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Author

Shunji Tomatsu

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Review Open access Sep 2026

Emerging NPR-B agonists for cartilage and bone: from CNP biology to translational compound design

Disorders affecting cartilage and bone development frequently originate from disrupted endochondral ossification within growth-plate cartilage. Nonetheless, few therapeutic interventions directly target the local signaling pathways governing this process. This review explores the C-type natriuretic peptide (CNP)/natr...

Yasuhiko Ago, A. Karunathilaka, Jacky M. Guerrero-Vargas et al. · 0 citations
Open access Sep 2026

Mice with the mono-allelic p.R37H Dhdds variant show aberrant glycosylation and interneuron deficits

The results define cis-PTase as a master regulator of CNS development and function and establish that its monoallelic debilitating variants cause a novel congenital disorder of glycosylation associated with aberrant levels of neuronal proteins and lipids.

Afitz Da Silva, Merrick S. Fallah, Samuel Boris Tene Tadoum et al. · 0 citations
Open access Aug 2026

Comprehensive characterization and translational implications of the GalnsR384C mouse model of Mucopolysaccharidosis IVA.

GalnsR384C and GalnsR384Y mice recapitulate key biochemical, skeletal, and histopathological features of MPS IVA and provide well-characterized murine models of severe GALNS loss-of-function resulting from clinically relevant missense variants.

Dione A Holder, B. Çelik, Sampurna Saikia et al. · 0 citations

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