Abstracts tagged "Gene Expression and therapeutic targeting"

Abstract Number: 2037 • 2016 ACR/ARHP Annual Meeting
Proteostasis Dysregulation and Autoinflammation in Patients with TRNT1 Deficiency
Angeliki Giannelou¹, Qing Zhou², Hongying Wang³, Abu-Asab Mones⁴, Hong-Wei Sun⁵, Deborah L. Stone⁶, Amanda K. Ombrello⁷, Wanxia L. Tsai⁸, Stephen Brooks⁹, Jehad H. Edwan⁵, Kimberly Risma¹⁰, Lucie Sramkova¹¹, Abdullah Al Sonbul¹², Sarita Joshi¹³, Helen C. Su¹⁴, Karyl Barron¹⁴, Massimo G. Gadina¹⁵, Gustavo Gutierrez-Cruz⁵, Markus Hafner⁵, Ivona Aksentijevich¹⁶ and Daniel L. Kastner¹⁶, ¹National Human Genome Research Institute, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ²National Human Genome Research Institute, National Institutes of Health, Inflammatory Disease Branch, Bethesda, MD, ³National Human Genome Research Institute, Bethesda, MD, ⁴National Eye Institute, National Institutes of Health, Bethesda, MD, ⁵National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ⁶Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ⁷Inflammatory Disease Section, NHGRI, National Institutes of Health, Bethesda, MD, ⁸National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD, ⁹NIAMS/NIH, Bethesda, MD, ¹⁰Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ¹¹Charles University 2nd Faculty of Medicine and UH Motol, Prague, Czech Republic, ¹²King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia, ¹³Nationwide Children's Hospital, Columbus, OH, ¹⁴National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, ¹⁵Translational Immunology Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ¹⁶National Human Genome Research Institute, National Institutes of Health, Inflammatory Disease Section, Bethesda, MD
Background/Purpose: Hypomorphic mutations in the TRNT1gene result in a syndrome of sideroblastic anemia, immunodeficiency, periodic fevers and developmental delay (SIFD). The TRNT1 enzyme is essential…

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