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Select item 111789151.

High fat diet ameliorates mitochondrial cardiomyopathy in CHCHD10 mutant mice

Nneka Southwell, Onorina Manzo, Sandra Bacman, Dazhi Zhao, Nicole M Sayles, Jalia Dash, Keigo Fujita, Marilena D’Aurelio, Annarita Di Lorenzo, Giovanni Manfredi, Hibiki Kawamata

EMBO Mol Med. 2024 Jun; 16(6): 1352–1378. Published online 2024 May 9. doi: 10.1038/s44321-024-00067-5

PMCID:: PMC11178915

Abstract Article PDF–9.0M

Select item 110243452.

Frataxin deficiency shifts metabolism to promote reactive microglia via glucose catabolism

Francesca Sciarretta, Fabio Zaccaria, Andrea Ninni, Veronica Ceci, Riccardo Turchi, Savina Apolloni, Martina Milani, Ilaria Della Valle, Marta Tiberi, Valerio Chiurchiù, Nadia D’Ambrosi, Silvia Pedretti, Nico Mitro, Cinzia Volontè, Susanna Amadio, Katia Aquilano, Daniele Lettieri-Barbato

Life Sci Alliance. 2024 Jul; 7(7): e202402609. Published online 2024 Apr 17. doi: 10.26508/lsa.202402609

PMCID:: PMC11024345

Abstract Article PDF–3.5M

Select item 109176603.

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 108624104.

AAV8 gene therapy reverses cardiac pathology and prevents early mortality in a mouse model of Friedreich’s ataxia

Joshua C. Chang, Molly R. Ryan, Marie C. Stark, Su Liu, Pravinkumar Purushothaman, Fria Bolan, Caitlin A. Johnson, Mark Champe, Hui Meng, Michael W. Lawlor, Sarah Halawani, Lucie V. Ngaba, David R. Lynch, Crystal Davis, Elena Gonzalo-Gil, Cathleen Lutz, Fabrizia Urbinati, Bala Medicherla, Carlos Fonck

Mol Ther Methods Clin Dev. 2024 Mar 14; 32(1): 101193. Published online 2024 Jan 22. doi: 10.1016/j.omtm.2024.101193

PMCID:: PMC10862410

Abstract Article PDF–4.3M

Select item 105813885.

Comparative multi-omic analyses of cardiac mitochondrial stress in three mouse models of frataxin deficiency

Nicole M. Sayles, Jill S. Napierala, Josef Anrather, Nadège Diedhiou, Jixue Li, Marek Napierala, Hélène Puccio, Giovanni Manfredi

Dis Model Mech. 2023 Oct 1; 16(10): dmm050114. Published online 2023 Oct 9. doi: 10.1242/dmm.050114

Correction in:: Dis Model Mech. 2024 Jan 1; 17(1): dmm050689.

PMCID:: PMC10581388

Abstract Article

Select item 105249296.

Frataxin deficiency disrupts mitochondrial respiration and pulmonary endothelial cell function

Miranda K. Culley, Rashmi J. Rao, Monica Mehta, Jingsi Zhao, Wadih El Khoury, Lloyd D. Harvey, Dror Perk, Yi Yin Tai, Ying Tang, Sruti Shiva, Marlene Rabinovitch, Mingxia Gu, Thomas Bertero, Stephen Y. Chan

Vascul Pharmacol. Author manuscript; available in PMC 2024 Aug 1.

Published in final edited form as: Vascul Pharmacol. 2023 Aug; 151: 107181. Published online 2023 May 8. doi: 10.1016/j.vph.2023.107181

PMCID:: PMC10524929

Abstract Article PDF–1.0M

Select item 104942097.

