Fontanesi F - Search Results

1

Insights into the genotype-phenotype correlation and molecular function of SLC25A46.

Abrams AJ, Fontanesi F, Tan NBL, Buglo E, Campeanu IJ, Rebelo AP, Kornberg AJ, Phelan DG, Stark Z, Zuchner S. Abrams AJ, et al. Among authors: fontanesi f. Hum Mutat. 2018 Dec;39(12):1995-2007. doi: 10.1002/humu.23639. Epub 2018 Sep 17. Hum Mutat. 2018. PMID: 30178502 Free PMC article.

2

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.

Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez MA, Campeanu IJ, Griffin LB, Groenewald S, Strickland AV, Tao F, Speziani F, Abreu L, Schüle R, Caporali L, La Morgia C, Maresca A, Liguori R, Lodi R, Ahmed ZM, Sund KL, Wang X, Krueger LA, Peng Y, Prada CE, Prows CA, Schorry EK, Antonellis A, Zimmerman HH, Abdul-Rahman OA, Yang Y, Downes SM, Prince J, Fontanesi F, Barrientos A, Németh AH, Carelli V, Huang T, Zuchner S, Dallman JE. Abrams AJ, et al. Among authors: fontanesi f. Nat Genet. 2015 Aug;47(8):926-32. doi: 10.1038/ng.3354. Epub 2015 Jul 13. Nat Genet. 2015. PMID: 26168012 Free PMC article.

3

Transcriptional activators HAP/NF-Y rescue a cytochrome c oxidase defect in yeast and human cells.

Fontanesi F, Jin C, Tzagoloff A, Barrientos A. Fontanesi F, et al. Hum Mol Genet. 2008 Mar 15;17(6):775-88. doi: 10.1093/hmg/ddm349. Epub 2007 Nov 27. Hum Mol Genet. 2008. PMID: 18045776

4

Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy.

Palmieri L, Alberio S, Pisano I, Lodi T, Meznaric-Petrusa M, Zidar J, Santoro A, Scarcia P, Fontanesi F, Lamantea E, Ferrero I, Zeviani M. Palmieri L, et al. Among authors: fontanesi f. Hum Mol Genet. 2005 Oct 15;14(20):3079-88. doi: 10.1093/hmg/ddi341. Epub 2005 Sep 9. Hum Mol Genet. 2005. PMID: 16155110

5

Evaluation of the mitochondrial respiratory chain and oxidative phosphorylation system using yeast models of OXPHOS deficiencies.

Fontanesi F, Diaz F, Barrientos A. Fontanesi F, et al. Curr Protoc Hum Genet. 2009 Oct;Chapter 19:Unit19.5. doi: 10.1002/0471142905.hg1905s63. Curr Protoc Hum Genet. 2009. PMID: 19806592 Free PMC article.

6

Cytochrome c oxidase biogenesis: new levels of regulation.

Fontanesi F, Soto IC, Barrientos A. Fontanesi F, et al. IUBMB Life. 2008 Sep;60(9):557-68. doi: 10.1002/iub.86. IUBMB Life. 2008. PMID: 18465791 Free PMC article. Review.

7

Biogenesis and assembly of eukaryotic cytochrome c oxidase catalytic core.

Soto IC, Fontanesi F, Liu J, Barrientos A. Soto IC, et al. Among authors: fontanesi f. Biochim Biophys Acta. 2012 Jun;1817(6):883-97. doi: 10.1016/j.bbabio.2011.09.005. Epub 2011 Sep 16. Biochim Biophys Acta. 2012. PMID: 21958598 Free PMC article. Review.

8

Mitochondrial ribosome assembly in health and disease.

De Silva D, Tu YT, Amunts A, Fontanesi F, Barrientos A. De Silva D, et al. Among authors: fontanesi f. Cell Cycle. 2015;14(14):2226-50. doi: 10.1080/15384101.2015.1053672. Epub 2015 Jun 1. Cell Cycle. 2015. PMID: 26030272 Free PMC article. Review.

9

HIGD-Driven Regulation of Cytochrome c Oxidase Biogenesis and Function.

Timón-Gómez A, Bartley-Dier EL, Fontanesi F, Barrientos A. Timón-Gómez A, et al. Among authors: fontanesi f. Cells. 2020 Dec 6;9(12):2620. doi: 10.3390/cells9122620. Cells. 2020. PMID: 33291261 Free PMC article. Review.

10

Evaluation of the mitochondrial respiratory chain and oxidative phosphorylation system using polarography and spectrophotometric enzyme assays.

Barrientos A, Fontanesi F, Díaz F. Barrientos A, et al. Among authors: fontanesi f. Curr Protoc Hum Genet. 2009 Oct;Chapter 19:Unit19.3. doi: 10.1002/0471142905.hg1903s63. Curr Protoc Hum Genet. 2009. PMID: 19806590 Free PMC article.

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