Fumarylacetoacetate Hydrolase Knock-out Rabbit Model for Hereditary Tyrosinemia Type 1

Hereditary tyrosinemia type 1 (HT1) is a severe human autosomal recessive disorder caused by the deficiency of fumarylacetoacetate hydroxylase (FAH), an enzyme catalyzing the last step in the tyrosine degradation pathway. Lack of FAH causes accumulation of toxic metabolites (fumarylacetoacetate and...

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Udgivet i:J Biol Chem
Main Authors: Li, Li, Zhang, Quanjun, Yang, Huaqiang, Zou, Qingjian, Lai, Chengdan, Jiang, Fei, Zhao, Ping, Luo, Zhiwei, Yang, Jiayin, Chen, Qian, Wang, Yan, Newsome, Philip N., Frampton, Jon, Maxwell, Patrick H., Li, Wenjuan, Chen, Shuhan, Wang, Dongye, Siu, Tak-Shing, Tam, Sidney, Tse, Hung-Fat, Qin, Baoming, Bao, Xichen, Esteban, Miguel A., Lai, Liangxue
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Biochemistry and Molecular Biology 2017
Fag:
Molecular Bases of Disease
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5377789/
https://ncbi.nlm.nih.gov/pubmed/28053091
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M116.764787
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