Reetta Hinttala

Reetta Hinttala

Docent

Academy Research Fellow
Molecular and cellular medicine

Biography

I received my PhD degree in studies on mitochondrial complex I deficiencies in the Department of Neurology at the University of Oulu. I carried out my post doctoral studies at Montreal Neurological Institute, McGill University, Canada, in prof. Eric Shoubridge's laboratory as a Marie Skłodowska-Curie Fellow. Currently I work as an Academy of Finland Research Fellow in the division of pediatric neurology of the PEDEGO research unit at the University of Oulu.

Research interests

  • molecular mechanisms behind neurological multiorgan diseases in children
  • mitochondrial diseases
  • tissue fibrosis
  • neurodevelopment

Databases

Selected publications

  • Uusimaa, Johanna; Kaarteenaho, Riitta; Paakkola, Teija; Tuominen, Hannu; Karjalainen, Minna K.; Nadaf, Javad; Varilo, Teppo; Uusi-Mäkelä, Meri; Suo-Palosaari, Maria; Pietilä, Ilkka; Hiltunen, Anniina E.; Ruddock, Lloyd; Alanen, Heli; Biterova, Ekaterina; Miinalainen, Ilkka; Salminen, Annamari; Soininen, Raija; Manninen, Aki; Sormunen, Raija; Kaakinen, Mika (2018) NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease. - Acta Neuropathologica 135 (5), 727-742 .
  • Paakkola, T.; Vuopala, K.; Kokkonen, H.; Ignatius, J.; Valkama, M.; Moilanen, J. S.; Fahiminiya, S.; Majewski, J.; Hinttala, R.; Uusimaa, J. (2018) A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss. - Clinical genetics 93 (1), 173-177 .
  • Diggle, Christine P.; Rizzo, Stacey J. Sukoff; Popiolek, Michael; Hinttala, Reetta; Schülke, Jan-Philip; Kurian, Manju A.; Carr, Ian M.; Markham, Alexander F.; Bonthron, David T.; Watson, Christopher; Sharif, Saghira Malik; Reinhart, Veronica; James, Larry C.; Vanase-Frawley, Michelle A.; Charych, Erik; Allen, Melanie; Harms, John; Schmidt, Christopher J.; Ng, Joanne; Pysden, Karen (2016) Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy. - American journal of human genetics 98 (4), 735-743 .
  • Hautakangas, Milla-Riikka; Hinttala, Reetta; Rantala, Heikki; Nieminen, Pentti; Uusimaa, Johanna; Hassinen, Ilmo E. (2016) Evaluating clinical mitochondrial respiratory chain enzymes from biopsy specimens presenting skewed probability distribution of activity data. - Mitochondrion 29, 53-58 .
  • Hinttala, Reetta; Sasarman, Florin; Nishimura, Tamiko; Antonicka, Hana; Brunel-Guitton, Catherine; Schwartzentruber, Jeremy; Fahiminiya, Somayyeh; Majewski, Jacek; Faubert, Denis; Ostergaard, Elsebet; Smeitink, Jan A.; Shoubridge, Eric A. (2015) An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase. - Human Molecular Genetics 24 (14), 4103-4113
  • Komulainen, Tuomas; Lodge, Tiffany; Hinttala, Reetta; Bolszak, Maija; Pietila, Mika; Koivunen, Peppi; Hakkola, Jukka; Poulton, Joanna; Morten, Karl J.; Uusimaa, Johanna (2015) Sodium valproate induces mitochondrial respiration dysfunction in HepG2 in vitro cell model. - Toxicology 331, 47-56