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- Bertil Macao
Bertil Macao
Researcher
Department of Medical Biochemistry and Cell-
The disease-causing mutation p.F907I reveals a novel pathogenic mechanism for POL?-related
diseases
Direnis Erdinc, Bertil Macao, Sebastian Valenzuela, N. Lesko, K. Naess, Bradley Peter, H. Bruhn, A. Wedell, A. Wredenberg, Maria Falkenberg
Biochimica Et Biophysica Acta-Molecular Basis of Disease - 2023 -
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective
Study
M. Percetti, G. Franco, E. Monfrini, L. Caporali, R. Minardi, C. La Morgia, M. L. Valentino, R. Liguori, I. Palmieri, D. Ottaviani, M. Vizziello, D. Ronchi, F. Di Berardino, A. Cocco, Bertil Macao, Maria Falkenberg, G. P. Comi, A. Albanese, B. Giometto, E. M. Valente, V. Carelli, A. Di Fonzo
Movement Disorders - 2022 -
The mitochondrial single-stranded DNA binding protein is essential for initiation of mtDNA
replication
M. Jiang, Xie Xie, Xuefeng Zhu, S. Jiang, D. Milenkovic, J. Misic, Yonghong Shi, N. Tandukar, X. Li, I. Atanassov, Louise Jenninger, Emily Hoberg, S. Albarran-Gutierrez, Zsolt Szilagyi, Bertil Macao, S. J. Siira, V. Carelli, J. D. Griffith, Claes M Gustafsson, T. J. Nicholls, A. Filipovska, N. G. Larsson, Maria Falkenberg
Science Advances - 2021 -
DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit
depletion
P. Silva-Pinheiro, Carlos Pardo-Hernandez, A. Reyes, L. Tilokani, Anup Mishra, R. Cerutti, S. F. Li, D. H. Rozsivalova, Sebastian Valenzuela, S. A. Dogan, Bradley Peter, P. Fernandez-Silva, A. Trifunovic, J. Prudent, M. Minczuk, L. Bindoff, Bertil Macao, M. Zeviani, Maria Falkenberg, C. Viscomi
Nucleic Acids Research - 2021 -
Functional analysis of a novel POL gamma A mutation associated with a severe perinatal mitochondrial
encephalomyopathy
Niklas Darin, Triinu Siibak, Bradley Peter, Carola Oldfors Hedberg, Gittan Kollberg, Vassili Kalbin, Ali-Reza Moslemi, Bertil Macao, Anders Oldfors, Maria Falkenberg
Neuromuscular Disorders - 2021 -
Deep sequencing of mitochondrial DNA and characterization of a novel POLG mutation in a patient with
arPEO.
Carola Oldfors Hedberg, Bertil Macao, Swaraj Basu, Christopher Lindberg, Bradley Peter, Jay (Jennifer) Uhler, Erik Larsson, Maria Falkenberg, Anders Oldfors
Neurology. Genetics - 2020 -
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy
disorder
V. Del Dotto, F. Ullah, I. Di Meo, P. Magini, M. Gusic, A. Maresca, L. Caporali, F. Palombo, F. Tagliavini, E. H. Baugh, Bertil Macao, Zsolt Szilagyi, C. Peron, M. A. Gustafson, K. Khan, C. La Morgia, P. Barboni, M. Carbonelli, M. L. Valentino, R. Liguori, V. Shashi, J. Sullivan, S. Nagaraj, M. El-Dairi, A. Iannaccone, I. Cutcutache, E. Bertini, R. Carrozzo, F. Emma, F. Diomedi-Camassei, C. Zanna, M. Armstrong, M. Page, N. Stong, S. Boesch, R. Kopajtich, S. Wortmann, W. Sperl, E. E. Davis, W. C. Copeland, M. Seri, Maria Falkenberg, H. Prokisch, N. Katsanis, V. Tiranti, T. Pippucci, V. Carelli
Journal of Clinical Investigation - 2020 -
A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase
gamma
Triinu Siibak, P. Clemente, A. Bratic, H. Bruhn, T. E. S. Kauppila, Bertil Macao, F. A. Schober, N. Lesko, R. Wibom, K. Naess, I. Nennesmo, A. Wedell, Bradley Peter, C. Freyer, Maria Falkenberg
Human Molecular Genetics - 2017 -
Selective mitochondrial DNA degradation following double-strand
breaks
A. Moretton, F. Morel, Bertil Macao, P. Lachaume, L. Ishak, M. Lefebvre, I. Garreau-Balandier, P. Vernet, Maria Falkenberg, G. Farge
Plos One - 2017 -
Complementation between polymerase- and exonuclease-deficient mitochondrial DNA polymerase mutants in genomically engineered
flies
