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Select item 110243451.

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 108624102.

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 105813883.

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 104942094.

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 99095385.

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 99015126.

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 92361337.

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 91603228.

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 90902499.

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 894319010.

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 876378811.

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 751911312.

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 740632513.

Mitochondrial damage and senescence phenotype of cells derived from a novel frataxin G127V point mutation mouse model of Friedreich's ataxia

Daniel Fil, Balu K. Chacko, Robbie Conley, Xiaosen Ouyang, Jianhua Zhang, Victor M. Darley-Usmar, Aamir R. Zuberi, Cathleen M. Lutz, Marek Napierala, Jill S. Napierala

Dis Model Mech. 2020 Jul 1; 13(7): dmm045229. Published online 2020 Jul 27. doi: 10.1242/dmm.045229

PMCID:: PMC7406325

Abstract Article

Select item 714207714.

Long-term voluntary running prevents the onset of symptomatic Friedreich’s ataxia in mice

Henan Zhao, Bevan M. Lewellen, Rebecca J. Wilson, Di Cui, Joshua C. Drake, Mei Zhang, Zhen Yan

Sci Rep. 2020; 10: 6095. Published online 2020 Apr 8. doi: 10.1038/s41598-020-62952-6

Correction in:: Sci Rep. 2021; 11: 16488.

PMCID:: PMC7142077

Abstract Article PDF–1.5M

Select item 697851615.

Frataxin deficiency induces lipid accumulation and affects thermogenesis in brown adipose tissue

Riccardo Turchi, Flavia Tortolici, Giulio Guidobaldi, Federico Iacovelli, Mattia Falconi, Stefano Rufini, Raffaella Faraonio, Viviana Casagrande, Massimo Federici, Lorenzo De Angelis, Simone Carotti, Maria Francesconi, Maria Zingariello, Sergio Morini, Roberta Bernardini, Maurizio Mattei, Piergiorgio La Rosa, Fiorella Piemonte, Daniele Lettieri-Barbato, Katia Aquilano

Cell Death Dis. 2020 Jan; 11(1): 51. Published online 2020 Jan 23. doi: 10.1038/s41419-020-2253-2

Correction in:: Cell Death Dis. 2020 Mar; 11(3): 165.

PMCID:: PMC6978516

Abstract Article PDF–4.4M

Select item 682105316.

Potential biomarker identification for Friedreich’s ataxia using overlapping gene expression patterns in patient cells and mouse dorsal root ganglion

Marissa Z. McMackin, Blythe Durbin-Johnson, Marek Napierala, Jill S. Napierala, Luis Ruiz, Eleonora Napoli, Susan Perlman, Cecilia Giulivi, Gino A. Cortopassi

PLoS One. 2019; 14(10): e0223209. Published online 2019 Oct 30. doi: 10.1371/journal.pone.0223209

PMCID:: PMC6821053

Abstract Article PDF–1.1M

Select item 625888317.

Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare

Sahar Al-Mahdawi, Heather Ging, Aurelien Bayot, Francesca Cavalcanti, Valentina La Cognata, Sebastiano Cavallaro, Paola Giunti, Mark A. Pook

Front Cell Neurosci. 2018; 12: 443. Published online 2018 Nov 21. doi: 10.3389/fncel.2018.00443

PMCID:: PMC6258883

Abstract Article PDF–1.9M

Select item 625152018.

Frataxin deficiency impairs mitochondrial biogenesis in cells, mice and humans

Mittal J. Jasoliya, Marissa Z. McMackin, Chelsea K. Henderson, Susan L. Perlman, Gino A. Cortopassi

Hum Mol Genet. 2017 Jul 15; 26(14): 2627–2633. Published online 2017 Apr 21. doi: 10.1093/hmg/ddx141

PMCID:: PMC6251520

Abstract Article PDF–409K

Select item 573583019.

Transplantation of wild-type mouse hematopoietic stem and progenitor cells ameliorates deficits in a mouse model of Friedreich’s ataxia

Celine J. Rocca, Spencer M. Goodman, Jennifer N. Dulin, Joseph H. Haquang, Ilya Gertsman, Jordan Blondelle, Janell L. M. Smith, Charles J. Heyser, Stephanie Cherqui

Sci Transl Med. Author manuscript; available in PMC 2017 Dec 19.

Published in final edited form as: Sci Transl Med. 2017 Oct 25; 9(413): eaaj2347. doi: 10.1126/scitranslmed.aaj2347

PMCID:: PMC5735830

Abstract Article PDF–2.0M

Select item 571925520.

Early cerebellar deficits in mitochondrial biogenesis and respiratory chain complexes in the KIKO mouse model of Friedreich ataxia

Hong Lin, Jordi Magrane, Amy Rattelle, Anna Stepanova, Alexander Galkin, Elisia M. Clark, Yi Na Dong, Sarah M. Halawani, David R. Lynch

Dis Model Mech. 2017 Nov 1; 10(11): 1343–1352. doi: 10.1242/dmm.030502

Correction in:: Dis Model Mech. 2018 Jan 1; 11(1): dmm033415.

PMCID:: PMC5719255

Abstract Article

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