• Brain Proteome Profiling Reveals Common and Divergent Signatures in Parkinson’s Disease, Multiple System Atrophy, and Progressive Supranuclear Palsy 

      Dick, Fiona; Johanson, Gard Aasmund Skulstad; Tysnes, Ole-Bjørn; Alves, Guido Werner; Dölle, Christian; Tzoulis, Charalampos (Journal article; Peer reviewed, 2024)
      The molecular pathogenesis of degenerative parkinsonisms, including Parkinson’s disease (PD), progressive supranuclear palsy (PSP), and Multiple system atrophy (MSA), remains largely unknown. To gain novel insight into ...
    • Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease 

      Dölle, Christian; Flønes, Irene Hana; Sanchez Nido, Gonzalo; Miletic, Hrvoje; Osuagwu, Nelson; Kristoffersen, Stine; Lilleng, Peer Kåre; Larsen, Jan Petter; Tysnes, Ole-Bjørn; Haugarvoll, Kristoffer; Bindoff, Laurence; Tzoulis, Charalampos (Peer reviewed; Journal article, 2016-11-22)
      Increased somatic mitochondrial DNA (mtDNA) mutagenesis causes premature aging in mice, and mtDNA damage accumulates in the human brain with aging and neurodegenerative disorders such as Parkinson disease (PD). Here, we ...
    • Differential transcript usage in the Parkinson’s disease brain 

      Dick, Fiona; Sanchez Nido, Gonzalo; Alves, Guido Werner; Tysnes, Ole-Bjørn; Nilsen, Gry Hilde; Dölle, Christian; Tzoulis, Charalampos (Peer reviewed; Journal article, 2020)
      Studies of differential gene expression have identified several molecular signatures and pathways associated with Parkinson’s disease (PD). The role of isoform switches and differential transcript usage (DTU) remains, ...
    • Genome-wide histone acetylation analysis reveals altered transcriptional regulation in the Parkinson’s disease brain 

      Toker, Lilah; Tran, Gia T.; Sundaresan, Janani; Tysnes, Ole-Bjørn; Alves, Guido; Haugarvoll, Kristoffer; Nido, Gonzalo S.; Dölle, Christian; Tzoulis, Charalampos (Journal article; Peer reviewed, 2021)
      Background: Parkinson’s disease (PD) is a complex, age-related neurodegenerative disorder of largely unknown etiology. PD is strongly associated with mitochondrial respiratory dysfunction, which can lead to epigenetic ...
    • Meta-analysis of whole-exome sequencing data from two independent cohorts finds no evidence for rare variant enrichment in Parkinson disease associated loci 

      Gaare, Johannes Jernqvist; Sanchez Nido, Gonzalo; Dölle, Christian; Sztromwasser, Pawel Szymon; Alves, Guido Werner; Tysnes, Ole-Bjørn; Haugarvoll, Kristoffer; Tzoulis, Charalampos (Journal article; Peer reviewed, 2020-10-01)
      Parkinson disease (PD) is a complex neurodegenerative disorder influenced by both environmental and genetic factors. While genome wide association studies have identified several susceptibility loci, many causal variants ...
    • Mitochondrial complex I deficiency stratifies idiopathic Parkinson’s disease 

      Flønes, Irene; Toker, Lilah; Sandnes, Dagny Ann; Castelli, Martina Galatea; Mostafavi, Sepideh; Lura, Njål; Shadad, Omnia; Fernandez-Vizarra, Erika; Painous, Cèlia; Pérez-Soriano, Alexandra; Compta, Yaroslau; Molina-Porcel, Laura; Alves, Guido Werner; Tysnes, Ole-Bjørn; Dölle, Christian; Sanchez Nido, Gonzalo; Tzoulis, Charalampos (Journal article; Peer reviewed, 2024)
      Idiopathic Parkinson’s disease (iPD) is believed to have a heterogeneous pathophysiology, but molecular disease subtypes have not been identified. Here, we show that iPD can be stratified according to the severity of ...
    • Mitochondrial respiratory chain deficiency correlates with the severity of neuropathology in sporadic Creutzfeldt-Jakob disease 

      Flønes, Irene Hana; Ricken, Gerda; Klotz, Sigrid; Lang, Alexandra; Ströbel, Thomas; Dölle, Christian; Kovacs, Gabor G.; Tzoulis, Charalampos (Journal article; Peer reviewed, 2020)
      Mitochondrial dysfunction has been implicated in multiple neurodegenerative diseases but remains largely unexplored in Creutzfeldt-Jakob disease. Here, we characterize the mitochondrial respiratory chain at the individual ...
    • The NADPARK study: A randomized phase I trial of nicotinamide riboside supplementation in Parkinson’s disease 

