Protocol for the derivation, culturing, and differentiation of human iPS-cell-derived neuroepithelial stem cells to study neural differentiation in vitro

by Javier Calvo-Garrido, Dania Winn, Camilla Maffezzini, Anna Wedell, Christoph Freyer, Anna Falk, Anna Wredenberg
Published 2021-06-01

Ultra-deep sequencing of mouse mitochondrial DNA: mutational patterns and their origins.

by Adam Ameur, James B Stewart, Christoph Freyer, Erik Hagström, Max Ingman, Nils-Göran Larsson, Ulf Gyllensten
Published 2011-03-01

Strong purifying selection in transmission of mammalian mitochondrial DNA.

by James Bruce Stewart, Christoph Freyer, Joanna L Elson, Anna Wredenberg, Zekiye Cansu, Aleksandra Trifunovic, Nils-Göran Larsson
Published 2008-01-01

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

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

A Phenotype-Driven Approach to Generate Mouse Models with Pathogenic mtDNA Mutations Causing Mitochondrial Disease

by Johanna H.K. Kauppila, Holly L. Baines, Ana Bratic, Marie-Lune Simard, Christoph Freyer, Arnaud Mourier, Craig Stamp, Roberta Filograna, Nils-Göran Larsson, Laura C. Greaves, James B. Stewart
Published 2016-09-01

SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation

by Javier Calvo-Garrido, Camilla Maffezzini, Florian A. Schober, Paula Clemente, Elias Uhlin, Malin Kele, Henrik Stranneheim, Nicole Lesko, Helene Bruhn, Per Svenningsson, Anna Falk, Anna Wedell, Christoph Freyer, Anna Wredenberg
Published 2019-04-01

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

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

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

by Montse Olivé, Martin Engvall, Gianina Ravenscroft, Macarena Cabrera-Serrano, Hong Jiao, Carlo Augusto Bortolotti, Marcello Pignataro, Matteo Lambrughi, Haibo Jiang, Alistair R. R. Forrest, Núria Benseny-Cases, Stefan Hofbauer, Christian Obinger, Gianantonio Battistuzzi, Marzia Bellei, Marco Borsari, Giulia Di Rocco, Helena M. Viola, Livia C. Hool, Josep Cladera, Kristina Lagerstedt-Robinson, Fengqing Xiang, Anna Wredenberg, Francesc Miralles, Juan José Baiges, Edoardo Malfatti, Norma B. Romero, Nathalie Streichenberger, Christophe Vial, Kristl G. Claeys, Chiara S. M. Straathof, An Goris, Christoph Freyer, Martin Lammens, Guillaume Bassez, Juha Kere, Paula Clemente, Thomas Sejersen, Bjarne Udd, Noemí Vidal, Isidre Ferrer, Lars Edström, Anna Wedell, Nigel G. Laing
Published 2019-03-01

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

by Henrik Stranneheim, Kristina Lagerstedt-Robinson, Måns Magnusson, Malin Kvarnung, Daniel Nilsson, Nicole Lesko, Martin Engvall, Britt-Marie Anderlid, Henrik Arnell, Carolina Backman Johansson, Michela Barbaro, Erik Björck, Helene Bruhn, Jesper Eisfeldt, Christoph Freyer, Giedre Grigelioniene, Peter Gustavsson, Anna Hammarsjö, Maritta Hellström-Pigg, Erik Iwarsson, Anders Jemt, Mikael Laaksonen, Sara Lind Enoksson, Helena Malmgren, Karin Naess, Magnus Nordenskjöld, Mikael Oscarson, Maria Pettersson, Chiara Rasi, Adam Rosenbaum, Ellika Sahlin, Eliane Sardh, Tommy Stödberg, Bianca Tesi, Emma Tham, Håkan Thonberg, Virpi Töhönen, Ulrika von Döbeln, Daphne Vassiliou, Sofie Vonlanthen, Ann-Charlotte Wikström, Josephine Wincent, Ola Winqvist, Anna Wredenberg, Sofia Ygberg, Rolf H. Zetterström, Per Marits, Maria Johansson Soller, Ann Nordgren, Valtteri Wirta, Anna Lindstrand, Anna Wedell
Published 2021-03-01