Butyrate prevents visceral adipose tissue inflammation and metabolic alterations in a Friedreich’s ataxia mouse model

Riccardo Turchi, Francesca Sciarretta, Veronica Ceci, Marta Tiberi, Matteo Audano, Silvia Pedretti, Concetta Panebianco, Valentina Nesci, Valerio Pazienza, Alberto Ferri, Simone Carotti, Valerio Chiurchiù, Nico Mitro, Daniele Lettieri-Barbato, Katia Aquilano

iScience. 2023 Oct 20; 26(10): 107713. Published online 2023 Aug 28. doi: 10.1016/j.isci.2023.107713

PMCID:: PMC10494209

Abstract Article PDF–5.9M

Select item 99095388.

A new FRDA mouse model [Fxn^null:YG8s(GAA) > 800] with more than 800 GAA repeats

Ester Kalef-Ezra, Fred Jonathan Edzeamey, Adamo Valle, Hassan Khonsari, Paula Kleine, Carlo Oggianu, Sahar Al-Mahdawi, Mark A. Pook, Sara Anjomani Virmouni

Front Neurosci. 2023; 17: 930422. Published online 2023 Jan 26. doi: 10.3389/fnins.2023.930422

PMCID:: PMC9909538

Abstract Article PDF–1.9M

Select item 99015129.

Neurobehavioral deficits of mice expressing a low level of G127V mutant frataxin

Daniel Fil, Robbie L. Conley, Aamir R. Zuberi, Cathleen M. Lutz, Terry Gemelli, Marek Napierala, Jill S. Napierala

Neurobiol Dis. Author manuscript; available in PMC 2023 Feb 6.

Published in final edited form as: Neurobiol Dis. 2023 Feb; 177: 105996. Published online 2023 Jan 10. doi: 10.1016/j.nbd.2023.105996

PMCID:: PMC9901512

Abstract Article PDF–2.1M

Select item 943372310.

Hyperactivation of mTOR and AKT in a cardiac hypertrophy animal model of Friedreich ataxia

Wing-Hang Tong, Hayden Ollivierre, Audrey Noguchi, Manik C. Ghosh, Danielle A. Springer, Tracey A. Rouault

Heliyon. 2022 Aug; 8(8): e10371. Published online 2022 Aug 23. doi: 10.1016/j.heliyon.2022.e10371

PMCID:: PMC9433723

Abstract Article PDF–2.9M

Select item 923613311.

Frataxin Deficit Leads to Reduced Dynamics of Growth Cones in Dorsal Root Ganglia Neurons of Friedreich’s Ataxia YG8sR Model: A Multilinear Algebra Approach

Diana C. Muñoz-Lasso, Belén Mollá, Jhon J. Sáenz-Gamboa, Edwin Insuasty, Maria de la Iglesia-Vaya, Mark A. Pook, Federico V. Pallardó, Francesc Palau, Pilar Gonzalez-Cabo

Front Mol Neurosci. 2022; 15: 912780. Published online 2022 Jun 13. doi: 10.3389/fnmol.2022.912780

PMCID:: PMC9236133

Abstract Article PDF–2.6M

Select item 916032212.

A Drug Combination Rescues Frataxin-Dependent Neural and Cardiac Pathophysiology in FA Models

Rosella Abeti, Mittal Jasoliya, Sahar Al-Mahdawi, Mark Pook, Cristina Gonzalez-Robles, Chun Kiu Hui, Gino Cortopassi, Paola Giunti

Front Mol Biosci. 2022; 9: 830650. Published online 2022 May 19. doi: 10.3389/fmolb.2022.830650

Correction in:: Front Mol Biosci. 2022; 9: 968121.

PMCID:: PMC9160322

Abstract Article PDF–1.8M

Select item 909024913.

Frataxin deficiency lowers lean mass and triggers the integrated stress response in skeletal muscle

César Vásquez-Trincado, Julia Dunn, Ji In Han, Briyanna Hymms, Jaclyn Tamaroff, Monika Patel, Sara Nguyen, Anna Dedio, Kristin Wade, Chinazo Enigwe, Zuzana Nichtova, David R. Lynch, Gyorgy Csordas, Shana E. McCormack, Erin L. Seifert

JCI Insight. 2022 May 9; 7(9): e155201. Published online 2022 May 9. doi: 10.1172/jci.insight.155201

PMCID:: PMC9090249

Abstract Article PDF–2.3M

Select item 894441414.

