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

Modelling POLG mutations in mice unravels a critical role of POLγΒ in regulating phenotypic severity.

在小鼠中模拟 POLG 突变揭示了 POLγÎ' 在调节表型严重程度中的关键作用

Corrà Samantha, Zuppardo Alessandro, Valenzuela Sebastian, Jenninger Louise, Cerutti Raffaele, Sillamaa Sirelin, Hoberg Emily, Johansson Katarina A S, Rovsnik Urska, Volta Sara, Silva-Pinheiro Pedro, Davis Hannah, Trifunovic Aleksandra, Minczuk Michal, Gustafsson Claes M, Suomalainen Anu, Zeviani Massimo, Macao Bertil, Zhu Xuefeng, Falkenberg Maria, Viscomi Carlo

Clinically translatable mitochondrial gene therapy in muscle using tandem mtZFN architecture.

利用串联 mtZFN 结构在肌肉中进行临床转化线粒体基因治疗

Nash Pavel A, Turner Keira M, Powell Christopher A, Van Haute Lindsey, Silva-Pinheiro Pedro, Bubeck Felix, Wiedtke Ellen, Marques Eloïse, Ryan Dylan G, Grimm Dirk, Gammage Payam A, Minczuk Michal

Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder.

双等位基因 NSUN3 变异导致多种表型谱疾病:从孤立性视神经萎缩到严重的早发性线粒体疾病

Jurkute Neringa, Brennenstuhl Heiko, Kustermann Monika, Van Haute Lindsey, Mutti Christian D, Bugiardini Enrico, Handa Takayuki, Shimura Masaru, Petzold Axel, Acheson James, Robson Anthony G, Macken William L, Hanna Michael G, Pitceathly Robert D S, Merve Ashirwad, Kotzaeridou Urania, Kölker Stefan, Freilinger Michael, Erdler Marcus, Bittner Reginald E, Mayr Johannes A, Okazaki Yasushi, Murayama Kei, Prokisch Holger, Webster Andrew R, Minczuk Michal, Arno Gavin, Pemp Berthold, Hoffmann Georg F, Schmidt Wolfgang M, Yu-Wai-Man Patrick

Expanding research and care for Leigh syndrome: efforts of a patient-led advocacy organization

扩大对莱氏综合征的研究和治疗:患者主导的倡导组织的努力

Zilber, Sophia; Burnworth, Melinda; Afolabi, Titilola; Brestoff, Jonathan R; Minczuk, Michal; Luis, Alejandro Rodriguez; Ling, Qinglan; Prigione, Alessandro; Tolle, Isabella; Elsharkawi, Ibrahim; Perlstein, Ethan; Boyce, Danielle; Johnson, Simon; Woleben, Kasey

Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease

伴有阵发性肌张力障碍和呼吸暂停的严重新生儿期起病神经退化:扩展CARS2相关线粒体疾病的表型和基因型谱

Poquérusse, Jessie; Nolan, Melinda; Thorburn, David R; Van Hove, Johan L K; Friederich, Marisa W; Love, Donald R; Taylor, Juliet; Powell, Christopher A; Minczuk, Michal; Snell, Russell G; Lehnert, Klaus; Glamuzina, Emma; Jacobsen, Jessie C

Correction to 'DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion'

更正“损害全酶稳定性的DNA聚合酶γ突变导致催化亚基耗竭”

Silva-Pinheiro, Pedro; Pardo-Hernández, Carlos; Reyes, Aurelio; Tilokani, Lisa; Mishra, Anup; Cerutti, Raffaele; Li, Shuaifeng; Rozsivalova, Dieu-Hien; Valenzuela, Sebastian; Dogan, Sukru A; Peter, Bradley; Fernández-Silva, Patricio; Trifunovic, Aleksandra; Prudent, Julien; Minczuk, Michal; Bindoff, Laurence; Macao, Bertil; Zeviani, Massimo; Falkenberg, Maria; Viscomi, Carlo

Elongational stalling activates mitoribosome-associated quality control

延伸停滞激活线粒体核糖体相关质量控制

Desai, Nirupa; Yang, Hanting; Chandrasekaran, Viswanathan; Kazi, Razina; Minczuk, Michal; Ramakrishnan, V

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing

与肥厚型心肌病相关的ELAC2基因突变会损害线粒体tRNA 3'端加工。

Saoura, Makenzie; Powell, Christopher A; Kopajtich, Robert; Alahmad, Ahmad; Al-Balool, Haya H; Albash, Buthaina; Alfadhel, Majid; Alston, Charlotte L; Bertini, Enrico; Bonnen, Penelope E; Bratkovic, Drago; Carrozzo, Rosalba; Donati, Maria A; Di Nottia, Michela; Ghezzi, Daniele; Goldstein, Amy; Haan, Eric; Horvath, Rita; Hughes, Joanne; Invernizzi, Federica; Lamantea, Eleonora; Lucas, Benjamin; Pinnock, Kyla-Gaye; Pujantell, Maria; Rahman, Shamima; Rebelo-Guiomar, Pedro; Santra, Saikat; Verrigni, Daniela; McFarland, Robert; Prokisch, Holger; Taylor, Robert W; Levinger, Louis; Minczuk, Michal

The mammalian mitochondrial epitranscriptome

哺乳动物线粒体表观转录组

Rebelo-Guiomar, Pedro; Powell, Christopher A; Van Haute, Lindsey; Minczuk, Michal

Mitochondrial Genome Engineering: The Revolution May Not Be CRISPR-Ized

线粒体基因组工程:革命或许并非由 CRISPR 技术主导

Gammage, Payam A; Moraes, Carlos T; Minczuk, Michal