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Select item 113515061.

A deep phenotyping study in mouse and iPSC models to understand the role of oligodendroglia in optic neuropathy in Wolfram syndrome

K. Ahuja, M. Vandenabeele, F. Nami, E. Lefevere, J. Van hoecke, S. Bergmans, M. Claes, T. Vervliet, K. Neyrinck, T. Burg, D. De Herdt, P. Bhaskar, Y. Zhu, Z. J. Looser, J. Loncke, W. Gsell, M. Plaas, P. Agostinis, J. V. Swinnen, L. Van Den Bosch, G. Bultynck, A. S. Saab, E. Wolfs, Y. C. Chai, U. Himmelreich, C. Verfaillie, L. Moons, L. De Groef

Acta Neuropathol Commun. 2024; 12: 140. Published online 2024 Aug 28. doi: 10.1186/s40478-024-01851-7

PMCID:: PMC11351506

Abstract Article PDF–3.3M

Select item 105768132.

KDM2B regulates hippocampal morphogenesis by transcriptionally silencing Wnt signaling in neural progenitors

Bo Zhang, Chen Zhao, Wenchen Shen, Wei Li, Yue Zheng, Xiangfei Kong, Junbao Wang, Xudong Wu, Tao Zeng, Ying Liu, Yan Zhou

Nat Commun. 2023; 14: 6489. Published online 2023 Oct 14. doi: 10.1038/s41467-023-42322-2

PMCID:: PMC10576813

Abstract Article PDF–13M

Select item 103108133.

Wfs1^E864K knock-in mice illuminate the fundamental role of Wfs1 in endocochlear potential production

Elodie M. Richard, Emilie Brun, Julia Korchagina, Lucie Crouzier, Corentin Affortit, Stacy Alves, Chantal Cazevieille, Anne-Laure Mausset-Bonnefont, Marc Lenoir, Jean-Luc Puel, Tangui Maurice, Marc Thiry, Jing Wang, Benjamin Delprat

Cell Death Dis. 2023 Jun; 14(6): 387. Published online 2023 Jun 29. doi: 10.1038/s41419-023-05912-y

PMCID:: PMC10310813

Abstract Article PDF–6.3M

Select item 103078524.

KCTD13-mediated ubiquitination and degradation of GluN1 regulates excitatory synaptic transmission and seizure susceptibility

Juan Gu, Pingyang Ke, Haokun Guo, Jing Liu, Yan Liu, Xin Tian, Zhuo Huang, Xin Xu, Demei Xu, Yuanlin Ma, Xuefeng Wang, Fei Xiao

Cell Death Differ. 2023 Jul; 30(7): 1726–1741. Published online 2023 May 4. doi: 10.1038/s41418-023-01174-5

PMCID:: PMC10307852

Abstract Article PDF–8.8M

Select item 102442975.

GLP-1R agonists demonstrate potential to treat Wolfram syndrome in human preclinical models

Vyron Gorgogietas, Bahareh Rajaei, Chae Heeyoung, Bruno J. Santacreu, Sandra Marín-Cañas, Paraskevi Salpea, Toshiaki Sawatani, Anyishai Musuaya, María N. Arroyo, Cristina Moreno-Castro, Khadija Benabdallah, Celine Demarez, Sanna Toivonen, Cristina Cosentino, Nathalie Pachera, Maria Lytrivi, Ying Cai, Lode Carnel, Cris Brown, Fumihiko Urano, Piero Marchetti, Patrick Gilon, Decio L. Eizirik, Miriam Cnop, Mariana Igoillo-Esteve

Diabetologia. 2023; 66(7): 1306–1321. Published online 2023 Mar 30. doi: 10.1007/s00125-023-05905-8

PMCID:: PMC10244297

Abstract Article PDF–4.5M

Select item 99382166.

