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

od Wilson, Peter J. M., Ranganath, Lakshminarayan R., Bou‐Gharios, George, Gallagher, James A., Hughes, Juliette H.
Izdano u JIMD Rep (2020)

Anatomical Distribution of Ochronotic Pigment in Alkaptonuric Mice is Associated with Calcified Cartilage Chondrocytes at Osteochondral Interfaces

od Hughes, Juliette H., Keenan, Craig M., Sutherland, Hazel, Edwards, Henry R., Wilson, Peter J. M., Ranganath, Lakshminarayan R., Jarvis, Jonathan C., Bou-Gharios, George, Gallagher, James A.
Izdano u Calcif Tissue Int (2020)

Dietary restriction of tyrosine and phenylalanine lowers tyrosinemia associated with nitisinone therapy of alkaptonuria

od Hughes, Juliette H., Wilson, Peter J. M., Sutherland, Hazel, Judd, Shirley, Hughes, Andrew T., Milan, Anna M., Jarvis, Jonathan C., Bou‐Gharios, George, Ranganath, Lakshminarayan R., Gallagher, James A.
Izdano u J Inherit Metab Dis (2020)

Conditional targeting in mice reveals that hepatic homogentisate 1,2-dioxygenase activity is essential in reducing circulating homogentisic acid and for effective therapy in the ge...

od Hughes, Juliette H, Liu, Ke, Plagge, Antonius, Wilson, Peter J M, Sutherland, Hazel, Norman, Brendan P, Hughes, Andrew T, Keenan, Craig M, Milan, Anna M, Sakai, Takao, Ranganath, Lakshminarayan R, Gallagher, James A, Bou-Gharios, George
Izdano u Hum Mol Genet (2019)