Lysosomal integral membrane protein-2: a new player in lysosome-related pathology.
Lysosomal integral membrane protein-2: a new player in lysosome-related pathology.
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DOI：
10.1016/j.ymgme.2013.12.005
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发表时间：
2014-02
影响因子：
3.8
通讯作者：
Tayebi, Nahid
中科院分区：
文献类型：
--
作者：
Gonzalez, Ashley;Valeiras, Mark;Sidransky, Ellen;Tayebi, Nahid
关键词：
溶酶体需要许多专门的蛋白质的存在，以促进其在细胞维护中的作用。已被证明是溶酶体领域中的重要参与者的一种这样的蛋白质是由基因SCARB 2编码的溶酶体整合膜蛋白-2（LIMP-2）。LIMP-2是溶酶体和内体的正常生物发生和维持所必需的，并且已被鉴定为葡萄糖脑苷脂酶（戈谢病中缺乏的酶）的特异性受体。对LIMP-2和SCARB 2基因的研究表明，它可能是导致戈谢病患者临床异质性的一个因素。SCARB 2的突变也被确定为肌阵挛肾衰竭（AMRF）的作用原因，在某些情况下，进行性肌阵挛癫痫。迄今为止，共发现了14种致病性SCARB 2突变。LIMP-2在人类病理学中的作用随着其作为心肌中闰盘的组分和作为特异性肠道病毒的受体的鉴定而扩大，这两个出乎意料的发现重申了溶酶体蛋白的无数作用。对LIMP-2缺陷和LIMP 2/葡萄糖脑苷脂酶分子途径的全面影响的研究将导致更好地了解戈谢病和AMRF的疾病发病机制，并对溶酶体加工，运输和功能有新的认识。
Lysosomes require the presence of many specialized proteins to facilitate their roles in cellular maintenance. One such protein that has proven to be an important player in the lysosomal field is lysosomal integral membrane protein-2 (LIMP-2), encoded by the gene SCARB2. LIMP-2 is required for the normal biogenesis and maintenance of lysosomes and endosomes and has been identified as the specific receptor for glucocerebrosidase, the enzyme deficient in Gaucher disease. Research into LIMP-2 and the SCARB2 gene indicate that it may be a factor contributing to the clinical heterogeneity seen among patients with Gaucher disease. Mutations in SCARB2 have also been identified as the cause of action myoclonus renal failure (AMRF), and in some cases progressive myoclonic epilepsy. A total of 14 disease-causing SCARB2 mutations have been identified to date. The role of LIMP-2 in human pathology has expanded with its identification as a component of the intercalated disc in cardiac muscle and as a receptor for specific enteroviruses, two unanticipated findings that reaffirm the myriad roles of lysosomal proteins. Studies into the full impact of LIMP-2 deficiency and the LIMP2/glucocerebrosidase molecular pathway will lead to a better understanding of disease pathogenesis in Gaucher disease and AMRF, and to new insights into lysosomal processing, trafficking and function.
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影响因子：
4.5
作者：
Do CB;Tung JY;Dorfman E;Kiefer AK;Drabant EM;Francke U;Mountain JL;Goldman SM;Tanner CM;Langston JW;Wojcicki A;Eriksson N
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Biegstraaten, M.;van Schaik, I. N.;Hollak, C. E. M.
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影响因子：
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11.2
作者：
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通讯作者：
Schapira, Anthony H. V.
影响因子：
3.5
作者：
Gamp, AC;Tanaka, Y;Saftig, P
通讯作者：
Saftig, P