Rescue of neuropsychiatric phenotypes in a mouse model of 16p11.2 duplication syndrome by genetic correction of an epilepsy network hub

Marc P. Forrest, Marc Dos Santos, Nicolas H. Piguel, Yi-Zhi Wang, Nicole A. Hawkins, Vikram A. Bagchi, Leonardo E. Dionisio, Sehyoun Yoon, Dina Simkin, Maria Dolores Martin-de-Saavedra, Ruoqi Gao, Katherine E. Horan, Alfred L. George, Jr., Mark S. LeDoux, Jennifer A. Kearney, Jeffrey N. Savas, Peter Penzes

Nat Commun. 2023; 14: 825. Published online 2023 Feb 17. doi: 10.1038/s41467-023-36087-x

PMCID:: PMC9938216

Abstract Article PDF–5.3M

Select item 98917177.

MCT1-dependent energetic failure and neuroinflammation underlie optic nerve degeneration in Wolfram syndrome mice

Greta Rossi, Gabriele Ordazzo, Niccolò N Vanni, Valerio Castoldi, Angelo Iannielli, Dario Di Silvestre, Edoardo Bellini, Letizia Bernardo, Serena G Giannelli, Mirko Luoni, Sharon Muggeo, Letizia Leocani, PierLuigi Mauri, Vania Broccoli

eLife. 2023; 12: e81779. Published online 2023 Jan 16. doi: 10.7554/eLife.81779

PMCID:: PMC9891717

Abstract Article PDF–6.8M

Select item 89907508.

Loss of Function of WFS1 Causes ER Stress-Mediated Inflammation in Pancreatic Beta-Cells

Shuntaro Morikawa, Lindsey Blacher, Chinyere Onwumere, Fumihiko Urano

Front Endocrinol (Lausanne) 2022; 13: 849204. Published online 2022 Mar 25. doi: 10.3389/fendo.2022.849204

PMCID:: PMC8990750

Abstract Article PDF–5.8M

Select item 86329729.

WFS1 functions in ER export of vesicular cargo proteins in pancreatic β-cells

Linlin Wang, Hongyang Liu, Xiaofei Zhang, Eli Song, You Wang, Tao Xu, Zonghong Li

Nat Commun. 2021; 12: 6996. Published online 2021 Nov 30. doi: 10.1038/s41467-021-27344-y

PMCID:: PMC8632972

Abstract Article PDF–5.6M

Select item 793877010.

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 729503311.

Ex vivo Quantitative Proteomic Analysis of Serotonin Transporter Interactome: Network Impact of the SERT Ala56 Coding Variant

Meagan A. Quinlan, Matthew J. Robson, Ran Ye, Kristie L. Rose, Kevin L. Schey, Randy D. Blakely

Front Mol Neurosci. 2020; 13: 89. Published online 2020 Jun 8. doi: 10.3389/fnmol.2020.00089

PMCID:: PMC7295033

Abstract Article PDF–2.7M

Select item 728678612.

Wolfram syndrome 1 gene regulates pathways maintaining beta cell health and survival

Damien Abreu, Rie Asada, John M. P. Revilla, Zeno Lavagnino, Kelly Kries, David W. Piston, Fumihiko Urano

Lab Invest. Author manuscript; available in PMC 2020 Aug 14.

Published in final edited form as: Lab Invest. 2020 Jun; 100(6): 849–862. Published online 2020 Feb 14. doi: 10.1038/s41374-020-0408-5

PMCID:: PMC7286786

Abstract Article PDF–1.6M

Select item 689676613.

The transcriptional coactivator and histone acetyltransferase CBP regulates neural precursor cell development and migration

Melanie Schoof, Michael Launspach, Dörthe Holdhof, Lynhda Nguyen, Verena Engel, Severin Filser, Finn Peters, Jana Immenschuh, Malte Hellwig, Judith Niesen, Volker Mall, Birgit Ertl-Wagner, Christian Hagel, Michael Spohn, Beat Lutz, Jan Sedlacik, Daniela Indenbirken, Daniel J. Merk, Ulrich Schüller

Acta Neuropathol Commun. 2019; 7: 199. Published online 2019 Dec 5. doi: 10.1186/s40478-019-0849-5

PMCID:: PMC6896766

Abstract Article PDF–4.8M

Select item 643568314.

