An Unorthodox Disease Mechanism

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

Essential proteins are defined as those that are necessary for living. In theory, homozygous loss-of-function variants that only affect certain isoforms may still be found in living individuals. A recent study involving patients that were identified at CENTOGENE presents one of the first examples of a disease-relevance of this rare constellation. It was published in the highly prestigious journal, Acta Neuropathologica.

Authors

  • Elena Perenthaler , MSc
  • Anita Nikoncuk
  • Soheil Yousefi , Ph.D
  • Woutje M Berdowski
  • Maysoon Alsagob , MSc
  • Ivan Capo
  • Herma C. van der Linde
  • Paul van den Berg
  • Edwin H. Jacobs
  • Darija Putar
  • Mehrnaz Ghazvini , PhD
  • Eleonora Aronica , MD, PhD
  • Wilfred Van IJcken , Dr ir
  • Walter G. de Valk
  • Evita Medici-van den Herik
  • Marjon van Slegtenhorst
  • Lauren Brick
  • Mariya Kozenko
  • Jennefer N. Kohler
  • Jonathan Bernstein , MD
  • Kristin G Monaghan
  • Amber Begtrup
  • Rebecca I. Torene
  • Amna Al Futaisi , MD, FRCPC, FRCPCH
  • Fathiya Al Murshedi
  • Renjith Mani
  • Faisal Al Azri
  • Erik-Jan Kamsteeg
  • Majid Mojarrad
  • Atieh Eslahi
  • Zaynab Khazaei
  • Fateme Massinaei Darmiyan
  • Mohammad Doosti , PhD
  • Ehsan Ghayoor Karimiani , MD MRes PhD
  • Jana Vandrovcova
  • Faisal Zafar
  • Nuzhat Rana
  • Krishna Kumar Kandaswamy , PhD
  • Jozef Hertecant
  • Dr. Peter Bauer , MD
  • Mohammed A. AlMuhaizea
  • Mustafa Salih , MD, Dr Med Sci, FRCPCH, FAAN
  • Mazhor Aldosary
  • Rawan Mohammedomar Almass
  • Laila Al-Quait
  • Wafa Qubbaj
  • Serdar Coskun
  • Khaled O. Alahmadi
  • Muddathir H. A. Hamad
  • Salem Alwadaee
  • Khalid Awartani
  • Anas M. Dababo
  • Futwan Almohanna
  • Dilek Colak
  • Mohammadreza Dehghani , MD, PhD
  • Mohammad Yahya Vahidi Mehrjardi
  • Murat Gunel
  • Ad Gulhan Ercan-Sencicek , PhD
  • Gouri Rao Passi
  • Huma Arshad Cheema
  • Stephanie Efthymiou , BSc MSc PhD
  • Henry Houlden , MD PhD
  • Aida M. Bertoli-Avella , MD
  • Alice S Brooks
  • Kyle Retterer
  • Reza Maroofian , PhD
  • Namik Kaya , MSc, PhD
  • Tjakko J Van Ham
  • Tahsin Stefan Barakat , PhD, MD

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