• Common gene expression signatures in Parkinson’s disease are driven by changes in cell composition 

      Sanchez Nido, Gonzalo; Dick, Fiona; Toker, Lilah; Petersen, Kjell; Alves, Guido Werner; Tysnes, Ole-Bjørn; Jonassen, Inge; Haugarvoll, Kristoffer; Tzoulis, Charalampos (Journal article; Peer reviewed, 2020-04-21)
      The etiology of Parkinson’s disease is largely unknown. Genome-wide transcriptomic studies in bulk brain tissue have identified several molecular signatures associated with the disease. While these studies have the potential ...
    • 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 ...
    • GBA2 mutations cause a Marinesco-Sjogren-like syndrome: Genetic and biochemical studies 

      Haugarvoll, Kristoffer; Johansson, Stefan; Rodriguez, Carlos E.; Boman, Helge; Haukanes, Bjørn Ivar; Bruland, Ove; Roque, Francisco; Jonassen, Inge; Blomqvist, Maria; Telstad, Wenche; Månsson, Jan-Eric; Knappskog, Per; Bindoff, Laurence (Peer reviewed; Journal article, 2017-01-04)
      Background: With the advent new sequencing technologies, we now have the tools to understand the phenotypic diversity and the common occurrence of phenocopies. We used these techniques to investigate two Norwegian families ...
    • 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 ...
    • In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins 

      Pakdaman, Yasaman; Sanchez Guixe, Monica; Kleppe, Rune; Erdal, Sigrid; Bustad, Helene J.; Bjørkhaug, Lise; Haugarvoll, Kristoffer; Tzoulis, Charalampos; Heimdal, Ketil Riddervold; Knappskog, Per; Johansson, Stefan; Aukrust, Ingvild (Peer reviewed; Journal article, 2017)
      Spinocerebellar ataxia, autosomal recessive 16 (SCAR16) is caused by biallelic mutations in the STIP1 homology and U-box containing protein 1 (STUB1) gene encoding the ubiquitin E3 ligase and dimeric co-chaperone C-terminus ...
    • 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 ...
    • MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing 

      Haugarvoll, Kristoffer; Johansson, Stefan; Tzoulis, Charalampos; Haukanes, Bjørn Ivar; Bredrup, Cecilie; Neckelmann, Gesche; Boman, Helge; Knappskog, Per; Bindoff, Laurence (Peer reviewed; Journal article, 2013-01-03)
      Background: Correct diagnosis is pivotal to understand and treat neurological disease. Herein, we report the diagnostic work-up utilizing exome sequencing and the characterization of clinical features and brain MRI in two ...
    • 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, ...
    • A nationwide study of the incidence, prevalence and mortality of Parkinson’s disease in the Norwegian population 

      Brakedal, Brage; Toker, Lilah; Haugarvoll, Kristoffer; Tzoulis, Charalampos (Journal article; Peer reviewed, 2022)
      Epidemiological studies of Parkinson’s disease (PD) show variable and partially conflicting findings with regard to incidence, prevalence, and mortality. These differences are commonly attributed to technical and methodological ...
    • NSAID use is not associated with Parkinson's disease incidence: A Norwegian Prescription Database study 

      Brakedal, Brage; Tzoulis, Charalampos; Tysnes, Ole-Bjørn; Haugarvoll, Kristoffer (Journal article; Peer reviewed, 2021-09-07)
      Objective: Whether use of nonsteroidal anti-inflammatory drugs (NSAIDs) reduce the risk of incident Parkinson’s disease (PD) remains unresolved. Here, we employed the Norwegian Prescription Database to examine whether NSAID ...