日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Model organisms in POLG-related disorders: insights from yeast to multicellular systems

POLG相关疾病的模式生物:从酵母到多细胞系统的启示

Casas, Raquel Brañas; Risato, Giovanni; Zuppardo, Alessandro; Viscomi, Carlo; Argenton, Francesco; Doimo, Mara; Facchinello, Nicola; Tiso, Natascia

Activating AMPK improves pathological phenotypes due to mtDNA depletion.

激活 AMPK 可改善由 mtDNA 耗竭引起的病理表型

Carvalho Gustavo, Nguyen Tran V H, Repolês Bruno, Forslund Josefin M E, Wijethunga W M Ruchitha Rukmal, Ranjbarian Farahnaz, Mendes Isabela C, Gorospe Choco Michael, Chaudhari Namrata, Falabella Micol, Doimo Mara, Wanrooij Sjoerd, Pitceathly Robert D S, Hofer Anders, Wanrooij Paulina H

Psychological Impact of Newborn Screening for 3-Methylcrotonyl-CoA Carboxylase Deficiency: The Parental Experience

新生儿3-甲基巴豆酰辅酶A羧化酶缺乏症筛查的心理影响:父母的经历

Gragnaniello, Vincenza; Gaiga, Giacomo; Cazzorla, Chiara; Porcù, Elena; Gueraldi, Daniela; Puma, Andrea; Loro, Christian; Doimo, Mara; Salviati, Leonardo; Burlina, Alberto B

A Deep Clinical and Biochemical Characterization of a Patient With Combined Malonic and Methylmalonic Aciduria (CMAMMA).

对一名患有丙二酸和甲基丙二酸尿症(CMAMMA)的患者进行深入的临床和生化特征分析。

Gragnaniello Vincenza, Galderisi Alfonso, Tucci Sara, Doimo Mara, Caterino Marianna, Loro Christian, Cazzorla Chiara, Ruoppolo Margherita, Salviati Leonardo, Burlina Alberto B

G4-Ligand-Conjugated Oligonucleotides Mediate Selective Binding and Stabilization of Individual G4 DNA Structures

G4配体偶联寡核苷酸介导对特定G4 DNA结构的选择性结合和稳定作用

Berner, Andreas; Das, Rabindra Nath; Bhuma, Naresh; Golebiewska, Justyna; Abrahamsson, Alva; Andréasson, Måns; Chaudhari, Namrata; Doimo, Mara; Bose, Partha Pratim; Chand, Karam; Strömberg, Roger; Wanrooij, Sjoerd; Chorell, Erik

Enhanced mitochondrial G-quadruplex formation impedes replication fork progression leading to mtDNA loss in human cells

线粒体G-四链体形成增强会阻碍复制叉的延伸,导致人类细胞中线粒体DNA的丢失。

Doimo, Mara; Chaudhari, Namrata; Abrahamsson, Sanna; L'Hôte, Valentin; Nguyen, Tran V H; Berner, Andreas; Ndi, Mama; Abrahamsson, Alva; Das, Rabindra Nath; Aasumets, Koit; Goffart, Steffi; Pohjoismäki, Jaakko L O; López, Marcela Dávila; Chorell, Erik; Wanrooij, Sjoerd

A complementary chemical probe approach towards customized studies of G-quadruplex DNA structures in live cells

一种用于活细胞中G-四链体DNA结构定制研究的互补化学探针方法

Prasad, Bagineni; Doimo, Mara; Andréasson, Måns; L'Hôte, Valentin; Chorell, Erik; Wanrooij, Sjoerd

A unique arginine cluster in PolDIP2 enhances nucleotide binding and DNA synthesis by PrimPol

PolDIP2 中独特的精氨酸簇增强了 PrimPol 的核苷酸结合和 DNA 合成能力。

Kasho, Kazutoshi; Stojkovič, Gorazd; Velázquez-Ruiz, Cristina; Martínez-Jiménez, Maria Isabel; Doimo, Mara; Laurent, Timothée; Berner, Andreas; Pérez-Rivera, Aldo E; Jenninger, Louise; Blanco, Luis; Wanrooij, Sjoerd

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

不仅限于显性遗传,也不仅限于视神经萎缩:OPA1 基因突变相关的临床表现谱系正在扩展

Nasca, Alessia; Rizza, Teresa; Doimo, Mara; Legati, Andrea; Ciolfi, Andrea; Diodato, Daria; Calderan, Cristina; Carrara, Gianfranco; Lamantea, Eleonora; Aiello, Chiara; Di Nottia, Michela; Niceta, Marcello; Lamperti, Costanza; Ardissone, Anna; Bianchi-Marzoli, Stefania; Iarossi, Giancarlo; Bertini, Enrico; Moroni, Isabella; Tartaglia, Marco; Salviati, Leonardo; Carrozzo, Rosalba; Ghezzi, Daniele

Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans

人类鸟氨酸携带者ORNT1和ORNT2以及与人类HHH综合征相关的ORNT1等位基因在酵母中的异源表达

Doimo, Mara; Lopreiato, Raffaele; Basso, Valentina; Bortolotto, Raissa; Tessa, Alessandra; Santorelli, Filippo M; Trevisson, Eva; Salviati, Leonardo