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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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| Publicado no: | JIMD Rep |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley & Sons, Inc.
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7932868/ https://ncbi.nlm.nih.gov/pubmed/33728247 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12184 |
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