Zobrazeno 1 - 10
of 236
pro vyhledávání: '"Nils-Göran Larsson"'
Autor:
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
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-14 (2024)
Abstract Loss-of-function variants in the PRKN gene encoding the ubiquitin E3 ligase PARKIN cause autosomal recessive early-onset Parkinson’s disease (PD). Extensive in vitro and in vivo studies have reported that PARKIN is involved in multiple pat
Externí odkaz:
https://doaj.org/article/5261e43905b84e29a138f193cac7150a
Autor:
Laura S Kremer, Lyuba V Bozhilova, Diana Rubalcava-Gracia, Roberta Filograna, Mamta Upadhyay, Camilla Koolmeister, Patrick F Chinnery, Nils-Göran Larsson
Publikováno v:
PLoS Genetics, Vol 19, Iss 1, p e1010573 (2023)
Mammalian mitochondrial DNA (mtDNA) is inherited uniparentally through the female germline without undergoing recombination. This poses a major problem as deleterious mtDNA mutations must be eliminated to avoid a mutational meltdown over generations.
Externí odkaz:
https://doaj.org/article/0fce94f1f4ba413a93b5b45de327a754
Autor:
Dusanka Milenkovic, Adrián Sanz-Moreno, Julia Calzada-Wack, Birgit Rathkolb, Oana Veronica Amarie, Raffaele Gerlini, Antonio Aguilar-Pimentel, Jelena Misic, Marie-Lune Simard, Eckhard Wolf, Helmut Fuchs, Valerie Gailus-Durner, Martin Hrabě de Angelis, Nils-Göran Larsson
Publikováno v:
PLoS Genetics, Vol 18, Iss 5, p e1010190 (2022)
Mitochondrial DNA (mtDNA) maintenance disorders are caused by mutations in ubiquitously expressed nuclear genes and lead to syndromes with variable disease severity and tissue-specific phenotypes. Loss of function mutations in the gene encoding the m
Externí odkaz:
https://doaj.org/article/5717622e5f364704b033f7ed9effe976
Autor:
Roberta Filograna, Seungmin Lee, Katarína Tiklová, Mara Mennuni, Viktor Jonsson, Markus Ringnér, Linda Gillberg, Elena Sopova, Oleg Shupliakov, Camilla Koolmeister, Lars Olson, Thomas Perlmann, Nils-Göran Larsson
Publikováno v:
PLoS Genetics, Vol 17, Iss 9, p e1009822 (2021)
Dopamine (DA) neurons of the midbrain are at risk to become affected by mitochondrial damage over time and mitochondrial defects have been frequently reported in Parkinson's disease (PD) patients. However, the causal contribution of adult-onset mitoc
Externí odkaz:
https://doaj.org/article/61f2fcf7bb484163bdda169112e41b0e
Autor:
Swaraj Basu, Xie Xie, Jay P Uhler, Carola Hedberg-Oldfors, Dusanka Milenkovic, Olivier R Baris, Sammy Kimoloi, Stanka Matic, James B Stewart, Nils-Göran Larsson, Rudolf J Wiesner, Anders Oldfors, Claes M Gustafsson, Maria Falkenberg, Erik Larsson
Publikováno v:
PLoS Genetics, Vol 16, Iss 12, p e1009242 (2020)
Deletions and duplications in mitochondrial DNA (mtDNA) cause mitochondrial disease and accumulate in conditions such as cancer and age-related disorders, but validated high-throughput methodology that can readily detect and discriminate between thes
Externí odkaz:
https://doaj.org/article/b37608b27ed04fa5a6f640ac89a4920d
Autor:
David Alsina, Oleksandr Lytovchenko, Aleksandra Schab, Ilian Atanassov, Florian A Schober, Min Jiang, Camilla Koolmeister, Anna Wedell, Robert W Taylor, Anna Wredenberg, Nils‐Göran Larsson
Publikováno v:
EMBO Molecular Medicine, Vol 12, Iss 7, Pp n/a-n/a (2020)
Abstract Pathogenic variants in FBXL4 cause a severe encephalopathic syndrome associated with mtDNA depletion and deficient oxidative phosphorylation. To gain further insight into the enigmatic pathophysiology caused by FBXL4 deficiency, we generated
Externí odkaz:
https://doaj.org/article/a1607124f7c84b129339028002683006
Autor:
Jakob D. Busch, Miriam Cipullo, Ilian Atanassov, Ana Bratic, Eduardo Silva Ramos, Thomas Schöndorf, Xinping Li, Sarah F. Pearce, Dusanka Milenkovic, Joanna Rorbach, Nils-Göran Larsson
Publikováno v:
Cell Reports, Vol 29, Iss 6, Pp 1728-1738.e9 (2019)
Summary: Mitochondria harbor specialized ribosomes (mitoribosomes) necessary for the synthesis of key membrane proteins of the oxidative phosphorylation (OXPHOS) machinery located in the mitochondrial inner membrane. To date, no animal model exists t
Externí odkaz:
https://doaj.org/article/47fa904e13314d7a923559092c3f94f1
Autor:
Kara L. Perks, Giulia Rossetti, Irina Kuznetsova, Laetitia A. Hughes, Judith A. Ermer, Nicola Ferreira, Jakob D. Busch, Danielle L. Rudler, Henrik Spahr, Thomas Schöndorf, Ann-Marie J. Shearwood, Helena M. Viola, Stefan J. Siira, Livia C. Hool, Dusanka Milenkovic, Nils-Göran Larsson, Oliver Rackham, Aleksandra Filipovska
Publikováno v:
Cell Reports, Vol 23, Iss 1, Pp 127-142 (2018)
Summary: The regulation of mitochondrial RNA life cycles and their roles in ribosome biogenesis and energy metabolism are not fully understood. We used CRISPR/Cas9 to generate heart- and skeletal-muscle-specific knockout mice of the pentatricopeptide
Externí odkaz:
https://doaj.org/article/8dbb75c8694646508ff8f39a311f3b3c
Autor:
Stanka Matic, Min Jiang, Thomas J. Nicholls, Jay P. Uhler, Caren Dirksen-Schwanenland, Paola Loguercio Polosa, Marie-Lune Simard, Xinping Li, Ilian Atanassov, Oliver Rackham, Aleksandra Filipovska, James B. Stewart, Maria Falkenberg, Nils-Göran Larsson, Dusanka Milenkovic
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-13 (2018)
It has been debated whether premature ageing in mitochondrial DNA mutator mice is driven by point mutations or deletions of mtDNA. Matic et al generate Mgme1 knockout mice and show here that these mice have tissue-specific replication stalling and ac
Externí odkaz:
https://doaj.org/article/e4875b41d2804c3a99656ff7ae1c7aca
Autor:
Stefan J. Siira, Henrik Spåhr, Anne-Marie J. Shearwood, Benedetta Ruzzenente, Nils-Göran Larsson, Oliver Rackham, Aleksandra Filipovska
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-11 (2017)
The mitochondrial genome, being compressed to 16 kb, is an attractive model system to investigate how RNA-binding proteins chaperone mRNA lifecycles. Here the authors use RNase footprinting and PAR-CLIP to show that the LRPPRC–SLIRP complex stabili
Externí odkaz:
https://doaj.org/article/8c6adab0547346b6a630adf12ab05ecd