Explore the words cloud of the MITOBIOPATH project. It provides you a very rough idea of what is the project "MITOBIOPATH" about.
The following table provides information about the project.
THE CHANCELLOR MASTERS AND SCHOLARSOF THE UNIVERSITY OF CAMBRIDGE
|Coordinator Country||United Kingdom [UK]|
|Total cost||195˙454 €|
|EC max contribution||195˙454 € (100%)|
1. H2020-EU.1.3.2. (Nurturing excellence by means of cross-border and cross-sector mobility)
|Duration (year-month-day)||from 2016-05-01 to 2018-04-30|
Take a look of project's partnership.
|1||THE CHANCELLOR MASTERS AND SCHOLARSOF THE UNIVERSITY OF CAMBRIDGE||UK (CAMBRIDGE)||coordinator||114˙015.00|
|2||MEDICAL RESEARCH COUNCIL||UK (SWINDON)||participant||81˙439.00|
Defects of mitochondrial DNA (mtDNA) metabolism (maintenance, integrity and expression) are the most common cause of multiple mitochondrial respiratory chain (MRC) defects in children. Several new disease genes have been identified in these complex pathways but the functional link between mutant protein and mtDNA metabolism is unknown or poorly understood. Example of the latter is FBXL4 (F-box and leucine-rich repeat protein 4) gene, mutations of which have been recently found in 28 patients with a multisystem complex syndrome, hallmarked by combined MRC defect and reduction of mtDNA copy number in muscle and fibroblasts. Approximately 60% of patients still lack genetic definition of their disease. Objective of MITOBIOPATH proposal is the discovery and characterization of novel mitochondrial biogenetic and maintenance pathways by implementing three specific aims. 1) Gene discovering by whole exome sequencing (WES): unbiased WES screening will be applied to a large cohort of paediatric patients presenting early onset hypotonia, developmental delay, failure to thrive, severe encephalomyopathy and/or liver failure associated with combined MRC defects. 2) Pathogenic pathways revealed by new gene defects: functional studies using cellular and animal models (knock-out zebrafish or mouse models) will be performed to establish the pathogenic mechanism of the mutation(s) and the function of unknown disease-associated protein(s); 3) FBXL4 function in cellular and in vivo models: immortalized cell lines expressing six different FBXL4 mutations will be generated by using CRISP/Cas9 technology and characterized with a combined molecular, biochemical and proteomic approaches. In addition, proteins in the Parkin-proteasome complex were recently identified as potential partners of FBXl4, and they will be further analyzed. Knock-out mouse model of Fbxl4 will be also investigated. Overall results will have impact on both mitochondrial disorders and other neurodegenerative disease.
|year||authors and title||journal||last update|
Caterina Garone, Aaron R Dâ€™Souza, Cristina Dallabona, Tiziana Lodi, Pedro Rebelo-Guiomar, Joanna Rorbach, Maria Alice Donati, Elena Procopio, Martino Montomoli, Renzo Guerrini, Massimo Zeviani, Sarah E Calvo, Vamsi K Mootha, Salvatore DiMauro, Ileana Ferrero, Michal Minczuk
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome
published pages: 4257-4266, ISSN: 0964-6906, DOI: 10.1093/hmg/ddx314
|Human Molecular Genetics 26/21||2019-06-13|
Caterina Garone, Robert W Taylor, AndrÃ©s Nascimento, Joanna Poulton, Carl Fratter, Cristina DomÃnguez-GonzÃ¡lez, Julie C Evans, Mariana Loos, Pirjo Isohanni, Anu Suomalainen, Dipak Ram, M Imelda Hughes, Robert McFarland, Emanuele Barca, Carlos Lopez Gomez, Sandeep Jayawant, Neil D Thomas, Adnan Y Manzur, Karin Kleinsteuber, Miguel A Martin, Timothy Kerr, Grainne S Gorman, Ewen W Sommerville, Patrick F Chinnery, Monika Hofer, Christoph Karch, Jeffrey Ralph, Yolanda CÃ¡mara, Marcos Madruga-Garrido, Jana DomÃnguez-Carral, Carlos Ortez, Sonia Emperador, Julio Montoya, Anupam Chakrapani, Joshua F Kriger, Robert Schoenaker, Bruce Levin, John L P Thompson, Yuelin Long, Shamima Rahman, Maria Alice Donati, Salvatore DiMauro, Michio Hirano
Retrospective natural history of thymidine kinase 2 deficiency
published pages: jmedgenet-2017-1, ISSN: 0022-2593, DOI: 10.1136/jmedgenet-2017-105012
|Journal of Medical Genetics||2019-06-13|
Peter J Kullar, Aurora Gomez-Duran, Payam A Gammage, Caterina Garone, Michal Minczuk, Zoe Golder, Janet Wilson, Julio Montoya, Sanna HÃ¤kli, Mikko KÃ¤rppÃ¤, Rita Horvath, Kari Majamaa, Patrick F Chinnery
Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family
published pages: 55-62, ISSN: 0006-8950, DOI: 10.1093/brain/awx295
RenÃ© G. Feichtinger, Monika OlÃ¡hovÃ¡, Yoshihito Kishita, Caterina Garone, Laura S. Kremer, Mikako Yagi, Takeshi Uchiumi, Alexis A. Jourdain, Kyle Thompson, Aaron R. Dâ€™Souza, Robert Kopajtich, Charlotte L. Alston, Johannes Koch, Wolfgang Sperl, Elisa Mastantuono, Tim M. Strom, Saskia B. Wortmann, Thomas Meitinger, Germaine Pierre, Patrick F. Chinnery, Zofia M. Chrzanowska-Lightowlers, Robert N. Lightowlers, Salvatore DiMauro, Sarah E. Calvo, Vamsi K. Mootha, Maurizio Moggio, Monica Sciacco, Giacomo P. Comi, Dario Ronchi, Kei Murayama, Akira Ohtake, Pedro Rebelo-Guiomar, Masakazu Kohda, Dongchon Kang, Johannes A. Mayr, Robert W. Taylor, Yasushi Okazaki, Michal Minczuk, Holger Prokisch
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
published pages: 525-538, ISSN: 0002-9297, DOI: 10.1016/j.ajhg.2017.08.015
|The American Journal of Human Genetics 101/4||2019-06-13|
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