A. Bratic, T. E. S. Kauppila, Bertil Macao, S. Grönke, Triinu Siibak, J. B. Stewart, F. Baggio, J. Dols, L. Partridge, Maria Falkenberg, A. Wredenberg, N. G. Larsson
Nature Communications - 2015 -
The exonuclease activity of DNA polymerase gamma is required for ligation during mitochondrial DNA
replication
Bertil Macao, Jay (Jennifer) Uhler, Triinu Siibak, Xuefeng Zhu, Yonghong Shi, Wenwen Sheng, Monica Olsson, J. B. Stewart, Claes M Gustafsson, Maria Falkenberg
Nature Communications - 2015 -
Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119
subdomain
Carola Hedberg, Alejandro Gomez Toledo, Claes M Gustafsson, Göran Larson, Anders Oldfors, Bertil Macao
Neuromuscular Disorders - 2014 -
Subnormal levels of POLgA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external
ophthalmoplegia
Sara Roos, Bertil Macao, Javier Miralles Fusté, Christopher Lindberg, Elisabeth Jemt, Elisabeth Holme, Ali-Reza Moslemi, Anders Oldfors, Maria Falkenberg
Human Molecular Genetics - 2013 -
Sequence-specific stalling of DNA polymerase gamma and the effects of mutations causing progressive
ophthalmoplegia
N Atanassova, Javier Miralles Fusté, Sjoerd Wanrooij, Bertil Macao, S Goffart, Stefan Bäckström, G Farge, I Khvorostov, NG Larsson, JN Spelbrink, Maria Falkenberg
Human Molecular Genetics - 2011 -
Sequestration of the Abeta peptide prevents toxicity and promotes degradation in
vivo.
Leila M Luheshi, Wolfgang Hoyer, Teresa Pereira de Barros, Iris van Dijk Härd, Ann-Christin Brorsson, Bertil Macao, Cecilia Persson, Damian C Crowther, David A Lomas, Stefan Ståhl, Christopher M Dobson, Torleif Härd
PLoS biology - 2010 -
Stabilization of neurotoxic Alzheimer amyloid-beta oligomers by protein
engineering
Anders Sandberg, Leila M. Luheshi, Sofia Sollvander, Teresa Pereira de Barros, Bertil Macao, Tuomas P. J. Knowles, Henrik Biverstal, Christofer Lendel, Frida Ekholm-Petterson, Anatoly Dubnovitsky, Lars Lannfelt, Christopher M. Dobson, Torleif Hard
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA - 2010 -
Highly efficient incorporation of the fluorescent nucleotide analogs tC and tC(O) by Klenow
fragment
Peter Sandin, G. Stengel, Thomas Ljungdahl, Karl Börjesson, Bertil Macao, Marcus Wilhelmsson
Nucleic Acids Research - 2009 -
Protein autoproteolysis: conformational strain linked to the rate of peptide cleavage by the pH dependence of the N --> O acyl shift
reaction.
Denny Johansson, Göran Wallin, Anders Sandberg, Bertil Macao, Johan Aqvist, Torleif Härd
Journal of the American Chemical Society - 2009 -
Recombinant amyloid beta-peptide production by coexpression with an affibody
ligand.
Bertil Macao, Wolfgang Hoyer, Anders Sandberg, Ann-Christin Brorsson, Christopher M Dobson, Torleif Härd
BMC biotechnology - 2008 -
SEA domain autoproteolysis accelerated by conformational strain: energetic
aspects.
Anders Sandberg, Denny Johansson, Bertil Macao, Torleif Härd
Journal of molecular biology - 2008 -
Autoproteolysis coupled to protein folding in the SEA domain of the membrane-bound MUC1
mucin.
Bertil Macao, Denny Johansson, Gunnar C. Hansson, Torleif Härd
Nature structural & molecular biology - 2006 -
Functional properties of the herpes simplex virus type I origin-binding protein are controlled by precise interactions with the activated form of the origin of DNA
replication.
Bertil Macao, Monica Olsson, Per Elias
The Journal of biological chemistry - 2004 -
Mechanisms for control of nucleoside triphosphate hydrolysis. Effects of DNA and RNA
co-factors
Bertil Macao
2002 -
Complementary intrastrand base pairing during initiation of Herpes simplex virus type 1 DNA
replication.
Alireza Aslani, Bertil Macao, Stina Simonsson, Per Elias
Proceedings of the National Academy of Sciences of the United States of America - 2001