Pancreatic stone protein/regenerating protein is a potential biomarker for endoplasmic reticulum stress in beta cells

Stephen Stone, Damien Abreu, Jana Mahadevan, Rie Asada, Kelly Kries, Rolf Graf, Bess A. Marshall, Tamara Hershey, Fumihiko Urano

Sci Rep. 2019; 9: 5199. Published online 2019 Mar 26. doi: 10.1038/s41598-019-41604-4

PMCID:: PMC6435683

Abstract Article PDF–1.2M

Select item 610120815.

Sodium-potassium ATPase beta 1 subunit is a molecular partner of Wolframin, an endoplasmic reticulum (ER) protein involved in ER stress

Malgorzata Zatyka, Christopher Ricketts, Gabriela da Silva Xavier, Jayne A. Minton, Sarah Fenton, Sabine Hofmann-Thiel, Guy A. Rutter, Timothy G. Barrett

Hum Mol Genet. Author manuscript; available in PMC 2018 Aug 20.

Published in final edited form as: Hum Mol Genet. 2008 Jan 15; 17(2): 190–200. Published online 2007 Oct 18. doi: 10.1093/hmg/ddm296

PMCID:: PMC6101208

Abstract Article PDF–1.4M

Select item 579902316.

Chemical cross-linking mass spectrometry analysis of protein conformations and supercomplexes in heart tissue

Juan D. Chavez, Chi Fung Lee, Arianne Caudal, Andrew Keller, Rong Tian, James E. Bruce

Cell Syst. Author manuscript; available in PMC 2019 Jan 24.

Published in final edited form as: Cell Syst. 2018 Jan 24; 6(1): 136–141.e5. Published online 2017 Nov 29. doi: 10.1016/j.cels.2017.10.017

PMCID:: PMC5799023

Abstract Article PDF–730K

Select item 543646817.

Wfs1 is expressed in dopaminoceptive regions of the amniote brain and modulates levels of D1-like receptors

Triin Tekko, Triin Lakspere, Anni Allikalt, Jaanus End, Karl Rene Kõlvart, Toomas Jagomäe, Anton Terasmaa, Mari-Anne Philips, Tanel Visnapuu, Fred Väärtnõu, Scott F. Gilbert, Ago Rinken, Eero Vasar, Kersti Lilleväli

PLoS One. 2017; 12(3): e0172825. Published online 2017 Mar 7. doi: 10.1371/journal.pone.0172825

PMCID:: PMC5436468

Abstract Article PDF–4.0M

Select item 495105318.

Role of Mitochondrial Dynamics in Neuronal Development: Mechanism for Wolfram Syndrome

Michal Cagalinec, Mailis Liiv, Zuzana Hodurova, Miriam Ann Hickey, Annika Vaarmann, Merle Mandel, Akbar Zeb, Vinay Choubey, Malle Kuum, Dzhamilja Safiulina, Eero Vasar, Vladimir Veksler, Allen Kaasik

PLoS Biol. 2016 Jul; 14(7): e1002511. Published online 2016 Jul 19. doi: 10.1371/journal.pbio.1002511

PMCID:: PMC4951053

Abstract Article PDF–4.4M

Select item 491482919.

Tissue-Specific Gene Repositioning by Muscle Nuclear Membrane Proteins Enhances Repression of Critical Developmental Genes during Myogenesis

Michael I. Robson, Jose I. de las Heras, Rafal Czapiewski, Phú Lê Thành, Daniel G. Booth, David A. Kelly, Shaun Webb, Alastair R.W. Kerr, Eric C. Schirmer

Mol Cell. 2016 Jun 16; 62(6): 834–847. doi: 10.1016/j.molcel.2016.04.035

PMCID:: PMC4914829

Abstract Article PDF–5.8M

Select item 483132420.

RNA‐sequencing of WFS1‐deficient pancreatic islets

Marilin Ivask, Alison Hugill, Sulev Kõks

Physiol Rep. 2016 Apr; 4(7): e12750. Published online 2016 Apr 6. doi: 10.14814/phy2.12750

PMCID:: PMC4831324

Abstract Article PDF–925K

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