Skip to content

Author

S. Miyatake

We have 2 of 278 papers

We haven’t gathered this author’s papers yet. Follow them and we’ll fetch their work.

Not the right person? Other researchers publish under this name.

Aug 2026

An N-terminal CDC42 T43I variant reveals the mechanism of pyrin inflammasome activation.

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. · 4 citations
Aug 2026

Clinical features of four unrelated Japanese patients with autosomal recessive spinocerebellar ataxia type 32.

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. · 0 citations

We use cookies to run the site and, with your consent, for analytics and to show ads. See our Cookie Policy.