Scientific Publication 

An Unorthodox Disease Mechanism

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

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.

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.


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