SUV3 helicase is required for correct processing of mitochondrial transcripts

por Clemente, Paula, Pajak, Aleksandra, Laine, Isabelle, Wibom, Rolf, Wedell, Anna, Freyer, Christoph, Wredenberg, Anna
Publicado 2015

Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3

por Ben-Shabat, Ilan, Kvarnung, Malin, Sperker, Wolfgang, Bruhn, Helene, Wredenberg, Anna, Wibom, Rolf, Nennesmo, Inger, Engvall, Martin, Paucar, Martin
Publicado 2023

Mitochondrial Polyadenylation Is a One-Step Process Required for mRNA Integrity and tRNA Maturation

por Bratic, Ana, Clemente, Paula, Calvo-Garrido, Javier, Maffezzini, Camilla, Felser, Andrea, Wibom, Rolf, Wedell, Anna, Freyer, Christoph, Wredenberg, Anna
Publicado 2016

Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON)

por Engvall, Martin, Kawasaki, Aki, Carelli, Valerio, Wibom, Rolf, Bruhn, Helene, Lesko, Nicole, Schober, Florian A., Wredenberg, Anna, Wedell, Anna, Träisk, Frank
Publicado 2021

Maintenance of respiratory chain function in mouse hearts with severely impaired mtDNA transcription

por Freyer, Christoph, Park, Chan Bae, Ekstrand, Mats I., Shi, Yonghong, Khvorostova, Julia, Wibom, Rolf, Falkenberg, Maria, Gustafsson, Claes M., Larsson, Nils-Göran
Publicado 2010

Human mitochondria require mtRF1 for translation termination at non-canonical stop codons

por Krüger, Annika, Remes, Cristina, Shiriaev, Dmitrii Igorevich, Liu, Yong, Spåhr, Henrik, Wibom, Rolf, Atanassov, Ilian, Nguyen, Minh Duc, Cooperman, Barry S., Rorbach, Joanna
Publicado 2023

The Bicoid Stability Factor Controls Polyadenylation and Expression of Specific Mitochondrial mRNAs in Drosophila melanogaster

por Bratic, Ana, Wredenberg, Anna, Grönke, Sebastian, Stewart, James B., Mourier, Arnaud, Ruzzenente, Benedetta, Kukat, Christian, Wibom, Rolf, Habermann, Bianca, Partridge, Linda, Larsson, Nils-Göran
Publicado 2011

Sensory Ataxic Neuropathy in Golden Retriever Dogs Is Caused by a Deletion in the Mitochondrial tRNA(Tyr) Gene

por Baranowska, Izabella, Jäderlund, Karin Hultin, Nennesmo, Inger, Holmqvist, Erik, Heidrich, Nadja, Larsson, Nils-Göran, Andersson, Göran, Wagner, E. Gerhart H., Hedhammar, Åke, Wibom, Rolf, Andersson, Leif
Publicado 2009

Mutations in the mitochondrial tryptophanyl‐tRNA synthetase cause growth retardation and progressive leukoencephalopathy

por 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
Publicado 2019

Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy

por Bruhn, Helene, Samuelsson, Kristin, Schober, Florian A., Engvall, Martin, Lesko, Nicole, Wibom, Rolf, Nennesmo, Inger, Calvo-Garrido, Javier, Press, Rayomand, Stranneheim, Henrik, Freyer, Christoph, Wedell, Anna, Wredenberg, Anna
Publicado 2021

Defects of mitochondrial RNA turnover lead to the accumulation of double-stranded RNA in vivo

por 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
Publicado 2019

A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma

por Siibak, Triinu, Clemente, Paula, Bratic, Ana, Bruhn, Helene, Kauppila, Timo E.S., Macao, Bertil, Rosenberger, Florian A., Lesko, Nicole, Wibom, Rolf, Naess, Karin, Nennesmo, Inger, Wedell, Anna, Peter, Bradley, Freyer, Christoph, Falkenberg, Maria, Wredenberg, Anna
Publicado 2017

Loss of UCP2 Attenuates Mitochondrial Dysfunction without Altering ROS Production and Uncoupling Activity

por Kukat, Alexandra, Dogan, Sukru Anil, Edgar, Daniel, Mourier, Arnaud, Jacoby, Christoph, Maiti, Priyanka, Mauer, Jan, Becker, Christina, Senft, Katharina, Wibom, Rolf, Kudin, Alexei P., Hultenby, Kjell, Flögel, Ulrich, Rosenkranz, Stephan, Ricquier, Daniel, Kunz, Wolfram S., Trifunovic, Aleksandra
Publicado 2014

Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism

por Stranneheim, Henrik, Engvall, Martin, Naess, Karin, Lesko, Nicole, Larsson, Pontus, Dahlberg, Mats, Andeer, Robin, Wredenberg, Anna, Freyer, Chris, Barbaro, Michela, Bruhn, Helene, Emahazion, Tesfail, Magnusson, Måns, Wibom, Rolf, Zetterström, Rolf H, Wirta, Valtteri, von Döbeln, Ulrika, Wedell, Anna
Publicado 2014

Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid

por Freyer, Christoph, Stranneheim, Henrik, Naess, Karin, Mourier, Arnaud, Felser, Andrea, Maffezzini, Camilla, Lesko, Nicole, Bruhn, Helene, Engvall, Martin, Wibom, Rolf, Barbaro, Michela, Hinze, Yvonne, Magnusson, Måns, Andeer, Robin, Zetterström, Rolf H, von Döbeln, Ulrika, Wredenberg, Anna, Wedell, Anna
Publicado 2015

Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model

por 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
Publicado 2017

ANGEL2 phosphatase activity is required for non-canonical mitochondrial RNA processing

por 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
Publicado 2022

TEFM regulates both transcription elongation and RNA processing in mitochondria

por Jiang, Shan, Koolmeister, Camilla, Misic, Jelena, Siira, Stefan, Kühl, Inge, Silva Ramos, Eduardo, Miranda, Maria, Jiang, Min, Posse, Viktor, Lytovchenko, Oleksandr, Atanassov, Ilian, Schober, Florian A, Wibom, Rolf, Hultenby, Kjell, Milenkovic, Dusanka, Gustafsson, Claes M, Filipovska, Aleksandra, Larsson, Nils‐Göran
Publicado 2019

MTERF3 Regulates Mitochondrial Ribosome Biogenesis in Invertebrates and Mammals

por 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
Publicado 2013

The one-carbon pool controls mitochondrial energy metabolism via complex I and iron-sulfur clusters

por Schober, Florian A., Moore, David, Atanassov, Ilian, Moedas, Marco F., Clemente, Paula, Végvári, Ákos, Fissi, Najla El, Filograna, Roberta, Bucher, Anna-Lena, Hinze, Yvonne, The, Matthew, Hedman, Erik, Chernogubova, Ekaterina, Begzati, Arjana, Wibom, Rolf, Jain, Mohit, Nilsson, Roland, Käll, Lukas, Wedell, Anna, Freyer, Christoph, Wredenberg, Anna
Publicado 2021