published online 2022 Jul 15. doi: 10.3390/biomedicines10071708

PMCID:: PMC9312904

Abstract Article PDF–1.3M

Select item 83216715.

TPC2 promotes choroidal angiogenesis and inflammation in a mouse model of neovascular age-related macular degeneration

Yanfen Li, Christian Schön, Cheng-Chang Chen, Zhuo Yang, Raffael Liegl, Elisa Murenu, Benedikt Schworm, Norbert Klugbauer, Christian Grimm, Christian Wahl-Schott, Stylianos Michalakis, Martin Biel

Life Sci Alliance. 2021 Aug; 4(8): e202101047. Published online 2021 Jun 28. doi: 10.26508/lsa.202101047

PMCID:: PMC8321671

Abstract Article PDF–2.7M

Select item 81187126.

Lipid-gated monovalent ion fluxes regulate endocytic traffic and support immune surveillance

Spencer A. Freeman, Stefan Uderhardt, Amra Saric, Richard F. Collins, Catherine M. Buckley, Sivakami Mylvaganam, Parastoo Boroumand, Jonathan Plumb, Ronald N. Germain, Dejian Ren, Sergio Grinstein

Science. Author manuscript; available in PMC 2021 May 13.

Published in final edited form as: Science. 2020 Jan 17; 367(6475): 301–305. Published online 2019 Dec 5. doi: 10.1126/science.aaw9544

PMCID:: PMC8118712

Abstract Article PDF–1.5M

Select item 79387707.

BraInMap elucidates the macromolecular connectivity landscape of mammalian brain

Reza Pourhaghighi, Peter E. A. Ash, Sadhna Phanse, Florian Goebels, Lucas Z. M. Hu, Siwei Chen, Yingying Zhang, Shayne D. Wierbowski, Samantha Boudeau, Mohamed T. Moutaoufik, Ramy H. Malty, Edyta Malolepsza, Kalliopi Tsafou, Aparna Nathan, Graham Cromar, Hongbo Guo, Ali Al Abdullatif, Daniel J. Apicco, Lindsay A. Becker, Aaron D. Gitler, Stefan M. Pulst, Ahmed Youssef, Ryan Hekman, Pierre C. Havugimana, Carl A. White, Benjamin C. Blum, Antonia Ratti, Camron D. Bryant, John Parkinson, Kasper Lage, Mohan Babu, Haiyuan Yu, Gary D. Bader, Benjamin Wolozin, Andrew Emili

Cell Syst. Author manuscript; available in PMC 2021 Apr 22.

Published in final edited form as: Cell Syst. 2020 Apr 22; 10(4): 333–350.e14. doi: 10.1016/j.cels.2020.03.003

Correction in:: Cell Syst. 2020 Aug 26; 11(2): 208.

PMCID:: PMC7938770

Abstract Article PDF–2.0M

Select item 78459968.

Human genome diversity data reveal that L564P is the predominant TPC2 variant and a prerequisite for the blond hair associated M484L gain-of-function effect

Julia Böck, Einar Krogsaeter, Marcel Passon, Yu-Kai Chao, Sapna Sharma, Harald Grallert, Annette Peters, Christian Grimm

PLoS Genet. 2021 Jan; 17(1): e1009236. Published online 2021 Jan 19. doi: 10.1371/journal.pgen.1009236

PMCID:: PMC7845996

Abstract Article PDF–3.2M

Select item 73609679.

NAADP‐regulated two‐pore channels drive phagocytosis through endo‐lysosomal Ca²⁺ nanodomains, calcineurin and dynamin

Lianne C Davis, Anthony J Morgan, Antony Galione

EMBO J. 2020 Jul 15; 39(14): e104058. Published online 2020 Jun 8. doi: 10.15252/embj.2019104058

PMCID:: PMC7360967

Abstract Article PDF–4.9M

Select item 710886810.

Agonist-mediated switching of ion selectivity in TPC2 differentially promotes lysosomal function

Susanne Gerndt, Cheng-Chang Chen, Yu-Kai Chao, Yu Yuan, Sandra Burgstaller, Anna Scotto Rosato, Einar Krogsaeter, Nicole Urban, Katharina Jacob, Ong Nam Phuong Nguyen, Meghan T Miller, Marco Keller, Angelika M Vollmar, Thomas Gudermann, Susanna Zierler, Johann Schredelseker, Michael Schaefer, Martin Biel, Roland Malli, Christian Wahl-Schott, Franz Bracher, Sandip Patel, Christian Grimm

eLife. 2020; 9: e54712. Published online 2020 Mar 16. doi: 10.7554/eLife.54712

PMCID:: PMC7108868

Abstract Article PDF–4.7M

Select item 672808411.

