Metabolic regulation of neurodifferentiation in the adult brain
Maffezzini, Camilla, Calvo-Garrido, Javier, Wredenberg, Anna, Freyer, Christoph
Published in Cellular and molecular life sciences : CMLS (01.07.2020)
Published in Cellular and molecular life sciences : CMLS (01.07.2020)
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Strong purifying selection in transmission of mammalian mitochondrial DNA
Stewart, James Bruce, Freyer, Christoph, Elson, Joanna L, Wredenberg, Anna, Cansu, Zekiye, Trifunovic, Aleksandra, Larsson, Nils-Göran
Published in PLoS biology (01.01.2008)
Published in PLoS biology (01.01.2008)
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Defects of mitochondrial RNA turnover lead to the accumulation of double-stranded RNA in vivo
Pajak, Aleksandra, Laine, Isabelle, Clemente, Paula, El-Fissi, Najla, Schober, Florian A, Maffezzini, Camilla, Calvo-Garrido, Javier, Wibom, Rolf, Filograna, Roberta, Dhir, Ashish, Wedell, Anna, Freyer, Christoph, Wredenberg, Anna
Published in PLoS genetics (01.07.2019)
Published in PLoS genetics (01.07.2019)
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Ultra-deep sequencing of mouse mitochondrial DNA: mutational patterns and their origins
Ameur, Adam, Stewart, James B, Freyer, Christoph, Hagström, Erik, Ingman, Max, Larsson, Nils-Göran, Gyllensten, Ulf
Published in PLoS genetics (01.03.2011)
Published in PLoS genetics (01.03.2011)
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Regulation of DNA replication at the end of the mitochondrial D-loop involves the helicase TWINKLE and a conserved sequence element
Jemt, Elisabeth, Persson, Örjan, Shi, Yonghong, Mehmedovic, Majda, Uhler, Jay P, Dávila López, Marcela, Freyer, Christoph, Gustafsson, Claes M, Samuelsson, Tore, Falkenberg, Maria
Published in Nucleic acids research (30.10.2015)
Published in Nucleic acids research (30.10.2015)
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A Phenotype-Driven Approach to Generate Mouse Models with Pathogenic mtDNA Mutations Causing Mitochondrial Disease
Kauppila, Johanna H.K., Baines, Holly L., Bratic, Ana, Simard, Marie-Lune, Freyer, Christoph, Mourier, Arnaud, Stamp, Craig, Filograna, Roberta, Larsson, Nils-Göran, Greaves, Laura C., Stewart, James B.
Published in Cell reports (Cambridge) (13.09.2016)
Published in Cell reports (Cambridge) (13.09.2016)
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Mitochondrial Polyadenylation Is a One-Step Process Required for mRNA Integrity and tRNA Maturation
Bratic, Ana, Clemente, Paula, Calvo-Garrido, Javier, Maffezzini, Camilla, Felser, Andrea, Wibom, Rolf, Wedell, Anna, Freyer, Christoph, Wredenberg, Anna
Published in PLoS genetics (13.05.2016)
Published in PLoS genetics (13.05.2016)
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Absence of TXNIP in Humans Leads to Lactic Acidosis and Low Serum Methionine Linked to Deficient Respiration on Pyruvate
Katsu-Jiménez, Yurika, Vázquez-Calvo, Carmela, Maffezzini, Camilla, Halldin, Maria, Peng, Xiaoxiao, Freyer, Christoph, Wredenberg, Anna, Giménez-Cassina, Alfredo, Wedell, Anna, Arnér, Elias S J
Published in Diabetes (New York, N.Y.) (01.04.2019)
Published in Diabetes (New York, N.Y.) (01.04.2019)
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Variation in germline mtDNA heteroplasmy is determined prenatally but modified during subsequent transmission
FREYER, Christoph, CREE, Lynsey M, WIESNER, Rudolf J, SAMUELS, David C, LARSSON, Nils-Göran, CHINNERY, Patrick F, MOURIER, Arnaud, STEWART, James B, KOOLMEISTER, Camilla, MILENKOVIC, Dusanka, WAI, Timothy, FLOROS, Vasileios I, HAGSTRÖM, Erik, CHATZIDAKI, Emmanouella E
Published in Nature genetics (01.11.2012)
Published in Nature genetics (01.11.2012)
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ANGEL2 phosphatase activity is required for non-canonical mitochondrial RNA processing
Clemente, Paula, Calvo-Garrido, Javier, Pearce, Sarah F, Schober, Florian A, Shigematsu, Megumi, Siira, Stefan J, Laine, Isabelle, Spåhr, Henrik, Steinmetzger, Christian, Petzold, Katja, Kirino, Yohei, Wibom, Rolf, Rackham, Oliver, Filipovska, Aleksandra, Rorbach, Joanna, Freyer, Christoph, Wredenberg, Anna
Published in Nature communications (30.09.2022)
