Article
Biallelic BRF2 mutations disrupt redox homeostasis as etiological factors in syndromic immunodeficiency and developmental disorders.
Molecular therapy : the journal of the American Society of Gene Therapy - 5 Nov 2025
Yoon Seobin, Lee Seungbok, Kwon Haeyoon, Kim Hyo-Seung, Joo Jeong H, Hong Soogil, Kim Soo Yeon, Jang Sesong, Lee Hyunju, Choi Hyoung Soo, Cho Anna, Jeong Soyoung, Suh-Yun Joh Christine, Oh Hyeonseo, Choi Eui-Hwan, Choi Murim, Ahn Kangmo, Kim Hyun Je, Kim Keun Pil, Chae Jong-Hee
Abstract excerpt
TFIIB-related factor 2 (BRF2) is a critical component in the recruitment of RNA polymerase III (RNA Pol III) to type III promoters containing a TATA box. These promoters regulate the expression of key elements such as U6 spliceosomal RNA, the tRNA processing enzyme RNase P, and selenocysteine tRNA. Despite the essential role of BRF2, the genetic disorders associated with BRF2 mutations and their molecular...
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