Spatial integration during active tactile sensation drives orientation perception

Jennifer Brown, Ian Antón Oldenburg, Gregory I. Telian, Sandon Griffin, Mieke Voges, Vedant Jain, Hillel Adesnik

Neuron. Author manuscript; available in PMC 2022 May 19.

Published in final edited form as: Neuron. 2021 May 19; 109(10): 1707–1720.e7. Published online 2021 Apr 6. doi: 10.1016/j.neuron.2021.03.020

PMCID:: PMC8944414

Abstract Article PDF–2.6M

Select item 894319015.

DNA methylation in Friedreich ataxia silences expression of frataxin isoform E

Layne N. Rodden, Kaitlyn M. Gilliam, Christina Lam, Teerapat Rojsajjakul, Clementina Mesaros, Chiara Dionisi, Mark Pook, Massimo Pandolfo, David R. Lynch, Ian A. Blair, Sanjay I. Bidichandani

Sci Rep. 2022; 12: 5031. Published online 2022 Mar 23. doi: 10.1038/s41598-022-09002-5

PMCID:: PMC8943190

Abstract Article PDF–2.5M

Select item 876378816.

Mice harboring the FXN I151F pathological point mutation present decreased frataxin levels, a Friedreich ataxia-like phenotype, and mitochondrial alterations

Marta Medina-Carbonero, Arabela Sanz-Alcázar, Elena Britti, Fabien Delaspre, Elisa Cabiscol, Joaquim Ros, Jordi Tamarit

Cell Mol Life Sci. 2022 Feb; 79(2): 74. Published online 2022 Jan 17. doi: 10.1007/s00018-021-04100-5

PMCID:: PMC8763788

Abstract Article PDF–3.7M

Select item 815969917.

Frataxin deficiency promotes endothelial senescence in pulmonary hypertension

Miranda K. Culley, Jingsi Zhao, Yi Yin Tai, Ying Tang, Dror Perk, Vinny Negi, Qiujun Yu, Chen-Shan C. Woodcock, Adam Handen, Gil Speyer, Seungchan Kim, Yen-Chun Lai, Taijyu Satoh, Annie M.M. Watson, Yassmin Al Aaraj, John Sembrat, Mauricio Rojas, Dmitry Goncharov, Elena A. Goncharova, Omar F. Khan, Daniel G. Anderson, James E. Dahlman, Aditi U. Gurkar, Robert Lafyatis, Ahmed U. Fayyaz, Margaret M. Redfield, Mark T. Gladwin, Marlene Rabinovitch, Mingxia Gu, Thomas Bertero, Stephen Y. Chan

J Clin Invest. 2021 Jun 1; 131(11): e136459. Published online 2021 Jun 1. doi: 10.1172/JCI136459

PMCID:: PMC8159699

Abstract Article PDF–16M

Select item 793877018.

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 751911319.

Extra-mitochondrial mouse frataxin and its implications for mouse models of Friedreich’s ataxia

Liwei Weng, Laurent Laboureur, Qingqing Wang, Lili Guo, Peining Xu, Leah Gottlieb, David R. Lynch, Clementina Mesaros, Ian A. Blair

Sci Rep. 2020; 10: 15788. Published online 2020 Sep 25. doi: 10.1038/s41598-020-72884-w

PMCID:: PMC7519113

Abstract Article PDF–3.2M

Select item 745013020.

Cardiolipin-deficient cells have decreased levels of the iron–sulfur biogenesis protein frataxin

Yiran Li, Wenjia Lou, Alexander Grevel, Lena Böttinger, Zhuqing Liang, Jiajia Ji, Vinay A. Patil, Jenney Liu, Cunqi Ye, Maik Hüttemann, Thomas Becker, Miriam L. Greenberg

J Biol Chem. 2020 Aug 14; 295(33): 11928–11937. Published online 2020 Jul 6. doi: 10.1074/jbc.RA120.013960

PMCID:: PMC7450130

Abstract Article PDF–1.5M

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