Heon-Roberts Rachel相关文献与解析，生知库 | 链接生命科学的每一步

日期影响因子

Neuraminidase 1 secondary deficiency contributes to CNS pathology in neurological mucopolysaccharidoses via brain protein hypersialylation

神经氨酸酶 1 继发性缺乏症通过脑蛋白过度唾液酸化作用导致神经系统粘多糖贮积症的中枢神经系统病变。

期刊:Journal of Clinical Investigation

影响因子:13.6

doi:10.1172/JCI177430

Xu, TianMeng; Heon-Roberts, Rachel; Moore, Travis; Dubot, Patricia; Pan, Xuefang; Guo, Tianlin; Cairo, Christopher W; Holley, Rebecca J; Bigger, Brian; Durcan, Thomas M; Levade, Thierry; Ausseil, Jerôme; Amilhon, Bénédicte; Gorelik, Alexei; Nagar, Bhushan; Khan, Shaukat; Tomatsu, Shunji; Sturiale, Luisa; Palmigiano, Angelo; Röckle, Iris; Thiesler, Hauke; Hildebrandt, Herbert; Garozzo, Domenico; Pshezhetsky, Alexey V

发表日期：2025

文献求助收藏

Stabilizing a Native Fold of Alpha-Synuclein with Short Helix-Constrained Peptides

利用短螺旋约束肽稳定α-突触核蛋白的天然折叠

影响因子:8.7

doi:10.1021/jacsau.5c00694

Meade, Richard M; Allen, Scott G; Lopez, Amy J; Williams, Christopher; Thomas-Wright, Iona; Heon-Roberts, Rachel; Carey-Wood, Mara; Tang, T M Simon; Sero, Julia E; Hunt, Vicky L; Wade-Martins, Richard; Crump, Matthew P; Mason, Jody M

发表日期：2025

文献求助收藏

Formation of seeding-competent Î±-synuclein aggregates in parkin-deficient iPSC-derived human neurons.

在缺乏帕金蛋白的iPSC衍生的人类神经元中形成具有播种能力的α-突触核蛋白聚集体

期刊:Npj Parkinsons Disease

影响因子:8.2

doi:10.1038/s41531-025-01038-4

Schmidt Sissel Ida, Okarmus Justyna, Madsen Daniel Aghaie, Hansen Julie Schmidt, Gregersen Emil, Gram Hjalte, Winkelmann Lucas S, Oliveira Anderson Souza, Heon-Roberts Rachel, Ryan Brent J, Freude Kristine, Blaabjerg Morten, Jensen Poul Henning, Meyer Morten

发表日期：2025

文献求助收藏

CRISPRi: a way to integrate iPSC-derived neuronal models

CRISPRi：一种整合iPSC衍生神经元模型的方法

期刊:Biochemical Society Transactions

影响因子:4.3

doi:10.1042/BST20230190

Franks, Sarah N J; Heon-Roberts, Rachel; Ryan, Brent J

发表日期：2024

文献求助收藏

Secondary deficiency of neuraminidase 1 contributes to CNS pathology in neurological mucopolysaccharidoses via hypersialylation of brain glycoproteins

神经氨酸酶 1 的继发性缺乏通过脑糖蛋白的过度唾液酸化，导致神经系统粘多糖贮积症的中枢神经系统病变。

doi:10.1101/2024.04.26.587986

Xu, TianMeng; Heon-Roberts, Rachel; Moore, Travis; Dubot, Patricia; Pan, Xuefang; Guo, Tianlin; Cairo, Christopher W; Holley, Rebecca; Bigger, Brian; Durcan, Thomas M; Levade, Thierry; Ausseil, Jerôme; Amilhon, Bénédicte; Gorelik, Alexei; Nagar, Bhushan; Sturiale, Luisa; Palmigiano, Angelo; Röckle, Iris; Thiesler, Hauke; Hildebrandt, Herbert; Garozzo, Domenico; Pshezhetsky, Alexey V

发表日期：2024

文献求助收藏

Identification of bioactive metabolites in human iPSC-derived dopaminergic neurons with PARK2 mutation: Altered mitochondrial and energy metabolism

PARK2突变的人类iPSC衍生多巴胺能神经元中生物活性代谢物的鉴定：线粒体和能量代谢的改变

期刊:Stem Cell Reports

影响因子:5.1

doi:10.1016/j.stemcr.2021.04.022

Okarmus, Justyna; Havelund, Jesper F; Ryding, Matias; Schmidt, Sissel I; Bogetofte, Helle; Heon-Roberts, Rachel; Wade-Martins, Richard; Cowley, Sally A; Ryan, Brent J; Færgeman, Nils J; Hyttel, Poul; Meyer, Morten

发表日期：2021

文献求助收藏

Molecular Bases of Neurodegeneration and Cognitive Decline, the Major Burden of Sanfilippo Disease

神经退行性变和认知功能下降的分子基础，圣菲利波病的主要负担

期刊:Journal of Clinical Medicine

影响因子:2.9

doi:10.3390/jcm9020344

Heon-Roberts, Rachel; Nguyen, Annie L A; Pshezhetsky, Alexey V

发表日期：2020

文献求助收藏