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

Pex1 loss-of-function in zebrafish is viable and recapitulates hallmarks of Zellweger spectrum disorders

斑马鱼中 Pex1 功能缺失突变体仍能存活,并重现了泽尔维格谱系障碍的典型特征。

Heins-Marroquin, Ursula; Hodzic, Zlatan; da Silva, Beatriz Soares Carneiro; Hendriks, Agnes; Gavotto, Floriane; Warmoes, Marc O; Schlicker, Lisa; Omri, Samy; Jäger, Christian; Glaab, Enrico; Braverman, Nancy E; Cordero-Maldonado, Maria Lorena; Linster, Carole L

Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature

利用 ClinGen 临床有效性框架评估与过氧化物酶体疾病相关的基因的证据强度,并更新过氧化物酶体疾病命名法。

Mohan, Shruthi; Mayers, Megan; Weaver, Meredith; Baudet, Heather; De Biase, Irene; Goldstein, Jennifer; Mao, Rong; McGlaughon, Jennifer; Moser, Ann; Pujol, Aurora; Suchy, Sharon; Yuzyuk, Tatiana; Braverman, Nancy E

Structural Characterization and Quantitation of Ether-Linked Glycerophospholipids in Peroxisome Biogenesis Disorder Tissue by Ultraviolet Photodissociation Mass Spectrometry

利用紫外光解离质谱法对过氧化物酶体生物合成障碍组织中醚键甘油磷脂进行结构表征和定量分析

Blevins, Molly S; Shields, Samuel W J; Cui, Wei; Fallatah, Wedad; Moser, Ann B; Braverman, Nancy E; Brodbelt, Jennifer S

Drug discovery for X-linked adrenoleukodystrophy: An unbiased screen for compounds that lower very long-chain fatty acids

X连锁肾上腺脑白质营养不良症的药物发现:一种降低极长链脂肪酸化合物的无偏筛选方法

Moser, Ann B; Liu, Yanqiu; Shi, Xiaohai; Schrifl, Ulrike; Hiebler, Shandi; Fatemi, Ali; Braverman, Nancy E; Steinberg, Steven J; Watkins, Paul A

Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines

Zellweger谱系中的过氧化物酶体生物合成障碍:当前诊断、临床表现和治疗指南概述

Braverman, Nancy E; Raymond, Gerald V; Rizzo, William B; Moser, Ann B; Wilkinson, Mark E; Stone, Edwin M; Steinberg, Steven J; Wangler, Michael F; Rush, Eric T; Hacia, Joseph G; Bose, Mousumi

Ether lipid deficiency does not cause neutropenia or leukopenia in mice and men

醚脂缺乏症不会导致小鼠和人类出现中性粒细胞减少症或白细胞减少症。

Dorninger, Fabian; Wiesinger, Christoph; Braverman, Nancy E; Forss-Petter, Sonja; Berger, Johannes

Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review

妊娠期甲基丙二酸血症(MMA):病例系列及文献综述

Raval, Donna B; Merideth, Melissa; Sloan, Jennifer L; Braverman, Nancy E; Conway, Robert L; Manoli, Irini; Venditti, Charles P

Homeostasis of phospholipids - The level of phosphatidylethanolamine tightly adapts to changes in ethanolamine plasmalogens.

磷脂的稳态——磷脂酰乙醇胺的水平与乙醇胺缩醛磷脂的变化紧密适应

Dorninger Fabian, Brodde Alexander, Braverman Nancy E, Moser Ann B, Just Wilhelm W, Forss-Petter Sonja, Brügger Britta, Berger Johannes

The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder

Pex1-G844D小鼠:一种轻度人类泽尔维格谱系障碍的模型

Hiebler, Shandi; Masuda, Tomohiro; Hacia, Joseph G; Moser, Ann B; Faust, Phyllis L; Liu, Anita; Chowdhury, Nivedita; Huang, Ning; Lauer, Amanda; Bennett, Jean; Watkins, Paul A; Zack, Donald J; Braverman, Nancy E; Raymond, Gerald V; Steinberg, Steven J

Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations

无义抑制疗法可以挽救携带特定PEX基因突变患者细胞中的过氧化物酶体脂质代谢和组装。

Dranchak, Patricia K; Di Pietro, Erminia; Snowden, Ann; Oesch, Nathan; Braverman, Nancy E; Steinberg, Steven J; Hacia, Joseph G