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Expression of tyrosine pathway enzymes in mice demonstrates that homogentisate 1,2‐dioxygenase deficiency in the liver is responsible for homogentisic acid‐derived ochronotic pigmentation

Alkaptonuria (AKU) is caused by homogentisate 1,2‐dioxygenase (HGD) deficiency. This study aimed to determine if HGD and other enzymes related to tyrosine metabolism are associated with the location of ochronotic pigment. Liver, kidney, skin, bone, brain, eyes, spleen, intestine, lung, heart, cartil...

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Detalles Bibliográficos
Autores principales: Wilson, Peter J. M., Ranganath, Lakshminarayan R., Bou‐Gharios, George, Gallagher, James A., Hughes, Juliette H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7932868/
https://www.ncbi.nlm.nih.gov/pubmed/33728247
http://dx.doi.org/10.1002/jmd2.12184