Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Roberta Filograna"'
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:
Jingdian Zhang, Camilla Koolmeister, Jinming Han, Roberta Filograna, Leo Hanke, Monika Àdori, Daniel J. Sheward, Sina Teifel, Shreekara Gopalakrishna, Qiuya Shao, Yong Liu, Keying Zhu, Robert A. Harris, Gerald McInerney, Ben Murrell, Mike Aoun, Liselotte Bäckdahl, Rikard Holmdahl, Marcin Pekalski, Anna Wedell, Martin Engvall, Anna Wredenberg, Gunilla B. Karlsson Hedestam, Xaquin Castro Dopico, Joanna Rorbach
Publikováno v:
JCI Insight, Vol 8, Iss 17 (2023)
Pathogenic mutations in mitochondrial (mt) tRNA genes that compromise oxidative phosphorylation (OXPHOS) exhibit heteroplasmy and cause a range of multisyndromic conditions. Although mitochondrial disease patients are known to suffer from abnormal im
Externí odkaz:
https://doaj.org/article/06ca1318ae034d2c89248663f7d9045f
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
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
Externí odkaz:
https://doaj.org/article/d07081d6fc7544c3bb4631b98be0631b
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:
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
Publikováno v:
PLoS Genetics, Vol 15, Iss 7, p e1008240 (2019)
The RNA helicase SUV3 and the polynucleotide phosphorylase PNPase are involved in the degradation of mitochondrial mRNAs but their roles in vivo are not fully understood. Additionally, upstream processes, such as transcript maturation, have been link
Externí odkaz:
https://doaj.org/article/ea7ce131776e4971ad749d7f42cbb85b
Autor:
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
Publikováno v:
Cell Reports, Vol 16, Iss 11, Pp 2980-2990 (2016)
Mutations of mtDNA are an important cause of human disease, but few animal models exist. Because mammalian mitochondria cannot be transfected, the development of mice with pathogenic mtDNA mutations has been challenging, and the main strategy has the
Externí odkaz:
https://doaj.org/article/c9d60e6d715741ada477ce9887a88f10
Autor:
Roberta Filograna, Laura Civiero, Vanni Ferrari, Gaia Codolo, Elisa Greggio, Luigi Bubacco, Mariano Beltramini, Marco Bisaglia
Publikováno v:
PLoS ONE, Vol 10, Iss 8, p e0136769 (2015)
Human cell lines are often used to investigate cellular pathways relevant for physiological or pathological processes or to evaluate cell toxicity or protection induced by different compounds, including potential drugs. In this study, we analyzed and
Externí odkaz:
https://doaj.org/article/ba27bd8d984c41c79d37603fd6bd613d
Autor:
Jelena Misic, Dusanka Milenkovic, Ali Al-Behadili, Xie Xie, Min Jiang, Shan Jiang, Roberta Filograna, Camilla Koolmeister, Stefan J Siira, Louise Jenninger, Aleksandra Filipovska, Anders R Clausen, Leonardo Caporali, Maria Lucia Valentino, Chiara La Morgia, Valerio Carelli, Thomas J Nicholls, Anna Wredenberg, Maria Falkenberg, Nils-Göran Larsson
Publikováno v:
Nucleic Acids Res
The in vivo role for RNase H1 in mammalian mitochondria has been much debated. Loss of RNase H1 is embryonic lethal and to further study its role in mtDNA expression we characterized a conditional knockout of Rnaseh1 in mouse heart. We report that RN
Publikováno v:
Febs Letters
Most of the genetic information has been lost or transferred to the nucleus during the evolution of mitochondria. Nevertheless, mitochondria have retained their own genome that is essential for oxidative phosphorylation (OXPHOS). In mammals, a gene