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

O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis

O-GlcNAc糖基化增强CPS1对氨的催化效率并促进尿素生成

Leandro R Soria ,Georgios Makris ,Alfonso M D'Alessio ,Angela De Angelis ,Iolanda Boffa ,Veronica M Pravata ,Véronique Rüfenacht ,Sergio Attanasio ,Edoardo Nusco ,Paola Arena ,Andrew T Ferenbach ,Debora Paris ,Paola Cuomo ,Andrea Motta ,Matthew Nitzahn ,Gerald S Lipshutz ,Ainhoa Martínez-Pizarro ,Eva Richard ,Lourdes R Desviat ,Johannes Häberle ,Daan M F van Aalten ,Nicola Brunetti-Pierri

Intermittent lipid nanoparticle mRNA administration prevents cortical dysmyelination associated with arginase deficiency

间歇性脂质纳米颗粒 mRNA 给药可预防与精氨酸酶缺乏相关的皮质髓鞘形成障碍

Suhail Khoja, Xiao-Bo Liu, Brian Truong, Matthew Nitzahn, Jenna Lambert, Adam Eliav, Eram Nasser, Emma Randolph, Kristine E Burke, Rebecca White, Xuling Zhu, Paolo G V Martini, Itzhak Nissim, Stephen D Cederbaum, Gerald S Lipshutz

Gene therapy for guanidinoacetate methyltransferase deficiency restores cerebral and myocardial creatine while resolving behavioral abnormalities

胍基乙酸甲基转移酶缺乏症的基因治疗可恢复大脑和心肌肌酸,同时解决行为异常

Suhail Khoja, Jenna Lambert, Matthew Nitzahn, Adam Eliav, YuChen Zhang, Mikayla Tamboline, Colleen T Le, Eram Nasser, Yunfeng Li, Puja Patel, Irina Zhuravka, Lindsay M Lueptow, Ilona Tkachyova, Shili Xu, Itzhak Nissim, Andreas Schulze, Gerald S Lipshutz

Split AAV-Mediated Gene Therapy Restores Ureagenesis in a Murine Model of Carbamoyl Phosphate Synthetase 1 Deficiency

裂解 AAV 介导的基因疗法可恢复氨基甲酰磷酸合成酶 1 缺乏症小鼠模型中的尿素生成

Matthew Nitzahn, Gabriella Allegri, Suhail Khoja, Brian Truong, Georgios Makris, Johannes Häberle, Gerald S Lipshutz

Hepatic glutamine synthetase augmentation enhances ammonia detoxification

肝脏谷氨酰胺合成酶增强增强氨解毒

Leandro R Soria, Matthew Nitzahn, Angela De Angelis, Suhail Khoja, Sergio Attanasio, Patrizia Annunziata, Donna J Palmer, Philip Ng, Gerald S Lipshutz, Nicola Brunetti-Pierri

A constitutive knockout of murine carbamoyl phosphate synthetase 1 results in death with marked hyperglutaminemia and hyperammonemia

小鼠氨基甲酰磷酸合成酶 1 的组成性敲除导致死亡,并伴有明显的高谷氨酰胺血症和高氨血症

Suhail Khoja, Matthew Nitzahn, Brian Truong, Jenna Lambert, Brandon Willis, Gabriella Allegri, Véronique Rüfenacht, Johannes Häberle, Gerald S Lipshutz