Published in Nature communications (30.09.2022)
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MTERF3 regulates mitochondrial ribosome biogenesis in invertebrates and mammals
Wredenberg, Anna, Lagouge, Marie, Bratic, Ana, Metodiev, Metodi D, Spåhr, Henrik, Mourier, Arnaud, Freyer, Christoph, Ruzzenente, Benedetta, Tain, Luke, Grönke, Sebastian, Baggio, Francesca, Kukat, Christian, Kremmer, Elisabeth, Wibom, Rolf, Polosa, Paola Loguercio, Habermann, Bianca, Partridge, Linda, Park, Chan Bae, Larsson, Nils-Göran
Published in PLoS genetics (01.01.2013)
Published in PLoS genetics (01.01.2013)
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SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation
Calvo-Garrido, Javier, Maffezzini, Camilla, Schober, Florian A., Clemente, Paula, Uhlin, Elias, Kele, Malin, Stranneheim, Henrik, Lesko, Nicole, Bruhn, Helene, Svenningsson, Per, Falk, Anna, Wedell, Anna, Freyer, Christoph, Wredenberg, Anna
Published in Stem cell reports (09.04.2019)
Published in Stem cell reports (09.04.2019)
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Protocol for the derivation, culturing, and differentiation of human iPS-cell-derived neuroepithelial stem cells to study neural differentiation in vitro
Calvo-Garrido, Javier, Winn, Dania, Maffezzini, Camilla, Wedell, Anna, Freyer, Christoph, Falk, Anna, Wredenberg, Anna
Published in STAR protocols (18.06.2021)
Published in STAR protocols (18.06.2021)
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A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma
Siibak, Triinu, Clemente, Paula, Bratic, Ana, Bruhn, Helene, Kauppila, Timo E S, Macao, Bertil, Schober, Florian A, Lesko, Nicole, Wibom, Rolf, Naess, Karin, Nennesmo, Inger, Wedell, Anna, Peter, Bradley, Freyer, Christoph, Falkenberg, Maria, Wredenberg, Anna
Published in Human molecular genetics (01.07.2017)
Published in Human molecular genetics (01.07.2017)
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Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model
Tegelberg, Saara, Tomašić, Nikica, Kallijärvi, Jukka, Purhonen, Janne, Elmér, Eskil, Lindberg, Eva, Nord, David Gisselsson, Soller, Maria, Lesko, Nicole, Wedell, Anna, Bruhn, Helene, Freyer, Christoph, Stranneheim, Henrik, Wibom, Rolf, Nennesmo, Inger, Wredenberg, Anna, Eklund, Erik A, Fellman, Vineta
Published in Orphanet journal of rare diseases (20.04.2017)
Published in Orphanet journal of rare diseases (20.04.2017)
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Mutations in the mitochondrial tryptophanyl‐tRNA synthetase cause growth retardation and progressive leukoencephalopathy
Maffezzini, Camilla, Laine, Isabelle, Dallabona, Cristina, Clemente, Paula, Calvo‐Garrido, Javier, Wibom, Rolf, Naess, Karin, Barbaro, Michela, Falk, Anna, Donnini, Claudia, Freyer, Christoph, Wredenberg, Anna, Wedell, Anna
Published in Molecular genetics & genomic medicine (01.06.2019)
Published in Molecular genetics & genomic medicine (01.06.2019)
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Hierarchical S-adenosylmethionine dependency in mitochondria in heart and skeletal muscle
Rumyantseva, Anastasia, Rosenberg, Florian, Moedas, Marco, Glasgow, Ruth, Pironti, Gianluigi, Bruton, Joseph, Wedell, Anna, Hinze, Yvonne, Freyer, Christoph, Wredenberg, Anna
Published in Biochimica et biophysica acta. Molecular basis of disease (01.12.2024)
Published in Biochimica et biophysica acta. Molecular basis of disease (01.12.2024)
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The molecular machinery for maturation of primary mtDNA transcripts
Vučković, Ana, Freyer, Christoph, Wredenberg, Anna, Hillen, Hauke S
Published in Human molecular genetics (22.05.2024)
Published in Human molecular genetics (22.05.2024)
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Journal Article
Germline mitochondrial DNA mutations aggravate ageing and can impair brain development
Ross, Jaime M, Stewart, James B, Hagström, Erik, Brené, Stefan, Mourier, Arnaud, Coppotelli, Giuseppe, Freyer, Christoph, Lagouge, Marie, Hoffer, Barry J, Olson, Lars, Larsson, Nils-Göran
Published in Nature (London) (19.09.2013)
Published in Nature (London) (19.09.2013)
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