Works by Rolf Wibom

Results: 34

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

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.654

By:

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

Publication type:

Article

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

Published in:

2017

By:

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

Publication type:

journal article

LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs.

Published in:

EMBO Journal, 2012, v. 31, n. 2, p. 443, doi. 10.1038/emboj.2011.392

By:

Ruzzenente, Benedetta;
Metodiev, Metodi D;
Wredenberg, Anna;
Bratic, Ana;
Park, Chan Bae;
Cámara, Yolanda;
Milenkovic, Dusanka;
Zickermann, Volker;
Wibom, Rolf;
Hultenby, Kjell;
Erdjument-Bromage, Hediye;
Tempst, Paul;
Brandt, Ulrich;
Stewart, James B;
Gustafsson, Claes M;
Larsson, Nils-Göran

Publication type:

Article

SOD2 overexpression: enhanced mitochondrial tolerance but absence of effect on UCP activity.

Published in:

EMBO Journal, 2005, v. 24, n. 23, p. 4061, doi. 10.1038/sj.emboj.7600866

By:

Silva, José P;
Shabalina, Irina G;
Dufour, Eric;
Petrovic, Natasa;
Backlund, Emma C;
Hultenby, Kjell;
Wibom, Rolf;
Nedergaard, Jan;
Cannon, Barbara;
Larsson, Nils-Göran

Publication type:

Article

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

Published in:

PLoS Genetics, 2019, v. 15, n. 7, p. 1, doi. 10.1371/journal.pgen.1008240

By:

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

Publication type:

Article

Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency.

Published in:

Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/1611838

By:

Bruhn, Helene;
Naess, Karin;
Ygberg, Sofia;
Peña-Pérez, Lucía;
Lesko, Nicole;
Wibom, Rolf;
Freyer, Christoph;
Stranneheim, Henrik;
Wedell, Anna;
Wredenberg, Anna

Publication type:

Article

Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7.

Published in:

Human Mutation, 2021, v. 42, n. 4, p. 378, doi. 10.1002/humu.24173

By:

Correia, Sandrina P.;
Moedas, Marco F.;
Naess, Karin;
Bruhn, Helene;
Maffezzini, Camilla;
Calvo‐Garrido, Javier;
Lesko, Nicole;
Wibom, Rolf;
Schober, Florian A.;
Jemt, Anders;
Stranneheim, Henrik;
Freyer, Christoph;
Wedell, Anna;
Wredenberg, Anna

Publication type:

Article

Secondary metabolic effects in complex I deficiency.

Published in:

Annals of Neurology, 2005, v. 58, n. 4, p. 544

By:

Nayla Esteitie;
Reetta Hinttala;
Rolf Wibom;
Helene Nilsson;
Nicole Hance;
Karin Naess;
Kristina Teär‐Fahnehjelm;
Ulrika Von Döbeln;
Kari Majamaa;
Nils‐Göran Larsson

Publication type:

Article

CLPP coordinates mitoribosomal assembly through the regulation of ERAL1 levels.

Published in:

EMBO Journal, 2016, v. 35, n. 23, p. 2566, doi. 10.15252/embj.201694253

By:

Szczepanowska, Karolina;
Maiti, Priyanka;
Kukat, Alexandra;
Hofsetz, Eduard;
Nolte, Hendrik;
Senft, Katharina;
Becker, Christina;
Ruzzenente, Benedetta;
Hornig‐Do, Hue‐Tran;
Wibom, Rolf;
Wiesner, Rudolf J;
Krüger, Marcus;
Trifunovic, Aleksandra

Publication type:

Article

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

Published in:

BMC Genomics, 2014, v. 15, n. 1, p. 921, doi. 10.1186/1471-2164-15-1090

By:

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

Publication type:

Article

TEFM regulates both transcription elongation and RNA processing in mitochondria.

Published in:

EMBO Reports, 2019, v. 20, n. 6, p. 1, doi. 10.15252/embr.201948101

By:

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

Publication type:

Article

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

Published in:

Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2021.652590

By:

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

Publication type:

Article

Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.

Published in:

Human Mutation, 2009, v. 30, n. 7, p. E728, doi. 10.1002/humu.21037

By:

Hoefs, Saskia J.G.;
Dieteren, Cindy E.J.;
Rodenburg, Richard J.;
Naess, Karin;
Bruhn, Helene;
Wibom, Rolf;
Wagena, Esther;
Willems, Peter H.;
Smeitink, Jan A.M.;
Nijtmans, Leo G.;
van den Heuvel, Lambert P.

Publication type:

Article

SUV3 helicase is required for correct processing of mitochondrial transcripts.

