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UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy,ptosis, and hypothyroidism
Authors:Chunmei Li  Eliane Beauregard-Lacroix  Christine Kondratev  Justine Rousseau  Ah Jung Heo  Katherine Neas  Brett H. Graham  Jill A. Rosenfeld  Carlos A. Bacino  Matias Wagner  Maren Wenzel  Fuad Al Mutairi  Hamad Al Deiab  Joseph G. Gleeson  Valentina Stanley  Maha S. Zaki  Yong Tae Kwon  Michel R. Leroux  Philippe M. Campeau
Affiliation:1. Department of Molecular Biology and Biochemistry, and Centre for Cell Biology, Development, and Disease Simon Fraser University, Burnaby, BC V5A 1S6, Canada;2. Medical Genetics Division, Department of Pediatrics, Sainte-Justine University Hospital Center, Montreal, QC H3T 1C5, Canada;3. CHU Sainte-Justine Research Center, University of Montreal, Montreal, QC H3T 1C5, Canada;4. Department of Biomedical Sciences, College of Medicine, Seoul National University, Seoul 08826, Republic of Korea;5. Genetic Health Service New Zealand, Wellington South 6242, New Zealand;6. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA;7. Institute of Human Genetics, School of Medicine, Technical University Munich and Institute of Neurogenomics, Helmholtz Zentrum Munchen, Neuherberg 85764, Germany;8. Genetikum Neu-Ulm, Neu-Ulm 89231, Germany;9. King Abdullah International Medical Research Centre, King Saud Bin Abdulaziz University for Health Sciences, and Medical Genetic Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh 11481, Saudi Arabia;10. Rady Children’s Institute for Genomic Medicine, University of California, San Diego, La Jolla, CA 92093, USA;11. Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt;12. Baylor Genetics Laboratory, Houston, TX 77021, USA;13. Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA
Abstract:
Keywords:UBR5  ubr-5  UBR7  ubr-7  epilepsy  ptosis  hypothyroidism  kat6b  Notch  epigenetic
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