ORAI1, stromal interaction molecules 1/2, and ryanodine receptor type 1 shape sub-second Ca²⁺ microdomains upon T cell activation

B.-P. Diercks, R. Werner, P. Weidemüller, F. Czarniak, L. Hernandez, C. Lehmann, A. Rosche, A. Krüger, U. Kaufmann, M. Vaeth, A. V. Failla, B. Zobiak, F. I. Kandil, D. Schetelig, A. Ruthenbeck, C. Meier, D. Lodygin, A. Flügel, D. Ren, I. M.A. Wolf, S. Feske, A. H. Guse

Sci Signal. Author manuscript; available in PMC 2019 Sep 5.

Published in final edited form as: Sci Signal. 2018 Dec 18; 11(561): eaat0358. Published online 2018 Dec 18. doi: 10.1126/scisignal.aat0358

PMCID:: PMC6728084

Abstract Article PDF–2.3M

Select item 667971612.

Hippocampal mGluR1-dependent long-term potentiation requires NAADP-mediated acidic store Ca²⁺ signaling

William J. Foster, Henry B. C. Taylor, Zahid Padamsey, Alexander F. Jeans, Antony Galione, Nigel J. Emptage

Sci Signal. Author manuscript; available in PMC 2019 Aug 3.

Published in final edited form as: Sci Signal. 2018 Nov 27; 11(558): eaat9093. Published online 2018 Nov 27. doi: 10.1126/scisignal.aat9093

PMCID:: PMC6679716

Abstract Article PDF–2.3M

Select item 625890013.

Adrenaline stimulates glucagon secretion by Tpc2-dependent Ca²⁺ mobilization from acidic stores in pancreatic α-cells

Alexander Hamilton, Quan Zhang, Albert Salehi, Mara Willems, Jakob G. Knudsen, Sam Stephen, Anna K. Ringgaard, Caroline E. Chapman, Alejandro Gonzalez-Alvarez, Nicoletta C. Surdo, Manuela Zaccolo, Davide Basco, Paul R.V. Johnson, Reshma Ramracheya, Guy A. Rutter, Antony Galione, Patrik Rorsman, Andrei I. Tarasov

Diabetes. Author manuscript; available in PMC 2018 Dec 1.

Published in final edited form as: Diabetes. 2018 Jun; 67(6): 1128–1139. Published online 2018 Mar 21. doi: 10.2337/db17-1102

PMCID:: PMC6258900

Abstract Article PDF–1.9M

Select item 613963414.

Tpcn2 knockout mice have improved insulin sensitivity and are protected against high-fat diet-induced weight gain

Hong He, Katie Holl, Sarah DeBehnke, Chay Teng Yeo, Polly Hansen, Abraham K. Gebre, Sandra Leone-Kabler, Margarida Ruas, John S. Parks, John Parrington, Leah C. Solberg Woods

Physiol Genomics. 2018 Aug 1; 50(8): 605–614. Published online 2018 May 11. doi: 10.1152/physiolgenomics.00135.2017

PMCID:: PMC6139634

Abstract Article

Select item 574307415.

Role of lysosomal channel protein TPC2 in osteoclast differentiation and bone remodeling under normal and low-magnesium conditions

Takuya Notomi, Miyuki Kuno, Akiko Hiyama, Tadashige Nozaki, Kiyoshi Ohura, Yoichi Ezura, Masaki Noda

J Biol Chem. 2017 Dec 22; 292(51): 20998–21010. Published online 2017 Oct 30. doi: 10.1074/jbc.M117.780072

PMCID:: PMC5743074

Abstract Article PDF–2.3M

Select item 529582116.

