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.· Frontiers in Chemistry· 0 citations
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.· Brain : a journal of neurolo...· 0 citations
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.· Journal of Human Genetics· 0 citations
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