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Bertil Macao

Showing results (11-20 of 24) with videos related to

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Neurology. Genetics|February 12, 2020
Deep sequencing of mitochondrial DNA and characterization of a novel <i>POLG</i> mutation in a patient with arPEOCarola Hedberg-Oldfors, Bertil Macao, Swaraj Basu, et al.
Neuromuscular Disorders : NMD|February 13, 2021
Functional analysis of a novel POLγA mutation associated with a severe perinatal mitochondrial encephalomyopathyNiklas Darin, Triinu Siibak, Bradley Peter, et al.
Nature Communications|June 23, 2015
The exonuclease activity of DNA polymerase γ is required for ligation during mitochondrial DNA replicationBertil Macao, Jay P Uhler, Triinu Siibak, et al.
Human Molecular Genetics|January 14, 2011
Sequence-specific stalling of DNA polymerase γ and the effects of mutations causing progressive ophthalmoplegiaNeli Atanassova, Javier Miralles Fusté, Sjoerd Wanrooij, et al.
Nature Communications|November 12, 2015
Complementation between polymerase- and exonuclease-deficient mitochondrial DNA polymerase mutants in genomically engineered fliesAna Bratic, Timo E S Kauppila, Bertil Macao, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 18, 2010
Stabilization of neurotoxic Alzheimer amyloid-beta oligomers by protein engineeringAnders Sandberg, Leila M Luheshi, Sofia Söllvander, et al.
Plos Biology|March 23, 2010
Sequestration of the Abeta peptide prevents toxicity and promotes degradation in vivoLeila M Luheshi, Wolfgang Hoyer, Teresa Pereira de Barros, et al.
Human Molecular Genetics|April 22, 2017
A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gammaTriinu Siibak, Paula Clemente, Ana Bratic, et al.
Nucleic Acids Research|May 6, 2021
DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletionPedro Silva-Pinheiro, Carlos Pardo-Hernández, Aurelio Reyes, et al.
Nucleic Acids Research|September 14, 2021
Correction to 'DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion'Pedro Silva-Pinheiro, Carlos Pardo-Hernández, Aurelio Reyes, et al.
Pageof 3

Showing results (11-20 of 24) with videos related to

Sort By:
Pageof 3
Neurology. Genetics|February 12, 2020
Deep sequencing of mitochondrial DNA and characterization of a novel <i>POLG</i> mutation in a patient with arPEOCarola Hedberg-Oldfors, Bertil Macao, Swaraj Basu, et al.
Neuromuscular Disorders : NMD|February 13, 2021
Functional analysis of a novel POLγA mutation associated with a severe perinatal mitochondrial encephalomyopathyNiklas Darin, Triinu Siibak, Bradley Peter, et al.
Nature Communications|June 23, 2015
The exonuclease activity of DNA polymerase γ is required for ligation during mitochondrial DNA replicationBertil Macao, Jay P Uhler, Triinu Siibak, et al.
Human Molecular Genetics|January 14, 2011
Sequence-specific stalling of DNA polymerase γ and the effects of mutations causing progressive ophthalmoplegiaNeli Atanassova, Javier Miralles Fusté, Sjoerd Wanrooij, et al.
Nature Communications|November 12, 2015
Complementation between polymerase- and exonuclease-deficient mitochondrial DNA polymerase mutants in genomically engineered fliesAna Bratic, Timo E S Kauppila, Bertil Macao, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 18, 2010
Stabilization of neurotoxic Alzheimer amyloid-beta oligomers by protein engineeringAnders Sandberg, Leila M Luheshi, Sofia Söllvander, et al.
Plos Biology|March 23, 2010
Sequestration of the Abeta peptide prevents toxicity and promotes degradation in vivoLeila M Luheshi, Wolfgang Hoyer, Teresa Pereira de Barros, et al.
Human Molecular Genetics|April 22, 2017
A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gammaTriinu Siibak, Paula Clemente, Ana Bratic, et al.
Nucleic Acids Research|May 6, 2021
DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletionPedro Silva-Pinheiro, Carlos Pardo-Hernández, Aurelio Reyes, et al.
Nucleic Acids Research|September 14, 2021
Correction to 'DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion'Pedro Silva-Pinheiro, Carlos Pardo-Hernández, Aurelio Reyes, et al.
Pageof 3