AKT-dependent nuclear localization of EPRS1 activates PARP1 in breast cancer cells.

Autor: Zin, Isaac, China, Arnab, Khan, Krishnendu, Nag, Jeetendra K., Vasu, Kommireddy, Deshpande, Gauravi M., Ghosh, Prabar K., Khan, Debjit, Ramachandiran, Iyappan, Ganguly, Shinjini, Tamagno, Ilaria, Willard, Belinda, Gogonea, Valentin, Fox, Paul L.

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America; 7/23/2024, Vol. 121 Issue 30, p1-11, 11p

Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m ⁶ A site accessibility.

Autor: Khan D; Department of Cardiovascular and Metabolic Sciences, Cleveland Clinic, Lerner Research Institute, Cleveland, OH, USA., Ramachandiran I; Department of Cardiovascular and Metabolic Sciences, Cleveland Clinic, Lerner Research Institute, Cleveland, OH, USA., Vasu K; Department of Cardiovascular and Metabolic Sciences, Cleveland Clinic, Lerner Research Institute, Cleveland, OH, USA., China A; Department of Cardiovascular and Metabolic Sciences, Cleveland Clinic, Lerner Research Institute, Cleveland, OH, USA., Khan K; Department of Cardiovascular and Metabolic Sciences, Cleveland Clinic, Lerner Research Institute, Cleveland, OH, USA., Cumbo F; Genomic Medicine Institute, Cleveland Clinic, Lerner Research Institute, Cleveland, OH, USA., Halawani D; Department of Cardiovascular and Metabolic Sciences, Cleveland Clinic, Lerner Research Institute, Cleveland, OH, USA., Terenzi F; Department of Cardiovascular and Metabolic Sciences, Cleveland Clinic, Lerner Research Institute, Cleveland, OH, USA., Zin I; Department of Cardiovascular and Metabolic Sciences, Cleveland Clinic, Lerner Research Institute, Cleveland, OH, USA.; Department of Chemistry, Cleveland State University, Cleveland, OH, USA., Long B; Department of Cardiovascular and Metabolic Sciences, Cleveland Clinic, Lerner Research Institute, Cleveland, OH, USA., Costain G; Department of Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada., Blaser S; Department of Diagnostic Imaging, Division of Neuroradiology, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada., Carnevale A; Department of Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada., Gogonea V; Department of Chemistry, Cleveland State University, Cleveland, OH, USA., Dutta R; Department of Neuroscience, Cleveland Clinic, Lerner Research Institute, Cleveland, OH, USA., Blankenberg D; Genomic Medicine Institute, Cleveland Clinic, Lerner Research Institute, Cleveland, OH, USA., Yoon G; Department of Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada. grace.yoon@utoronto.ca.; Department of Paediatrics, Division of Neurology, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada. grace.yoon@utoronto.ca., Fox PL; Department of Cardiovascular and Metabolic Sciences, Cleveland Clinic, Lerner Research Institute, Cleveland, OH, USA. foxp@ccf.org.

Publikováno v: Nature communications [Nat Commun] 2024 May 20; Vol. 15 (1), pp. 4284. Date of Electronic Publication: 2024 May 20.