High-throughput discovery of novel developmental phenotypes

Mary E. Dickinson, Ann M. Flenniken, Xiao Ji, Lydia Teboul, Michael D. Wong, Jacqueline K. White, Terrence F. Meehan, Wolfgang J. Weninger, Henrik Westerberg, Hibret Adissu, Candice N. Baker, Lynette Bower, James M. Brown, L. Brianna Caddle, Francesco Chiani, Dave Clary, James Cleak, Mark J. Daly, James M. Denegre, Brendan Doe, Mary E. Dolan, Sarah M. Edie, Helmut Fuchs, Valerie Gailus-Durner, Antonella Galli, Alessia Gambadoro, Juan Gallegos, Shiying Guo, Neil R. Horner, Chih-wei Hsu, Sara J. Johnson, Sowmya Kalaga, Lance C. Keith, Louise Lanoue, Thomas N. Lawson, Monkol Lek, Manuel Mark, Susan Marschall, Jeremy Mason, Melissa L. McElwee, Susan Newbigging, Lauryl M.J. Nutter, Kevin A. Peterson, Ramiro Ramirez-Solis, Douglas J. Rowland, Edward Ryder, Kaitlin E. Samocha, John R. Seavitt, Mohammed Selloum, Zsombor Szoke-Kovacs, Masaru Tamura, Amanda G Trainor, Ilinca Tudose, Shigeharu Wakana, Jonathan Warren, Olivia Wendling, David B. West, Leeyean Wong, Atsushi Yoshiki, The International Mouse Phenotyping Consortium, Daniel G. MacArthur, Glauco P. Tocchini-Valentini, Xiang Gao, Paul Flicek, Allan Bradley, William C. Skarnes, Monica J. Justice, Helen E. Parkinson, Mark Moore, Sara Wells, Robert E. Braun, Karen L. Svenson, Martin Hrabe de Angelis, Yann Herault, Tim Mohun, Ann-Marie Mallon, R. Mark Henkelman, Steve D.M. Brown, David J. Adams, K.C. Kent Lloyd, Colin McKerlie, Arthur L. Beaudet, Maja Bucan, Stephen A. Murray

Nature. Author manuscript; available in PMC 2017 Mar 14.

Published in final edited form as: Nature. 2016 Sep 22; 537(7621): 508–514. Published online 2016 Sep 14. doi: 10.1038/nature19356

Correction in:: Nature. 2017 Nov 16; 551(7680): 398.

PMCID:: PMC5295821

Abstract Article PDF–3.0M

Select item 488768417.

Endolysosomal two‐pore channels regulate autophagy in cardiomyocytes

Vanessa García‐Rúa, Sandra Feijóo‐Bandín, Diego Rodríguez‐Penas, Ana Mosquera‐Leal, Emad Abu‐Assi, Andrés Beiras, Luisa María Seoane, Pamela Lear, John Parrington, Manuel Portolés, Esther Roselló‐Lletí, Miguel Rivera, Oreste Gualillo, Valentina Parra, Joseph A. Hill, Beverly Rothermel, José Ramón González‐Juanatey, Francisca Lago

J Physiol. 2016 Jun 1; 594(11): 3061–3077. Published online 2016 Feb 4. doi: 10.1113/JP271332

PMCID:: PMC4887684

Abstract Article PDF–1.1M

Select item 488259318.

A melanosomal two-pore sodium channel regulates pigmentation

Nicholas W. Bellono, Iliana E. Escobar, Elena Oancea

Sci Rep. 2016; 6: 26570. Published online 2016 May 27. doi: 10.1038/srep26570

Correction in:: Sci Rep. 2016; 6: 32274.

PMCID:: PMC4882593

Abstract Article PDF–1.1M

Select item 475197519.

The two pore channel TPC2 is dispensable in pancreatic β-cells for normal Ca²⁺ dynamics and insulin secretion

Matthew C. Cane, John Parrington, Patrik Rorsman, Antony Galione, Guy A. Rutter

Cell Calcium. 2016 Jan; 59(1): 32–40. doi: 10.1016/j.ceca.2015.12.004

PMCID:: PMC4751975

Abstract Article PDF–2.2M

Select item 470596820.

Two-pore Channels (TPC2s) and Nicotinic Acid Adenine Dinucleotide Phosphate (NAADP) at Lysosomal-Sarcoplasmic Reticular Junctions Contribute to Acute and Chronic β-Adrenoceptor Signaling in the Heart

Rebecca A. Capel, Emma L. Bolton, Wee K. Lin, Daniel Aston, Yanwen Wang, Wei Liu, Xin Wang, Rebecca-Ann B. Burton, Duncan Bloor-Young, Kai-Ting Shade, Margarida Ruas, John Parrington, Grant C. Churchill, Ming Lei, Antony Galione, Derek A. Terrar

J Biol Chem. 2015 Dec 11; 290(50): 30087–30098. Published online 2015 Oct 5. doi: 10.1074/jbc.M115.684076

PMCID:: PMC4705968

Abstract Article PDF–2.3M

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