Lowe 综合征中的溶酶体定位和 mTOR 活性。
Lysosome positioning and mTOR activity in Lowe syndrome.
机构信息
Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
UK Dementia Research Institute, Cambridge, UK.
出版信息
EMBO Rep. 2021 Jul 5;22(7):e53232. doi: 10.15252/embr.202153232. Epub 2021 May 27.
Abstract
Lowe syndrome is a rare, developmental disorder caused by mutations in the phosphatase, OCRL. A study in this issue of EMBO Reports shows that OCRL is required for microtubule nucleation and that mutations in this protein lead to an inability to activate mTORC1 signaling and consequent cell proliferation in the presence of nutrients. These defects are the result of impaired microtubule-dependent lysosomal trafficking to the cell periphery and are independent of OCRL phosphatase activity.
摘要
Lowe 综合征是一种由磷酸酶 OCRL 突变引起的罕见发育障碍。本期《EMBO 报告》中的一项研究表明，OCRL 是微管成核所必需的，该蛋白的突变导致其无法在有营养物质存在的情况下激活 mTORC1 信号转导和随后的细胞增殖。这些缺陷是由于微管依赖性溶酶体向细胞边缘转运受损所致，与 OCRL 磷酸酶活性无关。
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