Published in:

Nucleic Acids Research, 2015, v. 43, n. 15, p. 7398, doi. 10.1093/nar/gkv692

By:

Clemente, Paula;
Pajak, Aleksandra;
Laine, Isabelle;
Wibom, Rolf;
Wedell, Anna;
Freyer, Christoph;
Wredenberg, Anna

Publication type:

Article

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

Published in:

Nucleic Acids Research, 2010, v. 38, n. 19, p. 6577, doi. 10.1093/nar/gkq527

By:

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

Publication type:

Article

Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 8, p. 897, doi. 10.1038/ejhg.2012.44

By:

Tuppen, Helen AL;
Naess, Karin;
Kennaway, Nancy G;
Al-Dosary, Mazhor;
Lesko, Nicole;
Yarham, John W;
Bruhn, Helene;
Wibom, Rolf;
Nennesmo, Inger;
Weleber, Richard G;
Blakely, Emma L;
Taylor, Robert W;
McFarland, Robert

Publication type:

Article

Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 8, p. 910, doi. 10.1038/ejhg.2012.123

By:

Tuppen, Helen AL;
Naess, Karin;
Kennaway, Nancy G;
Al-Dosary, Mazhor;
Lesko, Nicole;
Yarham, John W;
Bruhn, Helene;
Wibom, Rolf;
Nennesmo, Inger;
Weleber, Richard G;
Blakely, Emma L;
Taylor, Robert W;
McFarland, Robert

Publication type:

Article

Premature ageing in mice expressing defective mitochondrial DNA polymerase.

Published in:

Nature, 2004, v. 429, n. 6990, p. 417, doi. 10.1038/nature02517

By:

Trifunovic, Aleksandra;
Wredenberg, Anna;
Falkenberg, Maria;
Spelbrink, Johannes N.;
Rovio, Anja T.;
Bruder, Carl E.;
Bohlooly-Y, Mohammad;
Gidlöf, Sebastian;
Oldfors, Anders;
Wibom, Rolf;
Törnell, Jan;
Jacobs, Howard T.;
Larsson, Nils-Göran

Publication type:

Article

DARS2 protects against neuroinflammation and apoptotic neuronal loss, but is dispensable for myelin producing cells.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 21, p. 4181, doi. 10.1093/hmg/ddx307

By:

Aradjanski, Marijana;
Dogan, Sukru Anil;
Lotter, Stephan;
Shuaiyu Wang;
Hermans, Steffen;
Wibom, Rolf;
Rugarli, Elena;
Trifunovic, Aleksandra

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2017, v. 26, n. 13, p. 2515, doi. 10.1093/hmg/ddx146

By:

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

Publication type:

Article

Cyclophilin D, a target for counteracting skeletal muscle dysfunction in mitochondrial myopathy.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 23, p. 6580, doi. 10.1093/hmg/ddv361

By:

Gineste, Charlotte;
Hernandez, Andres;
Ivarsson, Niklas;
Cheng, Arthur J.;
Naess, Karin;
Wibom, Rolf;
Lesko, Nicole;
Bruhn, Helene;
Wedell, Anna;
Freyer, Christoph;
Shi-Jin Zhang;
Carlström, Mattias;
Lanner, Johanna T.;
Andersson, Daniel C.;
Bruton, Joseph D.;
Wredenberg, Anna;
Westerblad, Håkan

Publication type:

Article

Altered dopamine metabolism and increased vulnerability to MPTP in mice with partial deficiency of mitochondrial complex I in dopamine neurons.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 5, p. 1078, doi. 10.1093/hmg/ddr537

By:

Sterky, Fredrik H.;
Hoffman, Alexander F.;
Milenkovic, Dusanka;
Bao, Betty;
Paganelli, Arianna;
Edgar, Daniel;
Wibom, Rolf;
Lupica, Carl R.;
Olson, Lars;
Larsson, Nils-Göran

Publication type:

Article

Differences in acute metabolism of fructose between hemodialysis patients and healthy subjects.

Published in:

Scandinavian Journal of Clinical & Laboratory Investigation, 2013, v. 73, n. 2, p. 154, doi. 10.3109/00365513.2012.758386

By:

Anderstam, Björn;
Bragfors-Helin, Ann-Christin;
Axelsson, Jonas;
Qureshi, Abdul R.;
Wibom, Rolf;
Lindholm, Bengt;
Stenvinkel, Peter

Publication type:

Article

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

Published in:

PLoS Genetics, 2016, v. 12, n. 5, p. 1, doi. 10.1371/journal.pgen.1006028

By:

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

Publication type:

Article

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

Published in:

PLoS Genetics, 2014, v. 10, n. 6, p. 1, doi. 10.1371/journal.pgen.1004385

By:

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

Publication type:

Article

MTERF3 Regulates Mitochondrial Ribosome Biogenesis in Invertebrates and Mammals.

