脆性 X 综合征中的线粒体功能障碍：堵上漏洞或许能拯救船只。
Mitochondrial Dysfunction in Fragile-X Syndrome: Plugging the Leak May Save the Ship.
机构信息
Department of Neurology, Ann and Robert H. Lurie Children's Hospital, Chicago, IL 60611, USA; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
Department of Medicine, Biochemistry and Molecular Genetics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
出版信息
Mol Cell. 2020 Nov 5;80(3):381-383. doi: 10.1016/j.molcel.2020.10.002.
Recent work by Licznerski et al. suggests that mutant FMRP linked to Fragile-X syndrome elevates the inner mitochondrial membrane proton leak, leading to increased metabolism and changes in protein synthesis that trigger impaired synaptic maturation and autistic behaviors.
利琴斯基等人最近的研究表明，与脆性 X 综合征相关的突变 FMRP 会增加线粒体膜质子泄漏，导致代谢增加和蛋白质合成变化，从而引发突触成熟障碍和自闭症行为。
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