These findings establish TMEM107 and RFX7 as key components of the molecular pathway linking U4atac dysfunction to ciliary defects and impaired brain development, providing new physiopathological insights and therapeutic perspectives for RNU4ATAC-related disorders.
It is revealed that mutations in U4atac affect the splicing of a large set of transcripts involved in innate immunity, hematopoiesis, and intestinal cell functions, including the Drosophila Janus kinase (JAK) homolog hopscotch (hop).
D. Shikara, Eden Bishop, Nathan Barton et al.· Nature Communications· 1 citation
Functional modelling in zebrafish confirms a loss‑of-function mechanism and highlights species‑dependent differences specifically in the impact of the missense variant on protein function, and provides a cautionary tale about overreliance on animal models as a screening tool for variant classification.
H. Shamseldin, Dana Marafi, Mohammed A Al-Muhaizea et al.· Scientific Reports· 0 citations
It is shown that RTTN has an unrecognized function at the core of the translation machinery and is enriched in cycling first-trimester neural progenitors and physically associates with ribosome-biogenesis and RNA-processing factors.
A. Hadar, K. Draganova, V. Iyer et al.· bioRxiv· 0 citations
It is demonstrated that ciliary ARL13B is required to maintain normal ciliary composition and gene expression programs and underscores the value of multi-clone, rescue-based experimental designs for robust transcriptomic analyses.
This study demonstrates the involvement of noncoding variants in the TBX1 enhancer in TOF pathogenesis, highlighting the feasibility of using organoids to decipher the underlying mechanisms of unconserved noncoding regions in developmental malformations.
Jimiao Gao, T. Jiang, Yingyi Quan et al.· Science China Life Sciences· 0 citations
It is demonstrated that expanded DMPK transcript levels modulate free MBNL1 concentration and alternative splicing in a dose-dependent manner, underscoring the central role of repeat RNA expression in DM1 pathogenesis.
Lise Ripken, Thomas D. Hoekman, M. Willemse et al.· Human Molecular Genetics· 0 citations
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