Expanding the clinical phenotype of IARS2-related mitochondrial disease

• Autors principals: Barbara Vona (Autor), Reza Maroofian (Autor), Emanuele Bellacchio (Autor), Maryam Najafi (Autor), Kyle Thompson (Autor), Ahmad Alahmad (Autor), Langping He (Autor), Najmeh Ahangari (Autor), Abolfazl Rad (Autor), Sima Shahrokhzadeh (Autor), Paulina Bahena (Autor), Falk Mittag (Autor), Frank Traub (Autor), Jebrail Movaffagh (Autor), Nafise Amiri (Autor), Mohammad Doosti (Autor), Reza Boostani (Autor), Ebrahim Shirzadeh (Autor), Thomas Haaf (Autor), Daria Diodato (Autor), Miriam Schmidts (Autor), Robert W. Taylor (Autor), Ehsan Ghayoor Karimiani (Autor)
• Format: Llibre
• Publicat: BMC, 2018-11-01T00:00:00Z.
• Matèries: article
• Accés en línia: Connect to this object online.

Abstract Background IARS2 encodes a mitochondrial isoleucyl-tRNA synthetase, a highly conserved nuclear-encoded enzyme required for the charging of tRNAs with their cognate amino acid for translation. Recently, pathogenic IARS2 variants have been identified in a number of patients presenting broad c...