文献库，生知库 | 链接生命科学的每一步

日期影响因子

Multicystic Interstitial Lung Disease Due to a Novel Biallelic C-C Chemokine Receptor Type 2 Variant

由新型双等位基因CC趋化因子受体2型变异引起的多囊性间质性肺病

期刊:Pediatric Pulmonology

影响因子:2.7

doi:10.1002/ppul.71135

Moritz Herkner ，Christina Rapp ，Simon Y Graeber ，Charlotte Marx ，Carlotta Rambuscheck ，Simone Reu-Hofer ，Nagehan Emiralioglu ，Nural Kiper ，Alexandru I Gilea ，Ilenia Notaroberto ，Enrico Baruffini ，Bettina Temmesfeld-Wollbrück ，Christoph Klein ，Han Wen ，Mirjam Stahl ，Matthias Griese ，Florian Gothe

特发性肺纤维化

免疫/内分泌

发表日期：2025

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A steric gate prevents mutagenic dATP incorporation opposite 8-oxo-deoxyguanosine in mitochondrial DNA polymerases

空间位阻机制阻止了诱变性dATP掺入线粒体DNA聚合酶中8-氧代脱氧鸟苷的对面。

doi:10.1111/febs.70064

Baruch-Torres, Noe; Trasviña-Arenas, Carlos H; Gilea, Alexandru Ionut; Dissanayake, Upeksha C; Molina-Jiménez, Missael; García-Medel, Paola L; Díaz-Quezada, Corina; Lodi, Tiziana; Cisneros, G Andrés; Baruffini, Enrico; Brieba, Luis G

发表日期：2025

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Zebrafish polg2 knock-out recapitulates human POLG-disorders; implications for drug treatment

斑马鱼 polg2 基因敲除重现人类 POLG 疾病；对药物治疗的意义

期刊:Cell Death & Disease

影响因子:8.1

doi:10.1038/s41419-024-06622-9

Raquel Brañas Casas, Alessandro Zuppardo, Giovanni Risato, Alberto Dinarello, Rudy Celeghin, Camilla Fontana, Eleonora Grelloni, Alexandru Ionut Gilea, Carlo Viscomi, Andrea Rasola, Luisa Dalla Valle, Tiziana Lodi, Enrico Baruffini, Nicola Facchinello, Francesco Argenton, Natascia Tiso

发表日期：2024

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Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene

由OPA1基因新生突变引起的严重线粒体脑肌病

期刊:Frontiers in Genetics

影响因子:2.8

doi:10.3389/fgene.2024.1437959

Di Nottia, Michela; Rizza, Teresa; Baruffini, Enrico; Nesti, Claudia; Torraco, Alessandra; Diodato, Daria; Martinelli, Diego; Dal Canto, Flavio; Gilea, Alexandru Ionut; Zoccola, Martina; Siri, Barbara; Dionisi-Vici, Carlo; Bertini, Enrico; Santorelli, Filippo Maria; Goffrini, Paola; Carrozzo, Rosalba

发表日期：2024

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Modopathies Caused by Mutations in Genes Encoding for Mitochondrial RNA Modifying Enzymes: Molecular Mechanisms and Yeast Disease Models

线粒体RNA修饰酶基因突变引起的线粒体RNA修饰酶病：分子机制和酵母病模型

期刊:International Journal of Molecular Sciences

影响因子:4.9

doi:10.3390/ijms24032178

Magistrati, Martina; Gilea, Alexandru Ionut; Ceccatelli Berti, Camilla; Baruffini, Enrico; Dallabona, Cristina

发表日期：2023

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Drug Drop Test: How to Quickly Identify Potential Therapeutic Compounds for Mitochondrial Diseases Using Yeast Saccharomyces cerevisiae

药物滴定试验：如何使用酿酒酵母快速识别线粒体疾病的潜在治疗化合物

期刊:International Journal of Molecular Sciences

影响因子:0.7

doi:10.3390/ijms241310696

Martina Magistrati, Alexandru Ionut Gilea, Maria Carla Gerra, Enrico Baruffini, Cristina Dallabona

细胞生物学

发表日期：2023

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Saccharomyces cerevisiae as a Tool for Studying Mutations in Nuclear Genes Involved in Diseases Caused by Mitochondrial DNA Instability

酿酒酵母作为研究线粒体DNA不稳定引起的疾病中核基因突变的工具

影响因子:2.8

doi:10.3390/genes12121866

Gilea, Alexandru Ionut; Ceccatelli Berti, Camilla; Magistrati, Martina; di Punzio, Giulia; Goffrini, Paola; Baruffini, Enrico; Dallabona, Cristina

发表日期：2021

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Exploring Yeast as a Study Model of Pantothenate Kinase-Associated Neurodegeneration and for the Identification of Therapeutic Compounds

探索酵母作为泛酸激酶相关神经退行性疾病的研究模型以及用于治疗化合物的鉴定

期刊:International Journal of Molecular Sciences

影响因子:0.7

doi:10.3390/ijms22010293

Camilla Ceccatelli Berti, Alexandru Ionut Gilea, Marco Armando De Gregorio, Paola Goffrini

发表日期：2020

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