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AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival.
Almajan ER, Richter R, Paeger L, Martinelli P, Barth E, Decker T, Larsson NG, Kloppenburg P, Langer T, Rugarli EI. Almajan ER, et al. Among authors: rugarli ei. J Clin Invest. 2012 Nov;122(11):4048-58. doi: 10.1172/JCI64604. Epub 2012 Oct 8. J Clin Invest. 2012. PMID: 23041622 Free PMC article.
Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.
Pierson TM, Adams D, Bonn F, Martinelli P, Cherukuri PF, Teer JK, Hansen NF, Cruz P, Mullikin For The Nisc Comparative Sequencing Program JC, Blakesley RW, Golas G, Kwan J, Sandler A, Fuentes Fajardo K, Markello T, Tifft C, Blackstone C, Rugarli EI, Langer T, Gahl WA, Toro C. Pierson TM, et al. Among authors: rugarli ei. PLoS Genet. 2011 Oct;7(10):e1002325. doi: 10.1371/journal.pgen.1002325. Epub 2011 Oct 13. PLoS Genet. 2011. PMID: 22022284 Free PMC article.
Spastin binds to lipid droplets and affects lipid metabolism.
Papadopoulos C, Orso G, Mancuso G, Herholz M, Gumeni S, Tadepalle N, Jüngst C, Tzschichholz A, Schauss A, Höning S, Trifunovic A, Daga A, Rugarli EI. Papadopoulos C, et al. Among authors: rugarli ei. PLoS Genet. 2015 Apr 13;11(4):e1005149. doi: 10.1371/journal.pgen.1005149. eCollection 2015 Apr. PLoS Genet. 2015. PMID: 25875445 Free PMC article.
The m-AAA Protease Associated with Neurodegeneration Limits MCU Activity in Mitochondria.
König T, Tröder SE, Bakka K, Korwitz A, Richter-Dennerlein R, Lampe PA, Patron M, Mühlmeister M, Guerrero-Castillo S, Brandt U, Decker T, Lauria I, Paggio A, Rizzuto R, Rugarli EI, De Stefani D, Langer T. König T, et al. Among authors: rugarli ei. Mol Cell. 2016 Oct 6;64(1):148-162. doi: 10.1016/j.molcel.2016.08.020. Epub 2016 Sep 15. Mol Cell. 2016. PMID: 27642048
77 results