Macao B - Search Results

1

Selective mitochondrial DNA degradation following double-strand breaks.

Moretton A, Morel F, Macao B, Lachaume P, Ishak L, Lefebvre M, Garreau-Balandier I, Vernet P, Falkenberg M, Farge G. Moretton A, et al. Among authors: macao b. PLoS One. 2017 Apr 28;12(4):e0176795. doi: 10.1371/journal.pone.0176795. eCollection 2017. PLoS One. 2017. PMID: 28453550 Free PMC article.

2

Sequence-specific stalling of DNA polymerase γ and the effects of mutations causing progressive ophthalmoplegia.

Atanassova N, Fusté JM, Wanrooij S, Macao B, Goffart S, Bäckström S, Farge G, Khvorostov I, Larsson NG, Spelbrink JN, Falkenberg M. Atanassova N, et al. Among authors: macao b. Hum Mol Genet. 2011 Mar 15;20(6):1212-23. doi: 10.1093/hmg/ddq565. Epub 2011 Jan 12. Hum Mol Genet. 2011. PMID: 21228000

3

Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia [corrected].

Roos S, Macao B, Fusté JM, Lindberg C, Jemt E, Holme E, Moslemi AR, Oldfors A, Falkenberg M. Roos S, et al. Among authors: macao b. Hum Mol Genet. 2013 Jun 15;22(12):2411-22. doi: 10.1093/hmg/ddt094. Epub 2013 Feb 27. Hum Mol Genet. 2013. PMID: 23446635

4

The exonuclease activity of DNA polymerase γ is required for ligation during mitochondrial DNA replication.

Macao B, Uhler JP, Siibak T, Zhu X, Shi Y, Sheng W, Olsson M, Stewart JB, Gustafsson CM, Falkenberg M. Macao B, et al. Nat Commun. 2015 Jun 22;6:7303. doi: 10.1038/ncomms8303. Nat Commun. 2015. PMID: 26095671 Free PMC article.

5

Complementation between polymerase- and exonuclease-deficient mitochondrial DNA polymerase mutants in genomically engineered flies.

Bratic A, Kauppila TE, Macao B, Grönke S, Siibak T, Stewart JB, Baggio F, Dols J, Partridge L, Falkenberg M, Wredenberg A, Larsson NG. Bratic A, et al. Among authors: macao b. Nat Commun. 2015 Nov 10;6:8808. doi: 10.1038/ncomms9808. Nat Commun. 2015. PMID: 26554610 Free PMC article.

6

A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma.

Siibak T, Clemente P, Bratic A, Bruhn H, Kauppila TES, Macao B, Schober FA, Lesko N, Wibom R, Naess K, Nennesmo I, Wedell A, Peter B, Freyer C, Falkenberg M, Wredenberg A. Siibak T, et al. Among authors: macao b. Hum Mol Genet. 2017 Jul 1;26(13):2515-2525. doi: 10.1093/hmg/ddx146. Hum Mol Genet. 2017. PMID: 28430993 Free PMC article.

7

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.

Del Dotto V, Ullah F, Di Meo I, Magini P, Gusic M, Maresca A, Caporali L, Palombo F, Tagliavini F, Baugh EH, Macao B, Szilagyi Z, Peron C, Gustafson MA, Khan K, La Morgia C, Barboni P, Carbonelli M, Valentino ML, Liguori R, Shashi V, Sullivan J, Nagaraj S, El-Dairi M, Iannaccone A, Cutcutache I, Bertini E, Carrozzo R, Emma F, Diomedi-Camassei F, Zanna C, Armstrong M, Page M, Stong N, Boesch S, Kopajtich R, Wortmann S, Sperl W, Davis EE, Copeland WC, Seri M, Falkenberg M, Prokisch H, Katsanis N, Tiranti V, Pippucci T, Carelli V. Del Dotto V, et al. Among authors: macao b. J Clin Invest. 2020 Jan 2;130(1):108-125. doi: 10.1172/JCI128514. J Clin Invest. 2020. PMID: 31550240 Free PMC article.

8

Deep sequencing of mitochondrial DNA and characterization of a novel POLG mutation in a patient with arPEO.

Hedberg-Oldfors C, Macao B, Basu S, Lindberg C, Peter B, Erdinc D, Uhler JP, Larsson E, Falkenberg M, Oldfors A. Hedberg-Oldfors C, et al. Among authors: macao b. Neurol Genet. 2020 Jan 10;6(1):e391. doi: 10.1212/NXG.0000000000000391. eCollection 2020 Feb. Neurol Genet. 2020. PMID: 32042919 Free PMC article.

9

Functional analysis of a novel POLγA mutation associated with a severe perinatal mitochondrial encephalomyopathy.

Darin N, Siibak T, Peter B, Hedberg-Oldfors C, Kollberg G, Kalbin V, Moslemi AR, Macao B, Oldfors A, Falkenberg M. Darin N, et al. Among authors: macao b. Neuromuscul Disord. 2021 Apr;31(4):348-358. doi: 10.1016/j.nmd.2021.01.004. Epub 2021 Jan 12. Neuromuscul Disord. 2021. PMID: 33579567 Free article.

10

DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion.

Silva-Pinheiro P, Pardo-Hernández C, Reyes A, Tilokani L, Mishra A, Cerutti R, Li S, Rozsivalova DH, Valenzuela S, Dogan SA, Peter B, Fernández-Silva P, Trifunovic A, Prudent J, Minczuk M, Bindoff L, Macao B, Zeviani M, Falkenberg M, Viscomi C. Silva-Pinheiro P, et al. Among authors: macao b. Nucleic Acids Res. 2021 May 21;49(9):5230-5248. doi: 10.1093/nar/gkab282. Nucleic Acids Res. 2021. PMID: 33956154 Free PMC article.

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