PMC Links for GEO Profiles (Select 75138049) - PMC

Select item 54279541.

StAR Enhances Transcription of Genes Encoding the Mitochondrial Proteases Involved in Its Own Degradation

Assaf Bahat, Shira Perlberg, Naomi Melamed-Book, Ines Lauria, Thomas Langer, Joseph Orly

Mol Endocrinol. 2014 Feb; 28(2): 208–224. Published online 2013 Dec 18. doi: 10.1210/me.2013-1275

PMCID:: PMC5427954

Select item 43822342.

Purkinje neuron Ca²⁺ influx reduction rescues ataxia in SCA28 model

Francesca Maltecca, Elisa Baseggio, Francesco Consolato, Davide Mazza, Paola Podini, Samuel M. Young, Jr., Ilaria Drago, Ben A. Bahr, Aldamaria Puliti, Franca Codazzi, Angelo Quattrini, Giorgio Casari

J Clin Invest. 2015 Jan 2; 125(1): 263–274. Published online 2014 Dec 8. doi: 10.1172/JCI74770

PMCID:: PMC4382234

Abstract Article PDF–5.4M

Select item 33211493.

Mitochondrial processing peptidase regulates PINK1 processing, import and Parkin recruitment

Andrew W Greene, Karl Grenier, Miguel A Aguileta, Stephanie Muise, Rasoul Farazifard, M Emdadul Haque, Heidi M McBride, David S Park, Edward A Fon

EMBO Rep. 2012 Apr; 13(4): 378–385. Published online 2012 Feb 21. doi: 10.1038/embor.2012.14

PMCID:: PMC3321149

Abstract Article PDF–1.0M

Select item 31928284.

Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

Tyler Mark Pierson, David Adams, Florian Bonn, Paola Martinelli, Praveen F. Cherukuri, Jamie K. Teer, Nancy F. Hansen, Pedro Cruz, James C. Mullikin for the NISC Comparative Sequencing Program, Robert W. Blakesley, Gretchen Golas, Justin Kwan, Anthony Sandler, Karin Fuentes Fajardo, Thomas Markello, Cynthia Tifft, Craig Blackstone, Elena I. Rugarli, Thomas Langer, William A. Gahl, Camilo Toro

PLoS Genet. 2011 Oct; 7(10): e1002325. Published online 2011 Oct 13. doi: 10.1371/journal.pgen.1002325

Correction in:: PLoS Genet. 2013 Feb; 9(2): 10.1371/annotation/273d7d98-3a1b-494b-839e-de31a0f33d28.

PMCID:: PMC3192828

Abstract Article PDF–2.2M

Select item 31780595.

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 29873786.

Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation

Ulf Edener, Janine Wöllner, Ute Hehr, Zacharias Kohl, Stefan Schilling, Friedmar Kreuz, Peter Bauer, Veronica Bernard, Gabriele Gillessen-Kaesbach, Christine Zühlke

Eur J Hum Genet. 2010 Aug; 18(8): 965–968. Published online 2010 Mar 31. doi: 10.1038/ejhg.2010.40

PMCID:: PMC2987378

Abstract Article PDF–210K

Select item 28062857.

Regulation of OPA1 processing and mitochondrial fusion by m-AAA protease isoenzymes and OMA1

Sarah Ehses, Ines Raschke, Giuseppe Mancuso, Andrea Bernacchia, Stefan Geimer, Daniel Tondera, Jean-Claude Martinou, Benedikt Westermann, Elena I. Rugarli, Thomas Langer

J Cell Biol. 2009 Dec 28; 187(7): 1023–1036. doi: 10.1083/jcb.200906084

PMCID:: PMC2806285

Abstract Article PDF–3.8M

Select item 27788448.

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 27549359.

Autocatalytic Processing of m-AAA Protease Subunits in Mitochondria

Mirko Koppen, Florian Bonn, Sarah Ehses, Thomas Langer

Mol Biol Cell. 2009 Oct 1; 20(19): 4216–4224. doi: 10.1091/mbc.E09-03-0218

PMCID:: PMC2754935

Abstract Article PDF–2.0M

Select item 13924110.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

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