Published in:

PLoS Genetics, 2013, v. 9, n. 1, p. 1, doi. 10.1371/journal.pgen.1003178

By:

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;
Loguercio Polosa, Paola;
Habermann, Bianca;
Partridge, Linda;
Chan Bae Park;
Larsson, Nils-Göran

Publication type:

Article

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

Published in:

PLoS Genetics, 2011, v. 7, n. 10, p. 1, doi. 10.1371/journal.pgen.1002324

By:

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

Publication type:

Article

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

Published in:

Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-022-35684-6

By:

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

Publication type:

Article

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

Published in:

Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-33368-9

By:

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

Publication type:

Article

Partial tetrasomy 14 associated with multiple malformations.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1284, doi. 10.1002/ajmg.a.35887

By:

Winberg, Johanna;
Lagerstedt Robinson, Kristina;
Naess, Karin;
Lesko, Nicole;
Wibom, Rolf;
Liedén, Agne;
Anderlid, Britt‐Marie;
Graff, Caroline;
Nordenskjöld, Agneta;
Nordgren, Ann;
Gustavsson, Peter

Publication type:

Article

Marked Reutilization of Free Fatty Acids during Activated Lipolysis in Human Skeletal Muscle.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 2, p. 1189, doi. 10.1210/jc.2004-1079

By:

Enoksson, Staffan;
Hagström-Toft, Eva;
Nordahl, Joakim;
Hultenby, Kjell;
Pettersson, Nils;
Isaksson, Bengt;
Permert, Johan;
Wibom, Rolf;
Holm, Cecilia;
Bolinder, Jan;
Arner, Peter

Publication type:

Article

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

Published in:

NPJ Parkinson's Disease, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41531-024-00707-0

By:

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

Publication type:

Article

Effects of Palmitate on Ca2+ Handling in Adult Control and ob/ob Cardiomyocytes.

Published in:

Diabetes, 2007, v. 56, n. 4, p. 1136, doi. 10.2337/db06-0739

By:

Fauconnier, Jérémy;
Andersson, Daniel C.;
Zhang, Shi-Jin;
Lanner, Johanna T.;
Wibom, Rolf;
Katz, Abram;
Bruton, Joseph D.;
Westerblad, Håkan

Publication type:

Article

Sensory Ataxic Neuropathy in Golden Retriever Dogs Is Caused by a Deletion in the Mitochondrial tRNATyrGene.

Published in:

PLoS Genetics, 2009, v. 5, n. 5, p. 1, doi. 10.1371/journal.pgen.1000499

By:

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

Publication type:

Article

Works by Rolf Wibom

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

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

LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs.

SOD2 overexpression: enhanced mitochondrial tolerance but absence of effect on UCP activity.

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

Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency.

Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7.

Secondary metabolic effects in complex I deficiency.

CLPP coordinates mitoribosomal assembly through the regulation of ERAL1 levels.

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

TEFM regulates both transcription elongation and RNA processing in mitochondria.

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

Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.

SUV3 helicase is required for correct processing of mitochondrial transcripts.

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

Mutations in the mitochondrial tRNA<sup>Ser(AGY)</sup> gene are associated with deafness, retinal degeneration, myopathy and epilepsy.

Mutations in the mitochondrial tRNA<sup>Ser(AGY)</sup> gene are associated with deafness, retinal degeneration, myopathy and epilepsy.

Premature ageing in mice expressing defective mitochondrial DNA polymerase.

DARS2 protects against neuroinflammation and apoptotic neuronal loss, but is dispensable for myelin producing cells.

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

Cyclophilin D, a target for counteracting skeletal muscle dysfunction in mitochondrial myopathy.

Altered dopamine metabolism and increased vulnerability to MPTP in mice with partial deficiency of mitochondrial complex I in dopamine neurons.

Differences in acute metabolism of fructose between hemodialysis patients and healthy subjects.

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

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

MTERF3 Regulates Mitochondrial Ribosome Biogenesis in Invertebrates and Mammals.

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

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

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

Partial tetrasomy 14 associated with multiple malformations.

Marked Reutilization of Free Fatty Acids during Activated Lipolysis in Human Skeletal Muscle.

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

Effects of Palmitate on Ca<sup>2+</sup> Handling in Adult Control and ob/ob Cardiomyocytes.

Sensory Ataxic Neuropathy in Golden Retriever Dogs Is Caused by a Deletion in the Mitochondrial tRNA<sup>Tyr</sup>Gene.