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

by Martin Engvall, Martin Engvall, Aki Kawasaki, Valerio Carelli, Valerio Carelli, Rolf Wibom, Rolf Wibom, Helene Bruhn, Helene Bruhn, Nicole Lesko, Nicole Lesko, Florian A. Schober, Anna Wredenberg, Anna Wredenberg, Anna Wedell, Anna Wedell, Frank Träisk, Frank Träisk
Published 2021-03-01

DIFFERENT ACUTE METABOLISM OF FRUCTOSE IN DIALYSIS PATIENTS COMPARED TO HEALTHY SUBJECTS

by Björn Anderstam, Ann-Christin Bragfors-Helin, Jonas Axelsson, Abdul Rashid Qureshi, Rolf Wibom, Bengt Lindholm, Peter Stenvinkel
Published 2012-06-01

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

by Ana Bratic, Paula Clemente, Javier Calvo-Garrido, Camilla Maffezzini, Andrea Felser, Rolf Wibom, Anna Wedell, Christoph Freyer, Anna Wredenberg
Published 2016-05-01

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

by Annika Krüger, Cristina Remes, Dmitrii Igorevich Shiriaev, Yong Liu, Henrik Spåhr, Rolf Wibom, Ilian Atanassov, Minh Duc Nguyen, Barry S. Cooperman, Joanna Rorbach
Published 2023-01-01

The bicoid stability factor controls polyadenylation and expression of specific mitochondrial mRNAs in Drosophila melanogaster.

by Ana Bratic, Anna Wredenberg, Sebastian Grönke, James B Stewart, Arnaud Mourier, Benedetta Ruzzenente, Christian Kukat, Rolf Wibom, Bianca Habermann, Linda Partridge, Nils-Göran Larsson
Published 2011-10-01

Sensory ataxic neuropathy in golden retriever dogs is caused by a deletion in the mitochondrial tRNATyr gene.

by Izabella Baranowska, Karin Hultin Jäderlund, Inger Nennesmo, Erik Holmqvist, Nadja Heidrich, Nils-Göran Larsson, Göran Andersson, E Gerhart H Wagner, Ake Hedhammar, Rolf Wibom, Leif Andersson
Published 2009-05-01

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

by Camilla Maffezzini, Isabelle Laine, Cristina Dallabona, Paula Clemente, Javier Calvo‐Garrido, Rolf Wibom, Karin Naess, Michela Barbaro, Anna Falk, Claudia Donnini, Christoph Freyer, Anna Wredenberg, Anna Wedell
Published 2019-06-01

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

by Aleksandra Pajak, Isabelle Laine, Paula Clemente, Najla El-Fissi, Florian A Schober, Camilla Maffezzini, Javier Calvo-Garrido, Rolf Wibom, Roberta Filograna, Ashish Dhir, Anna Wedell, Christoph Freyer, Anna Wredenberg
Published 2019-07-01

Loss of UCP2 attenuates mitochondrial dysfunction without altering ROS production and uncoupling activity.

by Alexandra Kukat, Sukru Anil Dogan, Daniel Edgar, Arnaud Mourier, Christoph Jacoby, Priyanka Maiti, Jan Mauer, Christina Becker, Katharina Senft, Rolf Wibom, Alexei P Kudin, Kjell Hultenby, Ulrich Flögel, Stephan Rosenkranz, Daniel Ricquier, Wolfram S Kunz, Aleksandra Trifunovic
Published 2014-06-01

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

by Paula Clemente, Javier Calvo-Garrido, Sarah F. Pearce, Florian A. Schober, Megumi Shigematsu, Stefan J. Siira, Isabelle Laine, Henrik Spåhr, Christian Steinmetzger, Katja Petzold, Yohei Kirino, Rolf Wibom, Oliver Rackham, Aleksandra Filipovska, Joanna Rorbach, Christoph Freyer, Anna Wredenberg
Published 2022-09-01

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

by Saara Tegelberg, Nikica Tomašić, Jukka Kallijärvi, Janne Purhonen, Eskil Elmér, Eva Lindberg, David Gisselsson Nord, Maria Soller, Nicole Lesko, Anna Wedell, Helene Bruhn, Christoph Freyer, Henrik Stranneheim, Rolf Wibom, Inger Nennesmo, Anna Wredenberg, Erik A. Eklund, Vineta Fellman
Published 2017-04-01

PARKIN is not required to sustain OXPHOS function in adult mammalian tissues

by Roberta Filograna, Jule Gerlach, Hae-Na Choi, Giovanni Rigoni, Michela Barbaro, Mikael Oscarson, Seungmin Lee, Katarina Tiklova, Markus Ringnér, Camilla Koolmeister, Rolf Wibom, Sara Riggare, Inger Nennesmo, Thomas Perlmann, Anna Wredenberg, Anna Wedell, Elisa Motori, Per Svenningsson, Nils-Göran Larsson
Published 2024-04-01

MTERF3 regulates mitochondrial ribosome biogenesis in invertebrates and mammals.

by Anna Wredenberg, Marie Lagouge, Ana Bratic, Metodi D Metodiev, Henrik Spåhr, Arnaud Mourier, Christoph Freyer, Benedetta Ruzzenente, Luke Tain, Sebastian Grönke, Francesca Baggio, Christian Kukat, Elisabeth Kremmer, Rolf Wibom, Paola Loguercio Polosa, Bianca Habermann, Linda Partridge, Chan Bae Park, Nils-Göran Larsson
Published 2013-01-01