      Brakedal, Brage; Dölle, Christian; Riemer, Frank; Ma, Yilong; Nido, Gonzalo Sanchez; Skeie, Geir Olve; Craven, Alexander R.; Schwarzlmüller, Thomas; Brekke, Njål; Diab, Joseph; Sverkeli, Lars Jansen; Skjeie, Vivian; Varhaug, Kristin Nielsen; Tysnes, Ole-Bjørn; Peng, Shichun; Haugarvoll, Kristoffer; Ziegler, Mathias; Grüner, Renate; Eidelberg, David; Tzoulis, Charalampos (Journal article; Peer reviewed, 2022)
      We conducted a double-blinded phase I clinical trial to establish whether nicotinamide adenine dinucleotide (NAD) replenishment therapy, via oral intake of nicotinamide riboside (NR), is safe, augments cerebral NAD levels, ...
    • Nicotinamide riboside supplementation is not associated with altered methylation homeostasis in Parkinson's disease 

      Gaare, Johannes Jernqvist; Dölle, Christian; Brakedal, Brage; Brügger, Kim; Haugarvoll, Kristoffer; Sanchez Nido, Gonzalo; Tzoulis, Charalampos (Journal article; Peer reviewed, 2023)
      Replenishing nicotinamide adenine dinucleotide (NAD) via supplementation of nicotinamide riboside (NR) has been shown to confer neuroprotective effects in models of aging and neurodegenerative diseases, including Parkinson’s ...
    • NR-SAFE: a randomized, double-blind safety trial of high dose nicotinamide riboside in Parkinson’s disease 

      Berven, Haakon; Kverneng, Simon Ulvenes; Sheard, Erika; Søgnen, Mona; Af Geijerstam, Solveig Amdahl; Haugarvoll, Kristoffer; Skeie, Geir Olve; Dölle, Christian; Tzoulis, Charalampos (Journal article; Peer reviewed, 2023)
      Nicotinamide adenine dinucleotide (NAD) replenishment therapy using nicotinamide riboside (NR) shows promise for Parkinson’s disease (PD) and other neurodegenerative disorders. However, the optimal dose of NR remains ...
    • Poly-ADP-ribose assisted protein localization resolves that DJ-1, but not LRRK2 or α-synuclein, is localized to the mitochondrial matrix 

      Osuagwu, Nelson Uchechukwu; Dölle, Christian; Tzoulis, Charalampos (Peer reviewed; Journal article, 2019)
      Several proteins linked to familial Parkinson disease have been associated with mitochondrial (dys-)function and have been described to reside within mitochondria. The putative mitochondrial and sub-mitochondrial localization ...
    • The STRAT-PARK cohort: A personalized initiative to stratify Parkinson's disease 

      Stige, Kjersti Eline; Kverneng, Simon Ulvenes; Sharma, Soumya; Skeie, Geir Olve; Sheard, Erika; Søgnen, Mona; Af Geijerstam, Solveig; Vetås, Therese; Wahlvåg, Anne Grete; Berven, Haakon; Buch, Sagar; Reese, David; Babiker, Dina; Mahdi, Yekta; Wade, Trevor; Miranda, Gala Prado; Ganguly, Jacky; Tamilselvam, Yokhesh Krishnasamy; Chai, Jia Ren; Bansal, Saurabh; Aur, Dorian; Soltani, Sima; Adams, Scott; Dölle, Christian; Dick, Fiona; Berntsen, Erik Magnus; Grüner, Renate; Brekke, Njål; Riemer, Frank; Goa, Pål Erik; Haugarvoll, Kristoffer; Haacke, E. Mark; Jog, Mandar; Tzoulis, Charalampos (Journal article; Peer reviewed, 2024)
      The STRAT-PARK initiative aims to provide a platform for stratifying Parkinson’s disease (PD) into biological subtypes, using a bottom-up, multidisciplinary biomarker-based and data-driven approach. PD is a heterogeneous ...
    • Ultra-deep whole genome bisulfite sequencing reveals a single methylation hotspot in human brain mitochondrial DNA 

      Guitton, Romain Guillaume Bernard; Dölle, Christian; Alves, Guido Werner; Tysnes, Ole-Bjørn; Nido, Gonzalo Sanchez; Tzoulis, Charalampos (Journal article; Peer reviewed, 2022)
      While DNA methylation is established as a major regulator of gene expression in the nucleus, the existence of mitochondrial DNA (mtDNA) methylation remains controversial. Here, we characterized the mtDNA methylation landscape ...