Blar i Department of Clinical Medicine på forfatter "Sanchez Nido, Gonzalo"

Viser treff 1-10 av 10

    • Altered transcriptome-proteome coupling indicates aberrant proteostasis in Parkinson's disease 

      Dick, Fiona; Tysnes, Ole-Bjørn; Alves, Guido Werner; Sanchez Nido, Gonzalo; Tzoulis, Charalampos (Journal article; Peer reviewed, 2023)
      Aberrant proteostasis is thought to be implicated in Parkinson’s disease (PD), but patient-derived evidence is scant. We hypothesized that impaired proteostasis is reflected as altered transcriptome-proteome correlation ...

    • 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 ...

    • 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, ...

    • DNA Methylation Age Acceleration Is Not Associated with Age of Onset in Parkinson's Disease 

      Gaare, Johannes Jernqvist; Brügger, Kim; Sanchez Nido, Gonzalo; Tzoulis, Charalampos (Journal article; Peer reviewed, 2023)
      Background Epigenetic clocks using DNA methylation (DNAm) to estimate biological age have become popular tools in the study of neurodegenerative diseases. Notably, several recent reports have shown a strikingly similar ...

    • 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 ...

    • 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 ...

    • Not every estimate counts – evaluation of cell composition estimation approaches in brain bulk tissue data 

      Toker, Lilah; Sanchez Nido, Gonzalo; Tzoulis, Charalampos (Journal article; Peer reviewed, 2023-06-07)
      Background: Variation in cell composition can dramatically impact analyses in bulk tissue samples. A commonly employed approach to mitigate this issue is to adjust statistical models using estimates of cell abundance derived ...

    • POLG genotype influences degree of mitochondrial dysfunction in iPSC derived neural progenitors, but not the parent iPSC or derived glia 

      Hong, Yu; Kristiansen, Cecilie Katrin; Chen, Anbin; Sanchez Nido, Gonzalo; Høyland, Lena Elise; Ziegler, Mathias; Sullivan, Gareth John; Bindoff, Laurence Albert; Liang, Xiao (Journal article; Peer reviewed, 2023)
      Diseases caused by POLG mutations are the most common form of mitochondrial diseases and associated with phenotypes of varying severity. Clinical studies have shown that patients with compound heterozygous POLG mutations ...

    • Using urine to diagnose large-scale mtDNA deletions in adult patients 

      Varhaug, Kristin Nielsen; Sanchez Nido, Gonzalo; de Coo, Irenaeus; Isohanni, Pirjo; Suomalainen, Anu; Tzoulis, Charalampos; Knappskog, Per; Bindoff, Laurence (Journal article; Peer reviewed, 2020)
      Objective: The aim of this study was to evaluate if urinary sediment cells offered a robust alternative to muscle biopsy for the diagnosis of single mtDNA deletions. Methods: Eleven adult patients with progressive ...