R
Risto Pohjolan-Pirhonen
Researcher at University of Helsinki
Publications - 2
Citations - 88
Risto Pohjolan-Pirhonen is an academic researcher from University of Helsinki. The author has contributed to research in topics: Mutation (genetic algorithm) & Phosphorylation. The author has an hindex of 2, co-authored 2 publications receiving 63 citations.
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Journal ArticleDOI
Phosphorylation of Parkin at serine 65 is essential for its activation in vivo.
Thomas G. McWilliams,Thomas G. McWilliams,Erica Barini,Risto Pohjolan-Pirhonen,Simon Philip Brooks,François Singh,Sophie Burel,Kristin Balk,Atul Kumar,Lambert Montava-Garriga,Alan R. Prescott,Sidi Mohamed Hassoun,François Mouton-Liger,Graeme Ball,Rachel Hills,Axel Knebel,Ayse Ulusoy,Donato A. Di Monte,Jevgenia Tamjar,Odetta Antico,Kyle Fears,Laura Smith,Riccardo Brambilla,Eino Palin,Miko Valori,Johanna Eerola-Rautio,Pentti J. Tienari,Olga Corti,Stephen B. Dunnett,Ian G. Ganley,Anu Suomalainen,Miratul M. K. Muqit +31 more
TL;DR: The clinical relevance of the findings is substantiated by the discovery of homozygous PARKIN (PARK2) p.S65N mutations in two unrelated patients with PD and biochemical and structural analysis demonstrates that the ParkinS 65N/S65n mutant is pathogenic and cannot be activated by PINK1.
Journal ArticleDOI
SNCA mutation p.Ala53Glu is derived from a common founder in the Finnish population.
Petra Pasanen,Petra Pasanen,Eino Palin,Risto Pohjolan-Pirhonen,Minna Pöyhönen,Minna Pöyhönen,Juha O. Rinne,Markku Päivärinta,Mika H. Martikainen,Valtteri Kaasinen,Valtteri Kaasinen,Marja Hietala,Maria Gardberg,Anna Maija Saukkonen,Johanna Eerola-Rautio,Seppo Kaakkola,Jukka Lyytinen,Pentti J. Tienari,Anders Paetau,Anu Suomalainen,Liisa Myllykangas +20 more
TL;DR: Haplotype analysis shows that patients with the p.Ala53Glu mutation share a haplotype spanning a minimum of 5.7 Mb suggesting a common founder, confirming that this mutation is a rare cause of PD in the Finnish population.