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The MORC2 p.S87L mutation reduces proliferation of pluripotent stem cells derived from a patient with the spinal muscular atrophy-like phenotype by inhibiting proliferation-related signaling pathways

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Neural Regeneration Research 2024年第1期19卷 205-211页

作者： Sen Zeng Honglan Yang Binghao Wang Yongzhi Xie Ke Xu Lei Liu Wanqian Cao Xionghao Liu beisha ta.g Mujun Liu Ruxu Zhang Department of Neurology The Third Xiangya HospitalCentral South UniversityChangshaHunan ProvinceChina Department of Neurology The First Affiliated Hospital of Zhengzhou UniversityZhengzhouHenan ProvinceChina Department of Radiology The Third Xiangya HospitalCentral South UniversityChangshaHunan ProvinceChina Health Management Center The Third Xiangya HospitalCentral South UniversityChangshaHunan ProvinceChina Center for Medical genetics&Hunan Key Laboratory of Medical genetics School of Life SciencesCentral South UniversityChangshaHunan ProvinceChina National Clinical Research Center for geriatric Disorders Central South UniversityChangshaHunan ProvinceChina Department of Cell Biology School of Life SciencesCentral South UniversityChangshaHunan ProvinceChina

Mutations in the microrchidia CW-type zinc finger protein 2(MORC2)gene are the causative agent of Charcot-Marie-Tooth disease type 2Z(CMT2Z),and the hotspot mutation p.S87L is associated with a more seve re spinal muscular atrophy-like clinical *** aims of this study were to determine the mechanism of the severe phenotype caused by the MORC2 p.S87L mutation and to explore potential treatment *** cells were isolated from urine samples from a spinal muscular atrophy(SMA)-like patient[MORC2 p.S87L),a CMT2Z patient[MORC2 p.Q400R),and a healthy control and induced to generate pluripotent stem cells,which were then differentiated into motor neuron precursor ***-generation RNA sequencing followed by KEgg pathway enrichment analysis revealed that differentially expressed genes involved in the PI3K/Akt and MAP K/ERK signaling pathways were enriched in the p.S87L SMA-like patient group and were significantly downregulated in induced pluripotent stem *** proliferation was observed in the induced pluripotent stem cells and motor neuron precursor cells derived from the p.S87L SMA-like patient group compared with the CMT2Z patient group and the healthy control.g0/g1 phase cell cycle arrest was observed in induced pluripotent stem cells derived from the p.S87L SMA-like ***2 p.S87Lspecific antisense oligonucleotides(p.S87L-ASO-ta.geting)showed significant efficacy in improving cell prolife ration and activating the PI3K/Akt and MAP K/ERK pathways in induced pluripotent stem *** r,p.S87L-ASO-ta rgeting did not rescue prolife ration of motor neuron precursor *** findings suggest that downregulation of the PI3K/Akt and MAP K/ERK signaling pathways leading to reduced cell proliferation and g0/g1 phase cell cycle arrest in induced pluripotent stem cells might be the underlying mechanism of the severe p.S87L SMA-like phenotype.p.S87L-ASO-ta.geting treatment can alleviate disordered cell proliferation in the early stag

关键词： antisense oligonucleotides cell cycle arrest Charcot-Marie-Tooth disease 2Z induced pluripotent stem cells MAPK/ERK PI3K/Akt proliferation spinal muscular atrophy-like

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土壤水分胁迫对不同茬次紫花苜蓿丙二醛及抗氧化酶含量的影响

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工业微生物 2023年第5期53卷 172-178页

作者：刘军民潘倍莎中共舟曲县委组织部甘肃甘南746300 甘肃农业大学甘肃兰州730070

为研究土壤水分胁迫对不同茬次紫花苜蓿丙二醛含量及抗氧化酶活性的影响,文章以新疆大叶苜蓿为研究对象,采用盆栽称重法控制土壤含水量(ta为充分供水,85%田间持水量;TB为轻度胁迫,65%田间持水量;TC为重胁迫,45%田间持水量),来研究不同... 详细信息

为研究土壤水分胁迫对不同茬次紫花苜蓿丙二醛含量及抗氧化酶活性的影响,文章以新疆大叶苜蓿为研究对象,采用盆栽称重法控制土壤含水量(ta为充分供水,85%田间持水量;TB为轻度胁迫,65%田间持水量;TC为重胁迫,45%田间持水量),来研究不同土壤水分胁迫对不同茬次过氧化物酶(POD)、超氧物歧化酶(SOD)、过氧化氢酶(CAT)在分枝期、返青期、现蕾期、开花期的活性,同时也研究不同水分胁迫下新疆大叶苜蓿各时期丙二醛(MDA)含量。实验结果表明,随着植物器官生育期的发展和土壤水分胁迫的加剧,MDA含量呈逐渐增长趋势;同时也表明,3种抗氧化酶在分枝期达最大值,且在轻度水分胁迫(TB)下达到最大值,最大值分别为POD=6.5436,SOD=226.3881,CAT=38.1066。该结论为干旱、半干旱地区植物的抗旱机制研究提供了科学依据。

关键词：土壤水分胁迫紫花苜蓿抗氧化酶活性丙二醛

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