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...

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Detalles Bibliográficos
Autores principales: Thorpe, Stephen D., Gambassi, Silvia, Thompson, Clare L., Chandrakumar, Charmilie, Santucci, Annalisa, Knight, Martin M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Original Research Articles
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

Internet

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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