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

Inhibition of the integrated stress response rescues a histidyl-tRNA synthetase variant associated with Charcot-Marie-Tooth disease.

抑制整合应激反应可以挽救与夏科-马里-图斯病相关的组氨酰-tRNA合成酶变体。

Mahmood Maria, Wilhelm Sarah D P, Mendes Marisa I, Smith Desiree E, Kenana Rosan, Hoffman Kyle, Moresco Angelica A, Siu Victoria Mok, Heinemann Ilka U

CRISPR with Transcriptional Readout reveals influenza transcription is modulated by NELF and can precipitate an interferon response.

利用转录读取技术 CRISPR 发现流感病毒转录受 NELF 调控,并可引发干扰素反应

Vicary Alison C, Jordan Sydney N Z, Mendes Marisa, Swaminath Sharmada, Castro Lennice K, Porter Justin S, Vo Kevin D, Russell Alistair B

Dominant-negative NARS1 R534∗ mutation causes wild-type subunit poisoning and heterodimer predominance in cells

显性负性NARS1 R534∗突变导致野生型亚基中毒,并在细胞中形成异二聚体。

Vallee, Ingrid; Shapiro, Ryan; Qi, Leo; Mendes, Marisa I; Smith, Desiree E C; Zhang, Qian; Kanaji, Taisuke; Kuhle, Bernhard; Yang, Xiang-Lei

Loss-of-Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype

一名患有小头畸形、发育迟缓和头发脆弱表型的患者携带CARS1功能缺失变异

Del Greco, Christina; Kuo, Molly E; Smith, Desiree E C; Mendes, Marisa I; Salamons, Gajja S; Nemcovic, Marek; Kodrikova, Rebeka; Sestak, Sergej; Stancheva, Malina; Antonellis, Anthony

Influenza A virus transcription generates capped cRNAs that activate RIG-I

甲型流感病毒转录产生加帽的cRNA,这些cRNA可激活RIG-I。

Elshina, Elizaveta; Pitre, Emmanuelle; Mendes, Marisa; Schweibenz, Brandon; Fan, Rebecca L Y; French, Hollie; Park, Ji Woo; Wang, Wei; Poon, Leo L M; Marcotrigiano, Joseph; Russell, Alistair B; Te Velthuis, Aartjan J W

Use of hydroxyapatite as a support in the immobilization of Thermomyces lanuginosus lipase for application in the production of biodiesel using a by-product as lipid raw material

利用羟基磷灰石作为载体固定嗜热丝孢菌脂肪酶,并将其应用于以副产品为脂质原料生产生物柴油。

Vilas-Bôas, Renata N; Fernandes, Lindoval D; Lucchetti, Leonardo; Cipolatti, Eliane P; Mendes, Marisa F

Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly

作者更正:NARS1 的缺失会损害皮质脑类器官中的祖细胞增殖,并导致小头畸形。

Wang, Lu; Li, Zhen; Sievert, David; Smith, Desirée E C; Mendes, Marisa I; Chen, Dillon Y; Stanley, Valentina; Ghosh, Shereen; Wang, Yulu; Kara, Majdi; Aslanger, Ayca Dilruba; Rosti, Rasim O; Houlden, Henry; Salomons, Gajja S; Gleeson, Joseph G

Treatment of ARS deficiencies with specific amino acids

用特定氨基酸治疗ARS缺乏症

Kok, Gautam; Tseng, Laura; Schene, Imre F; Dijsselhof, Monique E; Salomons, Gajja; Mendes, Marisa I; Smith, Desiree E C; Wiedemann, Arnaud; Canton, Marie; Feillet, François; de Koning, Tom J; Boothe, Megan; Dean, Joy; Kassel, Rachel; Ferreira, Elise A; van den Born, Margreet; Nieuwenhuis, Edward E S; Rehmann, Holger; Terheggen-Lagro, Suzanne W J; van Karnebeek, Clara D M; Fuchs, Sabine A

RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum

RARS1相关髓鞘形成不足性脑白质营养不良:谱系扩展

Mendes, Marisa I; Green, Lydia M C; Bertini, Enrico; Tonduti, Davide; Aiello, Chiara; Smith, Desiree; Salsano, Ettore; Beerepoot, Shanice; Hertecant, Jozef; von Spiczak, Sarah; Livingston, John H; Emrick, Lisa; Fraser, Jamie; Russell, Laura; Bernard, Genevieve; Magri, Stefania; Di Bella, Daniela; Taroni, Franco; Koenig, Mary K; Moroni, Isabella; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rhee, Jullie; Mendelsohn, Bryce A; Helbig, Ingo; Helbig, Katherine; Muhle, Hiltrud; Ismayl, Omar; Vanderver, Adeline L; Salomons, Gajja S; van der Knaap, Marjo S; Wolf, Nicole I

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy.

缬氨酰-tRNA合成酶基因VARS的双等位基因突变与进行性神经发育性癫痫性脑病有关

Friedman Jennifer, Smith Desiree E, Issa Mahmoud Y, Stanley Valentina, Wang Rengang, Mendes Marisa I, Wright Meredith S, Wigby Kristen, Hildreth Amber, Crawford John R, Koehler Alanna E, Chowdhury Shimul, Nahas Shareef, Zhai Liting, Xu Zhiwen, Lo Wing-Sze, James Kiely N, Musaev Damir, Accogli Andrea, Guerrero Kether, Tran Luan T, Omar Tarek E I, Ben-Omran Tawfeg, Dimmock David, Kingsmore Stephen F, Salomons Gajja S, Zaki Maha S, Bernard Geneviève, Gleeson Joseph G