Inappropriate stimulation or defective negative regulation of the type I interferon response
can lead to autoinflammation. In genetically uncharacterized cases of the type I …

The nucleolus is the most prominent membraneless condensate in the nucleus. It comprises
hundreds of proteins with distinct roles in the rapid transcription of ribosomal RNA (rRNA) …

Ribosomes are essential nanomachines responsible for all protein production in cells.
Ribosome biogenesis and function are energy costly processes, they are tightly regulated to …

This review comprehensively investigates the intricate interplay between small non-coding
RNAs (sncRNAs) and pancreatic ductal adenocarcinoma (PDAC), a devastating malignancy …

N4-acetylcytidine (ac4C) is an RNA nucleobase found in all domains of life. The
establishment of ac4C in helix 45 (h45) of human 18S ribosomal RNA (rRNA) requires the …

Inherited white matter disorders (IWMDs) are a phenotypically and genotypically
heterogeneous group of disorders affecting the central nervous system (CNS) with or without …

Box C/D small nucleolar RNAs (C/D snoRNAs) represent an ancient family of small non-
coding RNAs that are classically viewed as housekeeping guides for the 2′-O-methylation …

Small nucleolar RNAs (snoRNAs) are non-coding RNAs vital for ribosomal RNA (rRNA)
maturation. The U8 snoRNA, encoded by the SNORD118 gene in humans, is an atypical …

Aicardi-Goutières syndrome (AGS1-9) is a genetically determined encephalopathy that falls
under the type I interferonopathy disease class, characterized by excessive type I interferon …

Biallelic mutations in SNORD118, encoding the small nucleolar RNA U8, cause
leukoencephalopathy with calcifications and cysts (LCC). Given the difficulty in interpreting …