Modeling Snyder-Robinson Syndrome in multipotent stromal cells reveals impaired mitochondrial function as a potential cause for deficient osteogenesis

Patients with Snyder-Robinson Syndrome (SRS) exhibit deficient Spermine Synthase (SMS) gene expression, which causes neurodevelopmental defects and osteoporosis, often leading to extremely fragile bones. To determine the underlying mechanism for impaired bone formation, we modelled the disease by si...

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Detalles Bibliográficos
Autores principales: Ramsay, Ashley L., Alonso-Garcia, Vivian, Chaboya, Cutter, Radut, Brian, Le, Bryan, Florez, Jose, Schumacher, Cameron, Fierro, Fernando A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6817887/
https://www.ncbi.nlm.nih.gov/pubmed/31659216
http://dx.doi.org/10.1038/s41598-019-51868-5

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