Zobrazeno 1 - 10
of 12
pro vyhledávání: '"metabolism [Mitochondrial Proteins]"'
Autor:
Pascale Baden, Maria Jose Perez, Hariam Raji, Federico Bertoli, Stefanie Kalb, María Illescas, Fokion Spanos, Claudio Giuliano, Alessandra Maria Calogero, Marvin Oldrati, Hannah Hebestreit, Graziella Cappelletti, Kathrin Brockmann, Thomas Gasser, Anthony H. V. Schapira, Cristina Ugalde, Michela Deleidi
Publikováno v:
Nature Communications 14(1), 1930 (2023). doi:10.1038/s41467-023-37454-4
Mutations in GBA1, the gene encoding the lysosomal enzyme β-glucocerebrosidase (GCase), which cause Gaucher’s disease, are the most frequent genetic risk factor for Parkinson’s disease (PD). Here, we employ global proteomic and single-cell genom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27055f5aa48d03d5dd4db093bb00cd70
Autor:
Milana Fraiberg, Boris Macek, Zvulun Elazar, Philipp J. Kahle, Anna Lechado Terradas, Katharina Zittlau
Publikováno v:
The Journal of Biological Chemistry
The journal of biological chemistry 297(5), 101339 (2021). doi:10.1016/j.jbc.2021.101339
The journal of biological chemistry 297(5), 101339 (2021). doi:10.1016/j.jbc.2021.101339
Mitochondria are important organelles in eukaryotes. Turnover and quality control of mitochondria are regulated at the transcriptional and posttranslational level by several cellular mechanisms. Removal of defective mitochondrial proteins is mediated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fbec8d603702bfc18179f4f97b4c81b
http://europepmc.org/articles/PMC8591368
http://europepmc.org/articles/PMC8591368
Autor:
Emmanuelle C Genin, Sylvie Bannwarth, Baptiste Ropert, Françoise Lespinasse, Alessandra Mauri-Crouzet, Gaelle Augé, Konstantina Fragaki, Charlotte Cochaud, Erminia Donnarumma, Sandra Lacas-Gervais, Timothy Wai, Véronique Paquis-Flucklinger
Publikováno v:
Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2022, 145 (10), pp.3415-3430. ⟨10.1093/brain/awac197⟩
Brain-A Journal of Neurology, 2022, 145 (10), pp.3415-3430. ⟨10.1093/brain/awac197⟩
CHCHD10 is an amyotrophic lateral sclerosis/frontotemporal dementia gene that encodes a mitochondrial protein whose precise function is unclear. Here we show that Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing protein 10 interacts with the Sto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43e4acee00dfd65b95c24c9f606e3ce2
https://pubmed.ncbi.nlm.nih.gov/35656794
https://pubmed.ncbi.nlm.nih.gov/35656794
Autor:
Antonio Barrientos, Kristen L. Sund, Julia E. Dallman, Adriana P. Rebelo, Stephan Züchner, Zubair M. Ahmed, Xinjian Wang, Claudia Zanna, Andrea H. Németh, Leonardo Caporali, Carlos E. Prada, Neville Patel, Ion J. Campeanu, Feifei Tao, Susan M. Downes, Laura Krueger, Alessandra Maresca, Cynthia A. Prows, Anthony Antonellis, Saskia Groenewald, Lisa Abreu, Fiorella Speziani, Alleene V. Strickland, Yaping Yang, Michael A. Gonzalez, Taosheng Huang, Elizabeth K. Schorry, Valerio Carelli, Chiara La Morgia, Rebecca Schüle, Flavia Fontanesi, Laurie B. Griffin, Alexander J. Abrams, Robert B. Hufnagel, Jeffery Prince, Rocco Liguori, Raffaele Lodi, Omar A. Abdul-Rahman, Holly H. Zimmerman, Yanyan Peng
Publikováno v:
Europe PubMed Central
Nature genetics 47(8), 926-932 (2015). doi:10.1038/ng.3354
Nature genetics
Nature genetics 47(8), 926-932 (2015). doi:10.1038/ng.3354
Nature genetics
Dominant optic atrophy (DOA) and axonal peripheral neuropathy (Charcot-Marie-Tooth type 2, or CMT2) are hereditary neurodegenerative disorders most commonly caused by mutations in the canonical mitochondrial fusion genes OPA1 and MFN2, respectively.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c99761b28161ae30b9a283860a0ba15
https://doi.org/10.1038/ng.3354
https://doi.org/10.1038/ng.3354
Autor:
Michael Orth, Bjarne Udd, Markus Otto, Peter M. Andersen, S.K. Ponna, Kerstin Kojer, Kathrin Muller, Jörg Reinders, Christoph Paone, Peter Lichtner, Petri Kursula, Andreas Hermann, Karin M Danzer, Steffen Just, Anika M. Helferich, Paul Walther, Manu Jokela, Jochen H. Weishaupt, Mari Auranen, Sarah J Brockmann, Axel Freischmidt, Albert C. Ludolph, Patrick Oeckl
Publikováno v:
Human molecular genetics 27(4), 706-715 (2018). doi:10.1093/hmg/ddx436
Hum. Mol. Genet. 27, 706-715 (2018)
Hum. Mol. Genet. 27, 706-715 (2018)
