文献库，生知库 | 链接生命科学的每一步

Rossella Borghi, Stefania Petrini, Valentina Apollonio, Marina Trivisano, Nicola Specchio, Sandra Moreno, Enrico Bertini, Marco Tartaglia, Claudia Compagnucci

免疫

细胞生物学

癫痫

其它细胞

发表日期：2025

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Current clinical practice versus remote monitoring recommendations for cardiovascular implantable electronic devices: A real-world analysis from a remote monitoring database

当前临床实践与心血管植入式电子设备远程监测建议的对比：基于远程监测数据库的真实世界分析

期刊:Heart Rhythm O2

影响因子:2.9

doi:10.1016/j.hroo.2024.11.024

Bertini, Matteo; D'Onofrio, Antonio; Piacenti, Marcello; Lavalle, Carlo; La Greca, Carmelo; Amellone, Claudia; Compagnucci, Paolo; Calò, Leonardo; Rapacciuolo, Antonio; Santobuono, Vincenzo Ezio; Pepi, Patrizia; Savarese, Gianluca; Taravelli, Erika; Russo, Vincenzo; Vitulano, Gennaro; Villella, Francesco; Vitali, Francesco; Pierucci, Nicola; Campari, Monica; Valsecchi, Sergio; Santini, Luca

发表日期：2025

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Caspase-dependent apoptosis in Riboflavin Transporter Deficiency iPSCs and derived motor neurons

核黄素转运蛋白缺乏症 iPSC 及其衍生运动神经元中的胱天蛋白酶依赖性细胞凋亡

期刊:Cell Death Discovery

影响因子:6.1

doi:10.1038/s41420-024-01812-y

Chiara Marioli, Maurizio Muzzi, Fiorella Colasuonno, Cristian Fiorucci, Nicolò Cicolani, Stefania Petrini, Enrico Bertini, Marco Tartaglia, Claudia Compagnucci, Sandra Moreno

Modeling riboflavin transporter deficiency type 2: from iPSC-derived motoneurons to iPSC-derived astrocytes

核黄素转运蛋白缺乏症 2 型建模：从 iPSC 衍生的运动神经元到 iPSC 衍生的星形胶质细胞

期刊:Frontiers in Cellular Neuroscience

影响因子:4.2

doi:10.3389/fncel.2024.1440555

Valentina Magliocca, Angela Lanciotti, Elena Ambrosini, Lorena Travaglini, Veronica D'Ezio, Valentina D'Oria, Stefania Petrini, Michela Catteruccia, Keith Massey, Marco Tartaglia, Enrico Bertini, Tiziana Persichini #, Claudia Compagnucci #

CRISPR/Cas9 and piggyBac Transposon-Based Conversion of a Pathogenic Biallelic TBCD Variant in a Patient-Derived iPSC Line Allows Correction of PEBAT-Related Endophenotypes

基于 CRISPR/Cas9 和 piggyBac 转座子的致病性双等位基因 TBCD 变异体在患者来源的 iPSC 系中的转化可纠正 PEBAT 相关的内表型

期刊:International Journal of Molecular Sciences

影响因子:0.7

doi:10.3390/ijms24097988

Valentina Muto, Federica Benigni, Valentina Magliocca, Rossella Borghi, Elisabetta Flex, Valentina Pallottini, Alessandro Rosa, Claudia Compagnucci, Marco Tartaglia

信号转导

发表日期：2023

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Altered cytoskeletal arrangement in induced pluripotent stem cells (iPSCs) and motor neurons from patients with riboflavin transporter deficiency

核黄素转运蛋白缺乏症患者的诱导性多能干细胞 (iPSC) 和运动神经元的细胞骨架排列发生改变

期刊:Disease Models & Mechanisms

影响因子:4

doi:10.1242/dmm.046391

Alessia Niceforo, Chiara Marioli, Fiorella Colasuonno, Stefania Petrini, Keith Massey, Marco Tartaglia, Enrico Bertini, Sandra Moreno, Claudia Compagnucci

Dissecting the Role of PCDH19 in Clustering Epilepsy by Exploiting Patient-Specific Models of Neurogenesis

利用患者特异性神经发生模型剖析 PCDH19 在聚集性癫痫中的作用

期刊:Journal of Clinical Medicine

影响因子:3

doi:10.3390/jcm10132754

Rossella Borghi, Valentina Magliocca, Stefania Petrini, Libenzio Adrian Conti, Sandra Moreno, Enrico Bertini, Marco Tartaglia, Claudia Compagnucci

