Heterozygous carboxyl-terminal variants in the RHO guanosine triphosphatase (GTPase) CDC42 are known to cause severe autoinflammatory syndromes. Here, we identified a heterozygous amino-terminal p.T43I (Thr43→Ile) CDC42 variant in patients with autoinflammation and uncovered a molecular link between CDC42 and the infla...
Mariko Aoki, A. Iannuzzo, P. Mertz et al.· Science immunology· 4 citations
Structural assessment using AlphaFold2-based AGO1 models and the AGO2 crystal structure confirmed positional equivalence of the affected residues, supporting the concept of a shared structural vulnerability across Argonaute paralogs and highlighting RNA-regulatory dysfunction as a coherent pathogenic axis.
The relatively high p.Arg207* allele frequency in East Asians and the 0.97% prevalence in the undiagnosed ataxia cohort support SCAR32 as an important cause of early-onset autosomal recessive cerebellar ataxia in Japan.
Hiromi Fukuda, Hiroshi Doi, Shunsuke Ogata et al.· Journal of Human Genetics· 0 citations
It is demonstrated that SLF2 and SMC5 dysfunction drives premature HSC aging, bone marrow failure, and predisposition to MDS, revealing Atelis Syndrome as a previously unrecognized IBMFS.
Sho Shibata, K. Chonabayashi, Hirofumi Nakamura et al.· Leukemia· 1 citation
Results indicate that reduced PREX1-RAC1 signaling leads to mislocalization, dendritic overgrowth, and neuronal hyperexcitability, which may underlie epilepsy in the human case.
