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Reduced primary cilia length and altered Arl13b expression are associated with deregulated chondrocyte Hedgehog signaling in alkaptonuria
Alkaptonuria (AKU) is a rare inherited disease resulting from a deficiency of the enzyme homogentisate 1,2‐dioxygenase which leads to the accumulation of homogentisic acid (HGA). AKU is characterized by severe cartilage degeneration, similar to that observed in osteoarthritis. Previous studies sugge...
Autores principales: | Thorpe, Stephen D., Gambassi, Silvia, Thompson, Clare L., Chandrakumar, Charmilie, Santucci, Annalisa, Knight, Martin M. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5484994/ https://www.ncbi.nlm.nih.gov/pubmed/28158906 http://dx.doi.org/10.1002/jcp.25839 |
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