PMC Links for GEO Profiles (Select 44700192) - PMC

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Items: 11

Select item 103547311.

Identification of Safe and Effective Intravenous Dose of AAVrh.10hFXN to Treat the Cardiac Manifestations of Friedreich's Ataxia

Carlos Munoz-Zuluaga, Monica Gertz, Melissa Yost-Bido, Alessandria Greco, Nicholas Gorman, Alvin Chen, Vikrum Kooner, Jonathan B. Rosenberg, Bishnu P. De, Stephen M. Kaminsky, Alain Borczuk, Rodolfo J. Ricart Arbona, Heather R. Martin, Sebastien Monette, Richie Khanna, Jay A. Barth, Ronald G. Crystal, Dolan Sondhi

Hum Gene Ther. July 2023; 34(13-14): 605–615. Published online 2023 Jul 17. doi: 10.1089/hum.2023.020

PMCID:: PMC10354731

Abstract Article PDF–903K

Select item 67304142.

Friedreich Ataxia Mouse Models with Progressive Cerebellar and Sensory Ataxia Reveal Autophagic Neurodegeneration in Dorsal Root Ganglia

Delphine Simon, Hervé Seznec, Anne Gansmuller, Nadège Carelle, Philipp Weber, Daniel Metzger, Pierre Rustin, Michel Koenig, Hélène Puccio

J Neurosci. 2004 Feb 25; 24(8): 1987–1995. doi: 10.1523/JNEUROSCI.4549-03.2004

PMCID:: PMC6730414

Abstract Article PDF–632K

Select item 58173533.

Iron Sulfur and Molybdenum Cofactor Enzymes Regulate the Drosophila Life Cycle by Controlling Cell Metabolism

Zvonimir Marelja, Silke Leimkühler, Fanis Missirlis

Front Physiol. 2018; 9: 50. Published online 2018 Feb 14. doi: 10.3389/fphys.2018.00050

PMCID:: PMC5817353

Abstract Article PDF–5.1M

Select item 39655434.

Rescue of the Friedreich Ataxia Knockout Mutation in Transgenic Mice Containing an FXN-EGFP Genomic Reporter

Joseph P. Sarsero, Timothy P. Holloway, Lingli Li, David I. Finkelstein, Panos A. Ioannou

PLoS One. 2014; 9(3): e93307. Published online 2014 Mar 25. doi: 10.1371/journal.pone.0093307

PMCID:: PMC3965543

Abstract Article PDF–5.5M

Select item 32841155.

A TAT–Frataxin fusion protein increases lifespan and cardiac function in a conditional Friedreich's ataxia mouse model

Piyush M. Vyas, Wendy J. Tomamichel, P. Melanie Pride, Clifford M. Babbey, Qiujuan Wang, Jennifer Mercier, Elizabeth M. Martin, R. Mark Payne

Hum Mol Genet. 2012 Mar 15; 21(6): 1230–1247. Published online 2011 Nov 23. doi: 10.1093/hmg/ddr554

PMCID:: PMC3284115

Abstract Article PDF–700K

Select item 31780596.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 27788447.

A mitochondrial protein compendium elucidates complex I disease biology

David J. Pagliarini, Sarah E. Calvo, Betty Chang, Sunil A. Sheth, Scott B. Vafai, Shao-En Ong, Geoffrey A. Walford, Canny Sugiana, Avihu Boneh, William K. Chen, David E. Hill, Marc Vidal, James G. Evans, David R. Thorburn, Steven A. Carr, Vamsi K. Mootha

Cell. Author manuscript; available in PMC 2009 Nov 18.

Published in final edited form as: Cell. 2008 Jul 11; 134(1): 112–123. doi: 10.1016/j.cell.2008.06.016

PMCID:: PMC2778844

Abstract Article PDF–1.2M

Select item 24657968.

Iron-dependent regulation of frataxin expression: implications for treatment of Friedreich ataxia

Kuanyu Li, Edward K. Besse, Dung Ha, Gennadiy Kovtunovych, Tracey A. Rouault

Hum Mol Genet. 2008 Aug 1; 17(15): 2265–2273. Published online 2008 Apr 17. doi: 10.1093/hmg/ddn127

PMCID:: PMC2465796

Abstract Article PDF–676K

Select item 18474599.

Reduced expression of mitochondrial frataxin in mice exacerbates diet-induced obesity

Doreen Pomplun, Anja Voigt, Tim J. Schulz, René Thierbach, Andreas F. Pfeiffer, Michael Ristow

Proc Natl Acad Sci U S A. 2007 Apr 10; 104(15): 6377–6381. Published online 2007 Apr 2. doi: 10.1073/pnas.0611631104

PMCID:: PMC1847459

Abstract Article PDF–407K

Select item 17139110.

Frataxin deficiency in pancreatic islets causes diabetes due to loss of β cell mass

Michael Ristow, Hindrik Mulder, Doreen Pomplun, Tim J. Schulz, Katrin Müller-Schmehl, Anja Krause, Malin Fex, Hélène Puccio, Jörg Müller, Frank Isken, Joachim Spranger, Dirk Müller-Wieland, Mark A. Magnuson, Matthias Möhlig, Michel Koenig, Andreas F.H. Pfeiffer

J Clin Invest. 2003 Aug 15; 112(4): 527–534. doi: 10.1172/JCI18107

PMCID:: PMC171391

Abstract Article PDF–2.3M

Select item 2510511.

Hypertension, cardiac hypertrophy, and sudden death in mice lacking natriuretic peptide receptor A

Paula M. Oliver, Jennifer E. Fox, Ron Kim, Howard A. Rockman, Hyung-Suk Kim, Robert L. Reddick, Kailash N. Pandey, Sharon L. Milgram, Oliver Smithies, Nobuyo Maeda

Proc Natl Acad Sci U S A. 1997 Dec 23; 94(26): 14730–14735. doi: 10.1073/pnas.94.26.14730