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  • PL 56 (Viikinkaari 5)

    00014

    Finland

  • Viikinkaari 5, Biocenter 2

    00790 Helsinki

    Finland

19962019
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Personal profile

Education/Academic qualification

Human Genetics, Ph.D., McGill University

Keywords

  • 314 Health sciences
  • molecular genetics
  • metabolism
  • mitochondria
  • Gene expression

International and National Collaboration Publications and projects within past five years.

Publications 1996 2019

A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement

Jackson, C. B., Huemer, M., Bolognini, R., Martin, F., Szinnai, G., Donner, B. C., Richter, U., Battersby, B. J., Nuoffer, J-M., Suomalainen, A. & Schaller, A., 15 Feb 2019, In : Human Molecular Genetics. 28, 4, p. 639-649 11 p.

Research output: Contribution to journalArticleScientificpeer-review

Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity

Mancini, C., Hoxha, E., Iommarini, L., Brussino, A., Richter, U., Montarolo, F., Cagnoli, C., Parolisi, R., Gondor Morosini, D. I., Nicolò, V., Maltecca, F., Muratori, L., Ronchi, G., Geuna, S., Arnaboldi, F., Donetti, E., Giorgio, E., Cavalieri, S., Di Gregorio, E., Pozzi, E. & 11 othersFerrero, M., Riberi, E., Casari, G., Altruda, F., Turco, E., Gasparre, G., Battersby, B. J., Porcelli, A. M., Ferrero, E., Brusco, A. & Tempia, F., 1 Oct 2018, In : Neurobiology of Disease. 124, p. 14-28 15 p.

Research output: Contribution to journalArticleScientificpeer-review

Mitochondrial diseases: the contribution of organelle stress responses to pathology

Suomalainen, A. & Battersby, B. J., 1 Feb 2018, In : Nature Reviews. Molecular Cell Biology. 19, 2, p. 77-92 16 p.

Research output: Contribution to journalArticleScientificpeer-review

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

Thompson, K., Mai, N., Oláhová, M., Scialó, F., Formosa, L. E., Stroud, D. A., Garrett, M., Lax, N. Z., Robertson, F. M., Jou, C., Nascimento, A., Ortez, C., Jimenez-Mallebrera, C., Hardy, S. A., He, L., Brown, G. K., Marttinen, P., McFarland, R., Sanz, A., Battersby, B. J. & 5 othersBonnen, P. E., Ryan, M. T., Chrzanowska-Lightowlers, Z. M., Lightowlers, R. N. & Taylor, R. W., 1 Nov 2018, In : EMBO molecular medicine. 10, 11, 13 p., e9060.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

RNA modification landscape of the human mitochondrial tRNA(LYs) regulates protein synthesis

Richter, U., Evans, M. E., Clark, W. C., Marttinen, P., Shoubridge, E. A., Suomalainen, A., Wredenberg, A., Wedell, A., Pan, T. & Battersby, B. J., 27 Sep 2018, In : Nature Communications. 9, 11 p., 3966.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Activities 2007 2015

Coordinator and lecturer of "Research Discussions for Ph.D. Students"

Brendan Battersby (Speaker: Presenter)
2015 → …

Activity: Participating in or organising an event typesOrganisation and participation in conferences, workshops, courses, seminars

Doctoral Programme Biomedicine (DPBM), University of Helsinki (External organisation)

Brendan Battersby (Assessment)
2015

Activity: Membership typesMembership or other role in review committee

Lecturer for Master's Degree Program in Translational Medicine

Brendan Battersby (Speaker: Presenter)
2014

Activity: Participating in or organising an event typesOrganisation and participation in conferences, workshops, courses, seminars

Integrative Life Science (ILS) Doctoral programme, University of Helsinki (External organisation)

Brendan Battersby (Assessment)
2014

Activity: Membership typesMembership or other role in review committee

Co-organizer of FinMIT International Summer School: Mitochondria and Organelle Communication

Brendan Battersby (Member of organizing committee)
1 Jun 20138 Jun 2013

Activity: Participating in or organising an event typesOrganisation and participation in conferences, workshops, courses, seminars