Elena Perenthaler

1. 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
   2019/12/09 by Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi +66 · 4 citations
   Biochemistry, Genetics and Molecular Biology · Medicine · #Genetics and Neurodevelopmental Disorders #Pancreatic function and diabetes #Glycosylation and Glycoproteins Research
2. The Why of YY1: Mechanisms of Transcriptional Regulation by Yin Yang 1
   2020/09/30 by Thijs C. J. Verheul, Levi van Hijfte, Elena Perenthaler +1 · 1 citation
   Biochemistry, Genetics and Molecular Biology · #Genomics and Chromatin Dynamics #RNA Research and Splicing #RNA modifications and cancer