SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder
V. Del Dotto, F. Ullah, I. Di Meo, P. Magini, M. Gusic et al.
Journal of Clinical Investigation, Journal article 2020
Journal article

Dinucleotide Degradation by REXO2 Maintains Promoter Specificity in Mammalian Mitochondria
Thomas J. Nicholls, H. Spahr, S. Jiang, S. J. Siira, C. Koolmeister et al.
Molecular Cell, Journal article 2019
Journal article

Organization of DNA in mammalian mitochondria
G. É R. Farge, Maria Falkenberg
International Journal of Molecular Sciences, Journal article 2019
Journal article

Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase.
Bradley Peter, Geraldine Farge, Carlos Pardo-Hernandez, Stefan Tångefjord, Maria Falkenberg
Human molecular genetics, Journal article 2019
Journal article

RNase H1 directs origin-specific initiation of DNA replication in human mitochondria
Viktor Posse, Ali Al-Behadili, Jay Uhler, Anders R Clausen, A. Reyes et al.
Plos Genetics, Journal article 2019
Journal article

Copy-choice recombination during mitochondrial L-strand synthesis causes DNA deletions
Örjan Persson, Yazh Muthukumar, Swaraj Basu, Louise Jenninger, Jay Uhler et al.
Nature Communications, Journal article 2019
Journal article

Mitochondrial DNA replication in mammalian cells: overview of the pathway
Maria Falkenberg
Essays in Biochemistry, Review article 2018
Review article

A two-nuclease pathway involving RNase H1 is required for primer removal at human mitochondrial OriL
Ali Al-Behadili, Jay Uhler, Anna-Karin Berglund, Bradley Peter, M. Doimo et al.
Nucleic acids research, Journal article 2018
Journal article

Mice lacking the mitochondrial exonuclease MGME1 accumulate mtDNA deletions without developing progeria
S. Matic, M. Jiang, Thomas J. Nicholls, Jay Uhler, C. Dirksen-Schwanenland et al.
Nature Communications, Journal article 2018
Journal article

Defective mitochondrial protease LonP1 can cause classical mitochondrial disease
Bradley Peter, C. L. Waddington, M. Olahova, E. W. Sommerville, S. Hopton et al.
Human Molecular Genetics, Journal article 2018
Journal article

Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function
Magnus K. Bjursell, HJ Blom, Jorge Asin-Cayuela, ML Engvall, N Lesko et al.
AMERICAN JOURNAL OF HUMAN GENETICS, Journal article 2011
Journal article

Super-resolution microscopy reveals that mammalian mitochondrial nucleoids have a uniform size and frequently contain a single copy of mtDNA
C Kukat, CA Wurm, H Spahr, Maria Falkenberg, NG Larsson et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, Journal article 2011
Journal article

Human mitochondrial transcription revisited: only TFAM and TFB2M are required for transcription of the mitochondrial genes in vitro.
Dmitry Litonin, Marina Sologub, Yonghong Shi, Maria Savkina, Michael Anikin et al.
The Journal of biological chemistry, Journal article 2010
Journal article

Maintenance of respiratory chain function in mouse hearts with severely impaired mtDNA transcription
Christoph Freyer, Chan Bae Park, Mats I. Ekstrand, Yonghong Shi, Julia Khvorostova et al.
NUCLEIC ACIDS RESEARCH, Journal article 2010
Journal article

G-quadruplex structures in RNA stimulate mitochondrial transcription termination and primer formation
Paulina Wanrooij, Jay Uhler, Tomas Simonsson, Maria Falkenberg, Claes M Gustafsson
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, Journal article 2010
Journal article

The human mitochondrial replication fork in health and disease.
Sjoerd Wanrooij, Maria Falkenberg
Biochimica et biophysica acta, Review article 2010
Review article

Mitochondrial RNA polymerase is needed for activation of the origin of light-strand DNA replication.
Javier Miralles Fusté, Sjoerd Wanrooij, Elisabeth Jemt, Caroline E Granycome, Tricia J Cluett et al.
Molecular cell, Journal article 2010
Journal article

Structure-function defects of the twinkle amino-terminal region in progressive external ophthalmoplegia.
Teresa Holmlund, Géraldine Farge, Vineet Pande, Jenny Korhonen, L Nilsson et al.
Biochimica et biophysica acta, Journal article 2009
Journal article

Unraveling the structure of DNA during overstretching by using multicolor, single-molecule fluorescence imaging.
Joost van Mameren, Peter Gross, Geraldine Farge, Pleuni Hooijman, Mauro Modesti et al.
Proceedings of the National Academy of Sciences of the United States of America, Journal article 2009
Journal article

Structure casts light on mtDNA replication.
Maria Falkenberg, Nils-Göran Larsson
Cell, Magazine article 2009
Magazine article