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  • Tazelaar, Gijs H.P.Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands (författare)

Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis

  • Artikel/kapitelEngelska2023

Förlag, utgivningsår, omfång ...

  • Elsevier,2023
  • electronicrdacarrier

Nummerbeteckningar

  • LIBRIS-ID:oai:DiVA.org:umu-201947
  • https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-201947URI
  • https://doi.org/10.1016/j.neurobiolaging.2022.11.010DOI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

Ingår i deldatabas

Klassifikation

  • Ämneskategori:ref swepub-contenttype
  • Ämneskategori:art swepub-publicationtype

Anmärkningar

  • Amyotrophic lateral sclerosis is a heterogeneous, fatal neurodegenerative disease, characterized by motor neuron loss and in 50% of cases also by cognitive and/or behavioral changes. Mendelian forms of ALS comprise approximately 10-15% of cases. The majority is however considered sporadic, but also with a high contribution of genetic risk factors. To explore the contribution of somatic mutations and/or epigenetic changes to disease risk, we performed whole genome sequencing and methylation analyses using samples from multiple tissues on a cohort of 26 monozygotic twins discordant for ALS, followed by in-depth validation and replication experiments. The results of these analyses implicate several mechanisms in ALS pathophysiology, which include a role for de novo mutations, defects in DNA damage repair and accelerated aging.

Ämnesord och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Hop, Paul J.Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands (författare)
  • Seelen, MeinieDepartment of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands (författare)
  • van Vugt, Joke J.F.A.Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands (författare)
  • van Rheenen, WouterDepartment of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands (författare)
  • Kool, LindyDepartment of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands (författare)
  • van Eijk, Kristel R.Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands (författare)
  • Gijzen, MarleenDepartment of Genetics, University Medical Center Utrecht, Utrecht, Netherlands (författare)
  • Dooijes, DennisDepartment of Genetics, University Medical Center Utrecht, Utrecht, Netherlands (författare)
  • Moisse, MatthieuNeurology Department University Hospitals Leuven, Department of Neurosciences and Leuven Brain Institute (LBI) KU Leuven—University of Leuven, Leuven, Belgium; VIB, Center for Brain & Disease Research, Leuven, Belgium (författare)
  • Calvo, AndreaALS Centre, “Rita Levi Montalcini” Department of Neuroscience, University of Turin, Turin, Italy; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, SC Neurologia 1U, Turin, Italy; Neuroscience Institute of Turin (NIT), Turin, Italy (författare)
  • Moglia, CristinaALS Centre, “Rita Levi Montalcini” Department of Neuroscience, University of Turin, Turin, Italy; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, SC Neurologia 1U, Turin, Italy; Neuroscience Institute of Turin (NIT), Turin, Italy (författare)
  • Brunetti, MauraALS Centre, “Rita Levi Montalcini” Department of Neuroscience, University of Turin, Turin, Italy; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, SC Neurologia 1U, Turin, Italy; Neuroscience Institute of Turin (NIT), Turin, Italy (författare)
  • Canosa, AntonioALS Centre, “Rita Levi Montalcini” Department of Neuroscience, University of Turin, Turin, Italy; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, SC Neurologia 1U, Turin, Italy; Neuroscience Institute of Turin (NIT), Turin, Italy (författare)
  • Nordin, AngelicaUmeå universitet,Neurovetenskaper(Swepub:umu)acaoln03 (författare)
  • Pardina, Jesus S. MoraALS Unit, Hospital San Rafael, Madrid, Spain (författare)
  • Ravits, JohnDepartment of Neurosciences, University of California at San Diego, CA, La Jolla, United States (författare)
  • Al-Chalabi, AmmarDepartment of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute and United Kingdom Dementia Research Institute, King's College London, London, United Kingdom; Department of Neurology, King's College Hospital, London, United Kingdom (författare)
  • Chio, AdrianoALS Centre, “Rita Levi Montalcini” Department of Neuroscience, University of Turin, Turin, Italy; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, SC Neurologia 1U, Turin, Italy; Neuroscience Institute of Turin (NIT), Turin, Italy (författare)
  • McLaughlin, Russell L.Population Genetics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Ireland (författare)
  • Hardiman, OrlaAcademic Unit of Neurology, Trinity College Dublin, Trinity Biomedical Sciences Institute, Dublin, Ireland; Department of Neurology, Beaumont Hospital, Dublin, Ireland (författare)
  • Van Damme, PhilipNeurology Department University Hospitals Leuven, Department of Neurosciences and Leuven Brain Institute (LBI) KU Leuven—University of Leuven, Leuven, Belgium; VIB, Center for Brain & Disease Research, Leuven, Belgium (författare)
  • de Carvalho, MamedeDepartment of Neurosciences, Hospital de Santa Maria-CHLN, Lisbon, Portugal; Institute of Physiology, Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Lisbon, Portugal (författare)
  • Neuwirth, ChristophNeuromuscular Diseases Unit / ALS Clinic, Kantonsspital St.Gallen, St.Gallen, Switzerland (författare)
  • Weber, MarkusNeuromuscular Diseases Unit / ALS Clinic, Kantonsspital St.Gallen, St.Gallen, Switzerland (författare)
  • Andersen, Peter M.,1962-Umeå universitet,Neurovetenskaper(Swepub:umu)pean0001 (författare)
  • van den Berg, Leonard H.Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands (författare)
  • Veldink, Jan H.Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands (författare)
  • van Es, Michael A.Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands (författare)
  • Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, NetherlandsDepartment of Genetics, University Medical Center Utrecht, Utrecht, Netherlands (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:Neurobiology of Aging: Elsevier122, s. 76-870197-45801558-1497

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