Antioxidant Amelioration of Riboflavin Transporter Deficiency in Motoneurons Derived from Patient-Specific Induced Pluripotent Stem Cells

抗氧化剂改善源自患者特异性诱导性多能干细胞的运动神经元中的核黄素转运蛋白缺陷

期刊:International Journal of Molecular Sciences

影响因子:0.7

doi:10.3390/ijms21197402

Chiara Marioli, Valentina Magliocca, Stefania Petrini, Alessia Niceforo, Rossella Borghi, Sara Petrillo, Piergiorgio La Rosa, Fiorella Colasuonno, Tiziana Persichini, Fiorella Piemonte, Keith Massey, Marco Tartaglia, Sandra Moreno, Enrico Bertini, Claudia Compagnucci

Mitochondrial Abnormalities in Induced Pluripotent Stem Cells-Derived Motor Neurons from Patients with Riboflavin Transporter Deficiency

核黄素转运蛋白缺乏症患者诱导性多能干细胞衍生的运动神经元中的线粒体异常

期刊:Antioxidants

影响因子:

doi:10.3390/antiox9121252

Fiorella Colasuonno, Enrico Bertini, Marco Tartaglia, Claudia Compagnucci, Sandra Moreno

Mitochondrial and Peroxisomal Alterations Contribute to Energy Dysmetabolism in Riboflavin Transporter Deficiency

线粒体和过氧化物酶体的改变导致核黄素转运蛋白缺乏症的能量代谢异常

期刊:Oxidative Medicine and Cellular Longevity

影响因子:

doi:10.1155/2020/6821247

Fiorella Colasuonno, Alessia Niceforo, Chiara Marioli, Anna Fracassi, Fabrizia Stregapede, Keith Massey, Marco Tartaglia, Enrico Bertini, Claudia Compagnucci, Sandra Moreno

代谢

发表日期：2020

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Altered cytoskeleton dynamics in patient-derived iPSC-based model of PCDH19 clustering epilepsy

PCDH19 丛集性癫痫患者 iPSC 模型中的细胞骨架动力学发生改变

Current clinical practice versus remote monitoring recommendations for cardiovascular implantable electronic devices: A real-world analysis from a remote monitoring database

当前临床实践与心血管植入式电子设备远程监测建议的对比：基于远程监测数据库的真实世界分析

Caspase-dependent apoptosis in Riboflavin Transporter Deficiency iPSCs and derived motor neurons

核黄素转运蛋白缺乏症 iPSC 及其衍生运动神经元中的胱天蛋白酶依赖性细胞凋亡

Modeling riboflavin transporter deficiency type 2: from iPSC-derived motoneurons to iPSC-derived astrocytes

核黄素转运蛋白缺乏症 2 型建模：从 iPSC 衍生的运动神经元到 iPSC 衍生的星形胶质细胞

CRISPR/Cas9 and piggyBac Transposon-Based Conversion of a Pathogenic Biallelic TBCD Variant in a Patient-Derived iPSC Line Allows Correction of PEBAT-Related Endophenotypes

基于 CRISPR/Cas9 和 piggyBac 转座子的致病性双等位基因 TBCD 变异体在患者来源的 iPSC 系中的转化可纠正 PEBAT 相关的内表型

Altered cytoskeletal arrangement in induced pluripotent stem cells (iPSCs) and motor neurons from patients with riboflavin transporter deficiency

核黄素转运蛋白缺乏症患者的诱导性多能干细胞 (iPSC) 和运动神经元的细胞骨架排列发生改变

Dissecting the Role of PCDH19 in Clustering Epilepsy by Exploiting Patient-Specific Models of Neurogenesis

利用患者特异性神经发生模型剖析 PCDH19 在聚集性癫痫中的作用

Antioxidant Amelioration of Riboflavin Transporter Deficiency in Motoneurons Derived from Patient-Specific Induced Pluripotent Stem Cells

抗氧化剂改善源自患者特异性诱导性多能干细胞的运动神经元中的核黄素转运蛋白缺陷

Mitochondrial Abnormalities in Induced Pluripotent Stem Cells-Derived Motor Neurons from Patients with Riboflavin Transporter Deficiency

核黄素转运蛋白缺乏症患者诱导性多能干细胞衍生的运动神经元中的线粒体异常

Mitochondrial and Peroxisomal Alterations Contribute to Energy Dysmetabolism in Riboflavin Transporter Deficiency

线粒体和过氧化物酶体的改变导致核黄素转运蛋白缺乏症的能量代谢异常