Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

Autor: Alston, CL, Heidler, J, Dibley, MG, Kremer, LS, Taylor, LS, Fratter, C, French, CE, Glasgow, RIC, Feichtinger, RG, Delon, I, Pagnamenta, AT, Dolling, H, Lemonde, H, Aiton, N, Bjørnstad, A, Henneke, L, Gärtner, J, Thiele, H, Tauchmannova, K, Quaghebeur, G, Houstek, J, Sperl, W, Raymond, FL, Prokisch, H, Mayr, JA, McFarland, R, Poulton, J, Ryan, MT, Wittig, I, Henneke, M, Taylor, RW

Publikováno v: Am. J. Hum. Genet. 103, 592-601 (2018)
American Journal of Human Genetics

Isolated complex I deficiency is a common biochemical phenotype observed in pediatric mitochondrial disease and often arises as a consequence of pathogenic variants affecting one of the similar to 65 genes encoding the complex I structural subunits o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e7d80d600246ac70ef8c2bf3a169d48
https://www.repository.cam.ac.uk/handle/1810/293025

Inhibition of mammalian mtDNA transcription acts paradoxically to reverse diet-induced hepatosteatosis and obesity.

Autor: Jiang S; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden., Yuan T; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden., Rosenberger FA; Department of Proteomics and Signal Transduction, Max-Planck Institute of Biochemistry, Martinsried, Germany., Mourier A; University of Bordeaux, CNRS, Institut de Biochimie et Génétique Cellulaires (IGBC) UMR, Bordeaux, France., Dragano NRV; Institute of Experimental Genetics - German Mouse Clinic, Helmholtz Zentrum, Munich, Germany.; German Center for Diabetes Research (DZD), Oberschleißheim-Neuherberg, Neuherberg, Germany., Kremer LS; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden., Rubalcava-Gracia D; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden., Hansen FM; Department of Proteomics and Signal Transduction, Max-Planck Institute of Biochemistry, Martinsried, Germany., Borg M; Department of Physiology and Pharmacology, Section for Integrative Physiology, Karolinska Institutet, Stockholm, Sweden., Mennuni M; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden., Filograna R; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden., Alsina D; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden., Misic J; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden., Koolmeister C; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden., Papadea P; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden., de Angelis MH; Institute of Experimental Genetics - German Mouse Clinic, Helmholtz Zentrum, Munich, Germany.; German Center for Diabetes Research (DZD), Oberschleißheim-Neuherberg, Neuherberg, Germany.; Chair of Experimental Genetics, TUM School of Life Sciences, Technische Universität München, Freising, Germany., Ren L; Department of Cell and Molecular Biology, Karolinska Institutet, Stockholm, Sweden., Andersson O; Department of Cell and Molecular Biology, Karolinska Institutet, Stockholm, Sweden., Unger A; Lead Discovery Center, Dortmund, Germany., Bergbrede T; Lead Discovery Center, Dortmund, Germany., Di Lucrezia R; Lead Discovery Center, Dortmund, Germany., Wibom R; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden., Zierath JR; Department of Physiology and Pharmacology, Section for Integrative Physiology, Karolinska Institutet, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Section for Integrative Physiology, Karolinska Institutet, Stockholm, Sweden., Krook A; Department of Physiology and Pharmacology, Section for Integrative Physiology, Karolinska Institutet, Stockholm, Sweden., Giavalisco P; Metabolomics Core Facility, Max Planck Institute for Biology of Ageing, Cologne, Germany., Mann M; Department of Proteomics and Signal Transduction, Max-Planck Institute of Biochemistry, Martinsried, Germany., Larsson NG; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden. nils-goran.larsson@ki.se.

Publikováno v: Nature metabolism [Nat Metab] 2024 Jun; Vol. 6 (6), pp. 1024-1035. Date of Electronic Publication: 2024 Apr 30.

Identification of TMEM126A as OXA1L-interacting protein reveals cotranslational quality control in mitochondria.

