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Impaired calcium channel function and pronounced hippocampal atrophy in a schizophrenia patient with cognitive impairment carrying Presenilin-2 Ser130Leu mutation: A case report and literature review.

作者信息

Zhang Ziyi, Lin Hua, Feng Zijuan, Xie Hongsheng, Liu Peng, Shu Yang, Jia Zhiyun, Zhang Shuting

机构信息

Department of Neurology, West China Hospital, Sichuan University, No. 37 Guo Xue Xiang, Chengdu 610041, Sichuan Province, PR China.

Department of Nuclear Medicine, West China Hospital, Sichuan University, No. 37 Guo Xue Xiang, Chengdu 610041, Sichuan Province, PR China.

出版信息

Schizophr Res. 2023 Aug;258:78-80. doi: 10.1016/j.schres.2023.07.024. Epub 2023 Jul 28.

DOI:10.1016/j.schres.2023.07.024
PMID:37517367
Abstract
摘要

相似文献

1
Impaired calcium channel function and pronounced hippocampal atrophy in a schizophrenia patient with cognitive impairment carrying Presenilin-2 Ser130Leu mutation: A case report and literature review.一名携带早老素2基因Ser130Leu突变且伴有认知障碍的精神分裂症患者的钙通道功能受损及明显海马萎缩:病例报告与文献综述
Schizophr Res. 2023 Aug;258:78-80. doi: 10.1016/j.schres.2023.07.024. Epub 2023 Jul 28.
2
A patient with posterior cortical atrophy possesses a novel mutation in the presenilin 1 gene.一位患有后部皮质萎缩的患者携带早老素 1 基因的新型突变。
PLoS One. 2013 Apr 12;8(4):e61074. doi: 10.1371/journal.pone.0061074. Print 2013.
3
Presenilins regulate calcium homeostasis and presynaptic function via ryanodine receptors in hippocampal neurons.早老素通过海马神经元中的 Ryanodine 受体调节钙稳态和突触前功能。
Proc Natl Acad Sci U S A. 2013 Sep 10;110(37):15091-6. doi: 10.1073/pnas.1304171110. Epub 2013 Aug 5.
4
Presenilin-null cells have altered two-pore calcium channel expression and lysosomal calcium: implications for lysosomal function.早老素缺失细胞改变了双孔钙通道表达和溶酶体钙:对溶酶体功能的影响。
Brain Res. 2012 Dec 13;1489:8-16. doi: 10.1016/j.brainres.2012.10.036. Epub 2012 Oct 24.
5
Attenuated presenilin-1 endoproteolysis enhances store-operated calcium currents in neuronal cells.早老素-1内蛋白水解作用减弱会增强神经元细胞中的钙库操纵性钙电流。
J Neurochem. 2016 Mar;136(5):1085-95. doi: 10.1111/jnc.13495. Epub 2016 Jan 11.
6
Presenilin-ryanodine receptor connection.早老素-兰尼碱受体连接
Proc Natl Acad Sci U S A. 2013 Sep 10;110(37):14825-6. doi: 10.1073/pnas.1313996110. Epub 2013 Aug 30.
7
Calorie restriction ameliorates neurodegenerative phenotypes in forebrain-specific presenilin-1 and presenilin-2 double knockout mice.热量限制可改善前脑特异性早老素-1和早老素-2双敲除小鼠的神经退行性表型。
Neurobiol Aging. 2008 Oct;29(10):1502-11. doi: 10.1016/j.neurobiolaging.2007.03.028. Epub 2007 May 17.
8
Lack of evidence for presenilins as endoplasmic reticulum Ca2+ leak channels.缺乏证据表明早老素是内质网 Ca2+泄漏通道。
J Biol Chem. 2012 Mar 30;287(14):10933-44. doi: 10.1074/jbc.M111.300491. Epub 2012 Feb 6.
9
Different Hippocampus Functional Connectivity Patterns in Healthy Young Adults with Mutations of APP/Presenilin-1/2 and APOEε4.具有 APP/Presenilin-1/2 和 APOEε4 突变的健康年轻成年人中海马功能连接模式的差异。
Mol Neurobiol. 2018 Apr;55(4):3439-3450. doi: 10.1007/s12035-017-0540-4. Epub 2017 May 13.
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Alpha7 nicotinic acetylcholine receptor agonist PHA-543613 improves memory deficits in presenilin 1 and presenilin 2 conditional double knockout mice.α7 型烟碱型乙酰胆碱受体激动剂 PHA-543613 改善早老素 1 和早老素 2 条件性双敲除小鼠的记忆缺陷。
Exp Neurol. 2023 Jan;359:114271. doi: 10.1016/j.expneurol.2022.114271. Epub 2022 Nov 10.

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