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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...

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Bibliographische Detailangaben
Veröffentlicht in:J Cell Physiol
Hauptverfasser: Thorpe, Stephen D., Gambassi, Silvia, Thompson, Clare L., Chandrakumar, Charmilie, Santucci, Annalisa, Knight, Martin M.
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2017
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5484994/
https://ncbi.nlm.nih.gov/pubmed/28158906
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jcp.25839
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