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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Foilsithe in: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
Formáid: Artigo
Teanga:Inglês
Foilsithe: American Society for Biochemistry and Molecular Biology 2017
Ábhair:
Molecular Bases of Disease
Rochtain Ar Líne: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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