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| 1 | 遗传性痉挛性截瘫7型临床特征及基因突变特点显示文摘目的:分析并总结遗传性痉挛性截瘫7型(HSP7)患者的临床表现及基因突变特点。方法:收集2例HSP7患者的临床资料,完善头核磁平扫检查,行共济失调量表及认知功能量表评分,提取患者及其直系亲属外周血DNA,全外显子测序进行基因检测,结合一代测序验证突变位点。结果:2例HSP7患者临床表现均有走路不稳,小脑性共济失调、下肢肌张力增高、肌力减退及轻度认知功能减退,头核磁平扫发现轻度小脑萎缩,基因检测发现2例患者痉挛性截瘫7基因(SPG7)存在复合杂合突变,病例1:c.1047dupC(p.Gly349fs),c.1904C>T(p.Ser635Leu);病例2:c.2771delG(p.Met757fs),c.1529C>T(p.Ala510Val),均为已报道致病突变,家系验证证实突变分别来自于患者的父母且存在基因型-表型共分离。结论:HSP7患者临床上可以表现有小脑性共济失调及认知功能减退,本研究的2例HSP7患者经基因检测证实为SPG7基因复合杂合突变所致。 | 张麟伟 矫毓娟 李小璇 汪伟 张伟赫 彭丹涛 | 2019 | 中日友好医院学报2019，33，6： | 2 |
| 2 | 线粒体蛋白质组及蛋白质量控制显示文摘线粒体是哺乳动物细胞内重要细胞器,不仅通过氧化磷酸化产生ATP为细胞提供能量,也参与调节钙离子稳态、活性氧(reactive oxygen species,ROS)的产生、细胞应激反应和细胞死亡等过程,其功能障碍不仅导致多种人类疾病的发生,而且也能降低动物卵母细胞质量和早期胚胎发育能力。大量证据表明,线粒体的功能依赖于线粒体蛋白质组完整性和稳态。基于此,该文综述了线粒体蛋白组、线粒体蛋白转运,聚焦蛋白酶、分子伴侣、线粒体囊泡、线粒体自噬和线粒体未折叠蛋白反应在帮助正确的蛋白质折叠,去除错误折叠或聚集的蛋白质和清除功能失调的线粒体方面的作用,为调控线粒体蛋白质量,从而维持线粒体健康、降低疾病发生提供理论依据。 | 庄天鹏 魏曼丽 贾振伟 | 2021 | 中国细胞生物学学报2021，43，1： | 1 |
| 3 | Structural insights into the membrane microdomain organization by SPFH family proteins显示文摘The lateral segregation of membrane constituents into functional microdomains,conceptually known as lipid raft,is a universal organization principle for cellular membranes in both prokaryotes and eukaryotes.The widespread Stomatin,Prohibitin,Flotillin,and HflK/C(SPFH)family proteins are enriched in functional membrane microdomains at various subcellular locations,and therefore were hypothesized to play a scaffolding role in microdomain formation.In addition,many SPFH proteins are also implicated in highly specific processes occurring on the membrane.However,none of these functions is understood at the molecular level.Here we report the structure of a supramolecular complex that is isolated from bacterial membrane microdomains and contains two SPFH proteins(HflK and HflC)and a membrane-anchored AAA+protease FtsH.HflK and HflC form a circular 24-mer assembly,featuring a laterally segregated membrane microdomain(20 nm in diameter)bordered by transmembrane domains of HflK/C and a completely sealed periplasmic vault.Four FtsH hexamers are embedded inside this microdomain through interactions with the inner surface of the vault.These observations provide a mechanistic explanation for the role of HflK/C and their mitochondrial homologs prohibitins in regulating membrane-bound AAA+proteases,and suggest a general model for the organization and functionalization of membrane microdomains by SPFH proteins. | Chengying Ma Chengkun Wang Dingyi Luo Lu Yan Wenxian Yang Ningning Li Ning Gao | 2022 | Cell Research2022，32，2： | 0 |
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