肌醇5-磷酸酶ocl和INPP5B：细胞功能及其在疾病中的作用

IF 3.9 2区生物学 Q2 BIOCHEMISTRY & MOLECULAR BIOLOGY

Biochimica et biophysica acta. Molecular and cell biology of lipids Pub Date : 2025-07-04 DOI:10.1016/j.bbalip.2025.159660

Aloka de Sa , Gaoyu Li , Connor Byrne , Martin Lowe

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引用次数: 0

摘要

ocl和INPP5B是进化保守的肌醇5-磷酸酶，它们优先水解PI(4,5)P2， PI(4,5)P2是许多细胞过程的关键调节因子。ocl突变导致Lowe综合征和Dent-2疾病，表现在眼睛、大脑和肾脏，而INPP5B突变尚未报道导致疾病。在这里，我们提供了这两种蛋白质的生物学现状，描述了它们的亚细胞位置、相互作用伙伴和它们介导的细胞过程或对它们的功能丧失敏感的细胞过程。ocl和INPP5B在这些特性上有许多相似之处，尽管有一些重要的区别。我们还讨论了Lowe综合征和Dent-2疾病的潜在机制，以及INPP5B在决定最终表型结果中的可能影响。研究ocl和INPP5B所获得的知识提高了对细胞功能的理解，并将为Lowe综合征和Dent-2疾病以及可能的其他疾病的新治疗方法的设计提供信息。

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The inositol 5-phosphatases OCRL and INPP5B: Cellular functions and roles in disease

OCRL and INPP5B are evolutionary conserved inositol 5-phosphatases that preferentially hydrolyse PI(4,5)P₂, a key regulator of numerous cellular processes. Mutation of OCRL causes Lowe syndrome and Dent-2 disease that manifest in the eye, brain and kidney, whereas mutations in INPP5B have not been reported to cause disease. Here, we provide a current view of the biology of both proteins, describing their subcellular locations, interaction partners and cellular processes they mediate or that are sensitive to their loss of function. There are many similarities in these properties between OCRL and INPP5B, albeit with some important differences. We also discuss the mechanisms underlying Lowe syndrome and Dent-2 disease, and the possible influence of INPP5B in dictating final phenotypic outcome. The knowledge gained studying OCRL and INPP5B has improved understanding of how cells function and will inform the design of new treatments for Lowe syndrome and Dent-2 disease and possibly other conditions.

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来源期刊

Biochimica et biophysica acta. Molecular and cell biology of lipids 生物-生化与分子生物学

CiteScore

11.00

自引率

2.10%

发文量

109

审稿时长

53 days

期刊介绍： BBA Molecular and Cell Biology of Lipids publishes papers on original research dealing with novel aspects of molecular genetics related to the lipidome, the biosynthesis of lipids, the role of lipids in cells and whole organisms, the regulation of lipid metabolism and function, and lipidomics in all organisms. Manuscripts should significantly advance the understanding of the molecular mechanisms underlying biological processes in which lipids are involved. Papers detailing novel methodology must report significant biochemical, molecular, or functional insight in the area of lipids.