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

Tracer metabolomics reveals the role of aldose reductase in glycosylation

示踪代谢组学揭示醛糖还原酶在糖基化中的作用

Silvia Radenkovic, Anna N Ligezka, Sneha S Mokashi, Karen Driesen, Lynn Dukes-Rimsky, Graeme Preston, Luckio F Owuocha, Leila Sabbagh, Jehan Mousa, Christina Lam, Andrew Edmondson, Austin Larson, Matthew Schultz, Pieter Vermeersch, David Cassiman, Peter Witters, Lesa J Beamer, Tamas Kozicz, Heather

Developing Targeted Therapies for T Cell Acute Lymphoblastic Leukemia/Lymphoma

开发针对T细胞急性淋巴细胞白血病/淋巴瘤的靶向疗法

DuVall, Adam S; Wesevich, Austin; Larson, Richard A

Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis

FOCAD 的缺失(通过 SKI 信使 RNA 监视通路发挥作用)会导致一种伴有肝硬化的儿童综合征。

Ricardo Moreno Traspas,Tze Shin Teoh,Pui-Mun Wong,Michael Maier,Crystal Y Chia,Kenneth Lay,Nur Ain Ali,Austin Larson,Fuad Al Mutairi,Nouriya Abbas Al-Sannaa,Eissa Ali Faqeih,Majid Alfadhel,Huma Arshad Cheema,Juliette Dupont,Stéphane Bézieau,Bertrand Isidor,Dorrain Yanwen Low,Yulan Wang,Grace Tan,Poh San Lai,Hugues Piloquet,Madeleine Joubert,Hulya Kayserili,Kimberly A Kripps,Shareef A Nahas,Eric P Wartchow,Mikako Warren,Gandham SriLakshmi Bhavani,Majed Dasouki,Renata Sandoval,Elisa Carvalho,Luiza Ramos,Gilda Porta,Bin Wu,Harsha Prasada Lashkari,Badr AlSaleem,Raeda M BaAbbad,Anabela Natália Abreu Ferrão,Vasiliki Karageorgou,Natalia Ordonez-Herrera,Suliman Khan,Peter Bauer,Benjamin Cogne,Aida M Bertoli-Avella,Marie Vincent,Katta Mohan Girisha,Bruno Reversade

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

由于新生 CLCN7 变体对溶酶体酸化的影响而导致的溶酶体储存和白化病

Elena-Raluca Nicoli, Mary R Weston, Mary Hackbarth, Alissa Becerril, Austin Larson, Wadih M Zein, Peter R Baker 2nd, John Douglas Burke, Heidi Dorward, Mariska Davids, Yan Huang, David R Adams, Patricia M Zerfas, Dong Chen, Thomas C Markello, Camilo Toro, Tim Wood, Gene Elliott, Mylinh Vu; Undiagnos

Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood

编码线粒体前序列蛋白酶催化亚基的 PMPCB 突变导致儿童早期神经退行性疾病

F-Nora Vögtle, Björn Brändl, Austin Larson, Manuela Pendziwiat, Marisa W Friederich, Susan M White, Alice Basinger, Cansu Kücükköse, Hiltrud Muhle, Johanna A Jähn, Oliver Keminer, Katherine L Helbig, Carolyn F Delto, Lisa Myketin, Dirk Mossmann, Nils Burger, Noriko Miyake, Audrey Burnett, Andreas va

New insights into the phenotype of FARS2 deficiency

对 FARS2 缺陷表型的新见解

Elise Vantroys, Austin Larson, Marisa Friederich, Kaz Knight, Michael A Swanson, Christopher A Powell, Joél Smet, Sarah Vergult, Boel De Paepe, Sara Seneca, Herbert Roeyers, Björn Menten, Michal Minczuk, Arnaud Vanlander, Johan Van Hove, Rudy Van Coster