Impairment of homeostasis in lysosomal storage disorders.
Impairment of homeostasis in lysosomal storage disorders.
复制标题
溶酶体储存障碍中体内平衡的损害。
DOI：
10.1002/iub.1288
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发表时间：
2014
期刊：
影响因子：
4.6
通讯作者：
Segatori,Laura
中科院分区：
文献类型：
--
作者：
Segatori,Laura
溶酶体胆积症（LSD）是由溶酶体蛋白缺乏引起的遗传性代谢疾病，其导致未降解代谢物的积累和溶酶体蛋白稳态的破坏。尽管在LSD细胞发病机制的分子遗传学和生物化学方面取得了重大进展，但将储存物质的积累与这些疾病的发展和进展联系起来的机制仍不清楚。在降解途径的十字路口，溶酶体在维持细胞内稳态中起着重要作用。通过一系列的例子，这篇综述说明了溶酶体的生物合成和功能缺陷如何影响致病级联反应中涉及的一些细胞通路。© 2014 IUBMB Life，66（7）：472-477，2014
Lysosomal storage disorders (LSDs) are inherited metabolic diseases caused by deficiencies in lysosomal proteins, which result in accumulation of undegraded metabolites and disruption of lysosomal proteostasis. Despite significant progress in the molecular genetics and biochemistry underlying the cellular pathogenesis of LSDs, the mechanisms that link accumulation of storage material to development and progression of these diseases are still unclear. At the crossroad of degradative pathways, lysosomes play a fundamental role in the maintenance of cellular homeostasis. Through a series of examples, this review illustrates how defects in lysosomal biogenesis and function impact a number of cellular pathways that are involved in the pathogenic cascade. © 2014 IUBMB Life, 66(7):472–477, 2014