학술논문
A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesis
Document Type
article
Author
Source
Nature Communications, Vol 13, Iss 1, Pp 1-14 (2022)
Subject
Language
English
ISSN
2041-1723
Abstract
Mutations in the non-coding RNA RMRP cause primary immunodeficiency. Robertson et al show that a disease-associated mutation in RMRP impairs pre-ribosomal RNA processing and reduces ribosome abundance, establishing this disorder as a ribosomopathy.