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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Detalles Bibliográficos
Publicado en: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
Formato: Artigo
Idioma:Inglês
Publicado: American Society for Biochemistry and Molecular Biology 2017
Assuntos:
Molecular Bases of Disease
Acceso en liña: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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