Secondary lipid accumulation in lysosomal disease.
Secondary lipid accumulation in lysosomal disease.
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DOI：
10.1016/j.bbamcr.2008.11.014
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发表时间：
2009-04
期刊：
影响因子：
--
通讯作者：
Vanier MT
中科院分区：
文献类型：
--
作者：
Walkley SU;Vanier MT
溶酶体疾病是由广泛的溶酶体和少数非溶酶体蛋白质缺陷引起的遗传性代谢紊乱。在大多数情况下，确定了一种单一类型的初级储存物质，用于命名和分类疾病：因此，术语鞘脂病，神经节苷脂病，粘多糖病，糖蛋白病等。然而，除了这种一级储存，还可以鉴定出许多二级储存产物，通常与一级蛋白质缺陷没有直接联系。脂质-鞘糖脂和磷脂，以及胆固醇-是这些二级储存材料中最普遍和最好的研究。虽然在过去通常被认为是这些疾病的非特异性和无关紧要的特征，但较新的研究表明二级储存和疾病发病机制之间存在直接联系，并支持这样的观点，即理解这种隔离过程的各个方面将为溶酶体疾病的细胞生物学和治疗提供重要的见解。
Lysosomal diseases are inherited metabolic disorders caused by defects in a wide spectrum of lysosomal and a few non-lysosomal proteins. In most cases a single type of primary storage material is identified, which has been used to name and classify the disorders: hence the terms sphingolipidoses, gangliosidoses, mucopolysaccharidoses, glycoproteinoses, and so forth. In addition to this primary storage, however, a host of secondary storage products can also be identified, more often than not having no direct link to the primary protein defect. Lipids - glycosphingolipids and phospholipids, as well as cholesterol - are the most ubiquitous and best studied of these secondary storage materials. While in the past typically considered nonspecific and nonconsequential features of these diseases, newer studies suggest direct links between secondary storage and disease pathogenesis and support the view that understanding all aspects of this sequestration process will provide important insights into the cell biology and treatment of lysosomal disease.
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影响因子：
4.7
作者：
CONSTANTOPOULOS, G;DEKABAN, AS
通讯作者：
DEKABAN, AS
DOI：
10.1097/nen.0b013e31812503b6
发表时间：
2007-08-01
影响因子：
3.2
作者：
Crawley, Allison C.;Walkley, Steve U.
通讯作者：
Walkley, Steve U.
DOI：
10.1073/pnas.0712309105
发表时间：
2008-02-26
影响因子：
11.1
作者：
Aerts, Johannes M.;Groener, Johanna E.;Poorthuis, Ben J.
通讯作者：
Poorthuis, Ben J.
影响因子：
11.2
作者：
Ciron, Carine;Desmaris, Nathalie;Heard, Jean-Michel
通讯作者：
Heard, Jean-Michel
影响因子：
5.3
作者：
Cressant, A;Desmaris, N;Heard, JM
通讯作者：
Heard, JM