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