Freyer C - Search Results

1

A Phenotype-Driven Approach to Generate Mouse Models with Pathogenic mtDNA Mutations Causing Mitochondrial Disease.

Kauppila JHK, Baines HL, Bratic A, Simard ML, Freyer C, Mourier A, Stamp C, Filograna R, Larsson NG, Greaves LC, Stewart JB. Kauppila JHK, et al. Among authors: freyer c. Cell Rep. 2016 Sep 13;16(11):2980-2990. doi: 10.1016/j.celrep.2016.08.037. Cell Rep. 2016. PMID: 27626666 Free PMC article.

2

Purifying selection of mtDNA and its implications for understanding evolution and mitochondrial disease.

Stewart JB, Freyer C, Elson JL, Larsson NG. Stewart JB, et al. Among authors: freyer c. Nat Rev Genet. 2008 Sep;9(9):657-62. doi: 10.1038/nrg2396. Nat Rev Genet. 2008. PMID: 18695671 Review.

3

No recombination of mtDNA after heteroplasmy for 50 generations in the mouse maternal germline.

Hagström E, Freyer C, Battersby BJ, Stewart JB, Larsson NG. Hagström E, et al. Among authors: freyer c. Nucleic Acids Res. 2014 Jan;42(2):1111-6. doi: 10.1093/nar/gkt969. Epub 2013 Oct 25. Nucleic Acids Res. 2014. PMID: 24163253 Free PMC article.

4

Is energy deficiency good in moderation?

Freyer C, Larsson NG. Freyer C, et al. Cell. 2007 Nov 2;131(3):448-50. doi: 10.1016/j.cell.2007.10.027. Cell. 2007. PMID: 17981112 Free article.

5

Strong purifying selection in transmission of mammalian mitochondrial DNA.

Stewart JB, Freyer C, Elson JL, Wredenberg A, Cansu Z, Trifunovic A, Larsson NG. Stewart JB, et al. Among authors: freyer c. PLoS Biol. 2008 Jan;6(1):e10. doi: 10.1371/journal.pbio.0060010. PLoS Biol. 2008. PMID: 18232733 Free PMC article.

6

MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome.

Naess K, Freyer C, Bruhn H, Wibom R, Malm G, Nennesmo I, von Döbeln U, Larsson NG. Naess K, et al. Among authors: freyer c. Biochim Biophys Acta. 2009 May;1787(5):484-90. doi: 10.1016/j.bbabio.2008.11.014. Epub 2008 Dec 6. Biochim Biophys Acta. 2009. PMID: 19103152 Free article.

7

Ultra-deep sequencing of mouse mitochondrial DNA: mutational patterns and their origins.

Ameur A, Stewart JB, Freyer C, Hagström E, Ingman M, Larsson NG, Gyllensten U. Ameur A, et al. Among authors: freyer c. PLoS Genet. 2011 Mar;7(3):e1002028. doi: 10.1371/journal.pgen.1002028. Epub 2011 Mar 24. PLoS Genet. 2011. PMID: 21455489 Free PMC article.

8

Variation in germline mtDNA heteroplasmy is determined prenatally but modified during subsequent transmission.

Freyer C, Cree LM, Mourier A, Stewart JB, Koolmeister C, Milenkovic D, Wai T, Floros VI, Hagström E, Chatzidaki EE, Wiesner RJ, Samuels DC, Larsson NG, Chinnery PF. Freyer C, et al. Nat Genet. 2012 Nov;44(11):1282-5. doi: 10.1038/ng.2427. Epub 2012 Oct 7. Nat Genet. 2012. PMID: 23042113 Free PMC article.

9

MTERF3 regulates mitochondrial ribosome biogenesis in invertebrates and mammals.

Wredenberg A, Lagouge M, Bratic A, Metodiev MD, Spåhr H, Mourier A, Freyer C, Ruzzenente B, Tain L, Grönke S, Baggio F, Kukat C, Kremmer E, Wibom R, Polosa PL, Habermann B, Partridge L, Park CB, Larsson NG. Wredenberg A, et al. Among authors: freyer c. PLoS Genet. 2013;9(1):e1003178. doi: 10.1371/journal.pgen.1003178. Epub 2013 Jan 3. PLoS Genet. 2013. PMID: 23300484 Free PMC article.

10

TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication.

Milenkovic D, Matic S, Kühl I, Ruzzenente B, Freyer C, Jemt E, Park CB, Falkenberg M, Larsson NG. Milenkovic D, et al. Among authors: freyer c. Hum Mol Genet. 2013 May 15;22(10):1983-93. doi: 10.1093/hmg/ddt051. Epub 2013 Feb 7. Hum Mol Genet. 2013. PMID: 23393161 Free PMC article.

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