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
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2017
Materias:
Molecular Bases of Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5377789/
https://www.ncbi.nlm.nih.gov/pubmed/28053091
http://dx.doi.org/10.1074/jbc.M116.764787

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