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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Dettagli Bibliografici
Pubblicato in:J Biol Chem
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Biochemistry and Molecular Biology 2017
Soggetti:
Molecular Bases of Disease
Accesso online: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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