Peter B - Search Results

1

POLRMT mutations impair mitochondrial transcription causing neurological disease.

Oláhová M, Peter B, Szilagyi Z, Diaz-Maldonado H, Singh M, Sommerville EW, Blakely EL, Collier JJ, Hoberg E, Stránecký V, Hartmannová H, Bleyer AJ, McBride KL, Bowden SA, Korandová Z, Pecinová A, Ropers HH, Kahrizi K, Najmabadi H, Tarnopolsky MA, Brady LI, Weaver KN, Prada CE, Õunap K, Wojcik MH, Pajusalu S, Syeda SB, Pais L, Estrella EA, Bruels CC, Kunkel LM, Kang PB, Bonnen PE, Mráček T, Kmoch S, Gorman GS, Falkenberg M, Gustafsson CM, Taylor RW. Oláhová M, et al. Among authors: peter b. Nat Commun. 2021 Feb 18;12(1):1135. doi: 10.1038/s41467-021-21279-0. Nat Commun. 2021. PMID: 33602924 Free PMC article.

2

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: peter 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.

3

Defective mitochondrial protease LonP1 can cause classical mitochondrial disease.

Peter B, Waddington CL, Oláhová M, Sommerville EW, Hopton S, Pyle A, Champion M, Ohlson M, Siibak T, Chrzanowska-Lightowlers ZMA, Taylor RW, Falkenberg M, Lightowlers RN. Peter B, et al. Hum Mol Genet. 2018 May 15;27(10):1743-1753. doi: 10.1093/hmg/ddy080. Hum Mol Genet. 2018. PMID: 29518248 Free PMC article.

4

A two-nuclease pathway involving RNase H1 is required for primer removal at human mitochondrial OriL.

Al-Behadili A, Uhler JP, Berglund AK, Peter B, Doimo M, Reyes A, Wanrooij S, Zeviani M, Falkenberg M. Al-Behadili A, et al. Among authors: peter b. Nucleic Acids Res. 2018 Oct 12;46(18):9471-9483. doi: 10.1093/nar/gky708. Nucleic Acids Res. 2018. PMID: 30102370 Free PMC article.

5

Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase.

Peter B, Farge G, Pardo-Hernandez C, Tångefjord S, Falkenberg M. Peter B, et al. Hum Mol Genet. 2019 Apr 1;28(7):1090-1099. doi: 10.1093/hmg/ddy415. Hum Mol Genet. 2019. PMID: 30496414 Free PMC article.

6

Corrigendum to: Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase.

Peter B, Farge G, Pardo-Hernandez C, Tångefjord S, Falkenberg M. Peter B, et al. Hum Mol Genet. 2020 Feb 1;29(3):528. doi: 10.1093/hmg/ddz257. Hum Mol Genet. 2020. PMID: 31942986 Free PMC article. No abstract available.

7

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: peter 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.

8

TWINKLE and Other Human Mitochondrial DNA Helicases: Structure, Function and Disease.

Peter B, Falkenberg M. Peter B, et al. Genes (Basel). 2020 Apr 9;11(4):408. doi: 10.3390/genes11040408. Genes (Basel). 2020. PMID: 32283748 Free PMC article. Review.

9

Small-molecule inhibitors of human mitochondrial DNA transcription.

Bonekamp NA, Peter B, Hillen HS, Felser A, Bergbrede T, Choidas A, Horn M, Unger A, Di Lucrezia R, Atanassov I, Li X, Koch U, Menninger S, Boros J, Habenberger P, Giavalisco P, Cramer P, Denzel MS, Nussbaumer P, Klebl B, Falkenberg M, Gustafsson CM, Larsson NG. Bonekamp NA, et al. Among authors: peter b. Nature. 2020 Dec;588(7839):712-716. doi: 10.1038/s41586-020-03048-z. Epub 2020 Dec 16. Nature. 2020. PMID: 33328633

10

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: peter 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.

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