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

The role of saposin C in Gaucher disease

鞘脂激活蛋白C在戈谢病中的作用

Tamargo, Rafael J; Velayati, Arash; Goldin, Ehud; Sidransky, Ellen

Non-iminosugar glucocerebrosidase small molecule chaperones

非亚氨基糖葡糖脑苷脂酶小分子伴侣

Marugan, Juan Jose; Huang, Wenwei; Motabar, Omid; Zheng, Wei; Xiao, Jingbo; Patnaik, Samarjit; Southall, Noel; Westbroek, Wendy; Lea, Wendy A; Simeonov, Anton; Goldin, Ehud; Debernardi, Maria A; Sidransky, Ellen

A mutation in SCARB2 is a modifier in Gaucher disease.

SCARB2基因突变是戈谢病的一种修饰基因

Velayati Arash, DePaolo John, Gupta Nidhi, Choi Jae H, Moaven Nima, Westbroek Wendy, Goker-Alpan Ozlem, Goldin Ehud, Stubblefield Barbara K, Kolodny Edwin, Tayebi Nahid, Sidransky Ellen

Aggregation of α-synuclein in brain samples from subjects with glucocerebrosidase mutations

葡萄糖脑苷脂酶突变患者脑组织样本中α-突触核蛋白的聚集

Choi, Jae Hyuk; Stubblefield, Barbara; Cookson, Mark R; Goldin, Ehud; Velayati, Arash; Tayebi, Nahid; Sidransky, Ellen

Mucolipidosis type IV: an update

IV型黏脂病:最新进展

Wakabayashi, Kazuyo; Gustafson, Ann Marie; Sidransky, Ellen; Goldin, Ehud

Gaucher disease and parkinsonism, a molecular link theory

戈谢病和帕金森病:分子联系理论

Goldin, Ehud

Fabry disease - current treatment and new drug development

法布里病——目前的治疗方法和新药研发

Motabar, Omid; Sidransky, Ellen; Goldin, Ehud; Zheng, Wei

Isolated ocular disease is associated with decreased mucolipin-1 channel conductance

孤立性眼部疾病与粘脂蛋白-1通道电导降低有关。

Goldin, Ehud; Caruso, Rafael C; Benko, William; Kaneski, Christine R; Stahl, Stephanie; Schiffmann, Raphael

Proteomics of specific treatment-related alterations in Fabry disease: a strategy to identify biological abnormalities.

Fabry 病特定治疗相关改变的蛋白质组学:一种识别生物学异常的策略

Moore David F, Krokhin Oleg V, Beavis Ronald C, Ries Markus, Robinson Chevalia, Goldin Ehud, Brady Roscoe O, Wilkins John A, Schiffmann Raphael

Insertion of mutant proteolipid protein results in missorting of myelin proteins

突变蛋白脂蛋白的插入导致髓鞘蛋白分选错误

Vaurs-Barriere, Catherine; Wong, Kondi; Weibel, Thais D; Abu-Asab, Mones; Weiss, Michael D; Kaneski, Christine R; Mixon, Tong-Hui; Bonavita, Simona; Creveaux, Isabelle; Heiss, John D; Tsokos, Maria; Goldin, Ehud; Quarles, Richard H; Boespflug-Tanguy, Odile; Schiffmann, Raphael