Autor: Poerschke S; Institute for Cellular Biochemistry, University of Goettingen, 37073 Goettingen, Germany., Oeljeklaus S; Faculty of Chemistry and Pharmacy, Biochemistry II, Theodor Boveri-Institute, University of Würzburg, 97074 Wuerzburg, Germany., Cruz-Zaragoza LD; Institute for Cellular Biochemistry, University of Goettingen, 37073 Goettingen, Germany., Schenzielorz A; Institute for Biology II, Faculty for Biology, Functional Proteomics, University of Freiburg, 79104 Freiburg, Germany., Dahal D; Institute for Cellular Biochemistry, University of Goettingen, 37073 Goettingen, Germany., Hillen HS; Institute for Cellular Biochemistry, University of Goettingen, 37073 Goettingen, Germany; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Goettingen, Goettingen, Germany; Research Group Structure and Function of Molecular Machines, Max Planck Institute for Multidisciplinary Sciences, 37077 Goettingen, Germany., Das H; Faculty of Chemistry and Pharmacy, Biochemistry II, Theodor Boveri-Institute, University of Würzburg, 97074 Wuerzburg, Germany., Kremer LS; Institute for Cellular Biochemistry, University of Goettingen, 37073 Goettingen, Germany., Valpadashi A; Institute for Cellular Biochemistry, University of Goettingen, 37073 Goettingen, Germany., Breuer M; Institute for Cellular Biochemistry, University of Goettingen, 37073 Goettingen, Germany., Sattmann J; Institute for Cellular Biochemistry, University of Goettingen, 37073 Goettingen, Germany., Richter-Dennerlein R; Institute for Cellular Biochemistry, University of Goettingen, 37073 Goettingen, Germany; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Goettingen, Goettingen, Germany; Goettingen Center for Molecular Biosciences, University of Goettingen, 37077 Goettingen, Germany., Warscheid B; Faculty of Chemistry and Pharmacy, Biochemistry II, Theodor Boveri-Institute, University of Würzburg, 97074 Wuerzburg, Germany; Cluster of Excellence CIBSS Centre for Integrative Biological Signalling Studies, University of Freiburg, 79104 Freiburg, Germany., Dennerlein S; Institute for Cellular Biochemistry, University of Goettingen, 37073 Goettingen, Germany. Electronic address: sven.dennerlein@med.uni-goettingen.de., Rehling P; Institute for Cellular Biochemistry, University of Goettingen, 37073 Goettingen, Germany; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Goettingen, Goettingen, Germany; Goettingen Center for Molecular Biosciences, University of Goettingen, 37077 Goettingen, Germany; Fraunhofer Institute for Translational Medicine and Pharmacology ITMP, Translational Neuroinflammation and Automated Microscopy, Goettingen, Germany; Max Planck Institute for Multidisciplinary Sciences, 37077 Goettingen, Germany. Electronic address: peter.rehling@medizin.uni-goettingen.de.

Publikováno v: Molecular cell [Mol Cell] 2024 Jan 18; Vol. 84 (2), pp. 345-358.e5. Date of Electronic Publication: 2024 Jan 09.

A role for BCL2L13 and autophagy in germline purifying selection of mtDNA.

Autor: Kremer LS; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden., Bozhilova LV; MRC Mitochondrial Biology Unit, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom., Rubalcava-Gracia D; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden., Filograna R; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden., Upadhyay M; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden., Koolmeister C; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden., Chinnery PF; MRC Mitochondrial Biology Unit, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom.; Department of Clinical Neuroscience, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom., Larsson NG; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.

Publikováno v: PLoS genetics [PLoS Genet] 2023 Jan 06; Vol. 19 (1), pp. e1010573. Date of Electronic Publication: 2023 Jan 06 (Print Publication: 2023).

Detection of aberrant splicing events in RNA-seq data using FRASER.

Autor: Mertes C; Department of Informatics, Technical University of Munich, Garching, Germany., Scheller IF; Department of Informatics, Technical University of Munich, Garching, Germany.; Institute of Computational Biology, Helmholtz Zentrum München, Neuherberg, Germany., Yépez VA; Department of Informatics, Technical University of Munich, Garching, Germany.; Quantitative Biosciences Munich, Gene Center, Ludwig-Maximilians Universität München, Munich, Germany., Çelik MH; Department of Informatics, Technical University of Munich, Garching, Germany., Liang Y; Department of Informatics, Technical University of Munich, Garching, Germany., Kremer LS; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany., Gusic M; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany., Prokisch H; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany., Gagneur J; Department of Informatics, Technical University of Munich, Garching, Germany. gagneur@in.tum.de.; Institute of Computational Biology, Helmholtz Zentrum München, Neuherberg, Germany. gagneur@in.tum.de.; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany. gagneur@in.tum.de.

Publikováno v: Nature communications [Nat Commun] 2021 Jan 22; Vol. 12 (1), pp. 529. Date of Electronic Publication: 2021 Jan 22.