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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Detalhes bibliográficos
Publicado no:J Cell Physiol
Main Authors: Thorpe, Stephen D., Gambassi, Silvia, Thompson, Clare L., Chandrakumar, Charmilie, Santucci, Annalisa, Knight, Martin M.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2017
Assuntos:
Original Research Articles
Acesso em linha: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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