Opendata, web and dolomites



Total Cost €


EC-Contrib. €






 MITOBIOPATH project word cloud

Explore the words cloud of the MITOBIOPATH project. It provides you a very rough idea of what is the project "MITOBIOPATH" about.

children    performed    delay    disorders    parkin    cellular    respiratory    sequencing    mechanism    biochemical    animal    combined    muscle    mutation    hypotonia    leucine    mouse    wes    box    chain    proteins    patients    biogenetic    poorly    cohort    repeat    dna    mutant    molecular    60    cell    mtdna    onset    defects    implementing    multiple    maintenance    disease    discovery    unknown    mitochondrial    mutations    functional    severe    proteomic    vivo    presenting    expressing    unbiased    hallmarked    syndrome    models    mrc    mitobiopath    liver    metabolism    paediatric    six    model    thrive    immortalized    approximately    definition    copy    cas9    genetic    defect    revealed    discovering    encephalomyopathy    crisp    exome    multisystem    characterization    neurodegenerative    protein    link    developmental    knock    integrity    found    expression    genes    fbxl4    pathogenic    28    proteasome    gene    latter    zebrafish    fibroblasts    lack    lines    screening    function   

Project "MITOBIOPATH" data sheet

The following table provides information about the project.


Organization address
postcode: CB2 1TN

contact info
title: n.a.
name: n.a.
surname: n.a.
function: n.a.
email: n.a.
telephone: n.a.
fax: n.a.

 Coordinator Country United Kingdom [UK]
 Project website
 Total cost 195˙454 €
 EC max contribution 195˙454 € (100%)
 Programme 1. H2020-EU.1.3.2. (Nurturing excellence by means of cross-border and cross-sector mobility)
 Code Call H2020-MSCA-IF-2015
 Funding Scheme MSCA-IF-EF-RI
 Starting year 2016
 Duration (year-month-day) from 2016-05-01   to  2018-04-30


Take a look of project's partnership.

# participants  country  role  EC contrib. [€] 
2    MEDICAL RESEARCH COUNCIL UK (SWINDON) participant 81˙439.00


 Project objective

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
List of publications.
2017 Caterina Garone, Aaron R D’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
2018 Caterina Garone, Robert W Taylor, Andrés Nascimento, Joanna Poulton, Carl Fratter, Cristina Domínguez-González, 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 Cámara, Marcos Madruga-Garrido, Jana Domínguez-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
2017 Peter J Kullar, Aurora Gomez-Duran, Payam A Gammage, Caterina Garone, Michal Minczuk, Zoe Golder, Janet Wilson, Julio Montoya, Sanna Häkli, Mikko Kärppä, 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
Brain 141/1 2019-06-13
2017 René G. Feichtinger, Monika Oláhová, Yoshihito Kishita, Caterina Garone, Laura S. Kremer, Mikako Yagi, Takeshi Uchiumi, Alexis A. Jourdain, Kyle Thompson, Aaron R. D’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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