Mutations in the mitochondrially located protein CHCHD10 cause motoneuron disease by an unknown mechanism. In this study, we investigate the mutations p. R15L and p. G66V in comparison to wild-type CHCHD10 and the non-pathogenic variant p. P34S in vi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aab8a25348673d8f4074e4f547b293a9
https://pubmed.ncbi.nlm.nih.gov/29315381
https://pubmed.ncbi.nlm.nih.gov/29315381
Autor:
Manu Sharma, Anne-Kathrin Hauser, Rejko Krüger, Olaf Riess, Johannes Madlung, Rahel Lewin, Evangelia Vartholomaiou, Dheeraj Reddy Bobbili, L. Miguel Martins, Katja Schenke-Layland, Brigitte Maurer, Manuela Kübler, Richard Wüst, Thomas Gasser, Patrick May, Kevin M Schindler, Enrico Glaab, L. Schwarz, Alexander Zimprich, Christine Bus, Kathrin Brockmann, Didier Picard, Julia C. Fitzgerald, Alfred Nordheim, Claudia Schulte, Daniel A. Carvajal Berrio
Publikováno v:
Brain 140(9), 2444-2459 (2017). doi:10.1093/brain/awx202
Brain, Vol. 140, No 9 (2017) pp. 2444-2459
Brain
Brain, Vol. 140, No 9 (2017) pp. 2444-2459
Brain
The mitochondrial proteins TRAP1 and HTRA2 have previously been shown to be phosphorylated in the presence of the Parkinson's disease kinase PINK1 but the downstream signalling is unknown. HTRA2 and PINK1 loss of function causes parkinsonism in human
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe19a6fc272abd7b85a4345863221b2a
https://publica.fraunhofer.de/handle/publica/251322
https://publica.fraunhofer.de/handle/publica/251322
Publikováno v:
Oncogene 34(11), 1363-1374 (2014). doi:10.1038/onc.2014.81
PINK1 (phosphatase and tensin homolog deleted on chromosome 10 (PTEN)-induced kinase 1), a Parkinson’s disease-associated gene, was identified originally because of its induction by the tumor-suppressor PTEN. PINK1 promotes cell survival and potent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5deef353ec4343b0c94ccdfcdc93e640
https://pub.dzne.de/record/137816
https://pub.dzne.de/record/137816
Autor:
Frank Maus, Dominik Sakry, Fabien Binamé, Khalad Karram, Krishnaraj Rajalingam, Colin Watts, Richard Heywood, Rejko Krüger, Judith Stegmüller, Hauke B Werner, Klaus-Armin Nave, Eva-Maria Krämer-Albers, Jacqueline Trotter
Publikováno v:
PLOS ONE 10(9), e0137311 (2015). doi:10.1371/journal.pone.0137311
PLoS ONE
PLoS ONE, Vol 10, Iss 9, p e0137311 (2015)
PLoS ONE
PLoS ONE, Vol 10, Iss 9, p e0137311 (2015)
The NG2 proteoglycan is characteristically expressed by oligodendrocyte progenitor cells (OPC) and also by aggressive brain tumours highly resistant to chemo- and radiation therapy. Oligodendrocyte-lineage cells are particularly sensitive to stress r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a702c46cc767bfcb3d3585e584f35159
https://pub.dzne.de/record/138091
https://pub.dzne.de/record/138091
Autor:
Enrico Glaab, Thomas Ott, Hartwig Wolburg, Stefan Helling, Julia C. Fitzgerald, Rejko Krüger, Caroline May, Jing Chen, Katrin Marcus, Nicolas Casadei, Poonam Sood, Silke Nuber, Olaf Riess, Petra Fallier-Becker, Doron Rapaport, Thomas Ulrich, Nicole Kieper
Publikováno v:
Human molecular genetics 25(24), ddw353 (2016). doi:10.1093/hmg/ddw353
Human molecular genetics 25(3), 459-471 (2015). doi:10.1093/hmg/ddv485
Human Molecular Genetics
Human molecular genetics 25(3), 459-471 (2015). doi:10.1093/hmg/ddv485
Human Molecular Genetics
The protease HtrA2 has a protective role inside mitochondria, but promotes apoptosis under stress. We previously identified the G399S HtrA2 mutation in Parkinson's disease (PD) patients and reported mitochondrial dysfunction in vitro. Mitochondrial d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f17945c47908f8982a83e5f350b4750
https://doi.org/10.1093/hmg/ddw353
https://doi.org/10.1093/hmg/ddw353
Autor:
Helene Plun-Favreau, J. C. Fitzgerald, L. Dunn, Nicholas W. Wood, Nancy Y. Ip, L M Martins, M. D. Camprubi, Rejko Krüger, H.-C. Wu
Publikováno v:
Cell death and differentiation 19(2), 257-266 (2011). doi:10.1038/cdd.2011.90
The role of the serine protease HtrA2 in neuroprotection was initially identified by the demonstration of neurodegeneration in mice lacking HtrA2 expression or function, and the interesting finding that mutations adjacent to two putative phosphorylat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8eaf2578b2739b0f80286ccb482aba0a
https://pubmed.ncbi.nlm.nih.gov/21701498
https://pubmed.ncbi.nlm.nih.gov/21701498