Consequences of a deficit of the tyrosine catabolism pathway: Hereditary tyrosinemia type 1

被引：7

作者：

Bergeron, A ^{[1
]}

Jorquera, R ^{[1
]}

Tanguay, RM ^{[1
]}

机构：

[1] Univ Laval, Fac Med, Dept Med, Lab Genet Cellulaire & Dev, St Foy, PQ G1K 7P4, Canada

来源：

M S-MEDECINE SCIENCES | 2003年 / 19卷 / 10期

关键词：

D O I：

10.1051/medsci/20031910976

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

Hereditary tyrosinemia type 1 (HT1) is the most severe metabolic disease associated with tyrosine catabolism. An accumulation of toxic metabolites seems responsible for the pathology of HT1. The metabolite fumarylacetoacetate, accumulating due to a deficiency in fumarylacetoacetate hydrolase, displays apoptogenic, mutagenic, aneugenic and mitogenic activities. These effects may underlie the tumorigenic phenomenon observed in HT1. Fumarylacetoacetate in addition to causing disturbances in Ca2+ homeostosis, may induce endoplasmic reticulum stress.

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页码：976 / 980

页数：5

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