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

The modifying effect of mutant LRRK2 on mutant GBA1-associated Parkinson disease.

突变型 LRRK2 对突变型 GBA1 相关帕金森病的影响

Serebryany-Piavsky Vera, Egulsky Lian, Manoim-Wolkovitz Julia Elia, Anis Saar, Hassin-Baer Sharon, Parnas Moshe, Horowitz Mia

Functional Analysis of Human GBA1 Missense Mutations in Drosophila: Insights into Gaucher Disease Pathogenesis and Phenotypic Consequences

果蝇中人类GBA1错义突变的功能分析:对戈谢病发病机制和表型后果的深入研究

Kuppuramalingam, Aparna; Cabasso, Or; Horowitz, Mia

GBA1-Associated Parkinson's Disease Is a Distinct Entity

GBA1相关性帕金森病是一种独立的疾病实体

Skrahin, Aliaksandr; Horowitz, Mia; Istaiti, Majdolen; Skrahina, Volha; Lukas, Jan; Yahalom, Gilad; Cohen, Mikhal E; Revel-Vilk, Shoshana; Goker-Alpan, Ozlem; Becker-Cohen, Michal; Hassin-Baer, Sharon; Svenningsson, Per; Rolfs, Arndt; Zimran, Ari

Animal Models for the Study of Gaucher Disease

用于研究戈谢病的动物模型

Cabasso, Or; Kuppuramalingam, Aparna; Lelieveld, Lindsey; Van der Lienden, Martijn; Boot, Rolf; Aerts, Johannes M; Horowitz, Mia

The Uncovered Function of the Drosophila GBA1a-Encoded Protein

果蝇GBA1a编码蛋白的未揭示功能

Cabasso, Or; Paul, Sumit; Maor, Gali; Pasmanik-Chor, Metsada; Kallemeijn, Wouter; Aerts, Johannes; Horowitz, Mia

EHD1 regulates cholesterol homeostasis and lipid droplet storage.

EHD1 调节胆固醇稳态和脂滴储存

Naslavsky Naava, Rahajeng Juliati, Rapaport Debora, Horowitz Mia, Caplan Steve

The exon 8-containing prosaposin gene splice variant is dispensable for mouse development, lysosomal function, and secretion

含有外显子8的prosaposin基因剪接变体对小鼠发育、溶酶体功能和分泌并非必需。

Cohen, Tsadok; Auerbach, Wojtek; Ravid, Liat; Bodennec, Jacques; Fein, Amos; Futerman, Anthony H; Joyner, Alexandra L; Horowitz, Mia