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

Use of an oversized AAV8 vector for CPS1 deficiency results in long-term survival and ammonia control.

使用超大的 AAV8 载体治疗 CPS1 缺陷可实现长期存活和氨控制

Diep Taryn, Zhou Wesley, Reyes Rachel E, Nitzahn Matthew, Day Isabel L, Makris Georgios, Lueptow Lindsay, Zhuravka Irina, Bakshi Stuti, Gangoiti Jon, Padaon Hyacinth, Li Yunfeng, Barshop Bruce A, Haberle Johannes, Lipshutz Gerald S

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

CPS1: Looking at an ancient enzyme in a modern light

CPS1:以现代视角审视一种古老的酶

Nitzahn, Matthew; Lipshutz, Gerald S

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

Conditional disruption of hepatic carbamoyl phosphate synthetase 1 in mice results in hyperammonemia without orotic aciduria and can be corrected by liver-directed gene therapy

小鼠肝脏氨甲酰磷酸合成酶1的条件性破坏会导致高氨血症,但不会引起乳清酸尿,这种情况可以通过肝脏靶向基因治疗来纠正。

Suhail Khoja,Matt Nitzahn,Kip Hermann,Brian Truong,Roberta Borzone,Brandon Willis,Mitchell Rudd,Donna J Palmer,Philip Ng,Nicola Brunetti-Pierri,Gerald S Lipshutz

Human hepatocyte transplantation corrects the inherited metabolic liver disorder arginase deficiency in mice

人类肝细胞移植可纠正小鼠的遗传性代谢性肝病——精氨酸酶缺乏症。

Angarita, Stephanie A K; Truong, Brian; Khoja, Suhail; Nitzahn, Matthew; Rajbhandari, Abha K; Zhuravka, Irina; Duarte, Sergio; Lin, Michael G; Lam, Alex K; Cederbaum, Stephen D; Lipshutz, Gerald S