相关实验视频

Updated: Jul 6, 2025

Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis
08:59

Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis

Published on: July 16, 2021

2.6K

一个新的iPSC模型揭示了神经元在多重硫酶缺乏症中的选择性脆弱性

Vi Pham1, Livia Sertori Finoti2, Margaret M Cassidy1

  • 1The Children's Hospital of Philadelphia, Division of Human Genetics and Metabolism, Colket Translational Research Building, 3501 Civic Center Blvd, Philadelphia, PA 19104, USA; University of Pennsylvania, Perelman School of Medicine, Department of Pediatrics, Philadelphia, PA 19104, USA.

Molecular genetics and metabolism
|December 31, 2023
PubMed
概括

多重硫酶缺乏症 (MSD) 是一种极为罕见的遗传疾病. 研究人员开发了一种人体诱导多能干细胞 (iPSC) 模型,以研究MSD神经病理学和潜在疗法.

关键词:
形成糖氨酸生成酶 (FGE) 是一种形式糖氨酸生成酶.诱导的多能干细胞干细胞溶酶体储存障碍 溶酶体储存障碍多重硫酶缺乏症多重硫酶缺乏症硫酶修饰因子1 (SUMF1)

更多相关视频

Immunohistochemical Visualization of Hippocampal Neuron Activity After Spatial Learning in a Mouse Model of Neurodevelopmental Disorders07:43

Immunohistochemical Visualization of Hippocampal Neuron Activity After Spatial Learning in a Mouse Model of Neurodevelopmental Disorders

Published on: May 12, 2015

11.3K
Isolating Potentiated Hsp104 Variants Using Yeast Proteinopathy Models08:44

Isolating Potentiated Hsp104 Variants Using Yeast Proteinopathy Models

Published on: November 11, 2014

8.2K

相关概念视频

EPS and iPS Cells in Disease Research01:21

EPS and iPS Cells in Disease Research

Embryonic and induced pluripotent stem cells are excellent models for disease research because of their ability to self-renew and differentiate into most cell types. Somatic cells from a patient are isolated and reprogrammed into induced pluripotent stem cells or iPSCs. These iPSCs are later differentiated into the desired cell type, which mirrors the diseased cell of the patient. In this way, disease models have been created for investigating diseases such as Down syndrome, type I diabetes,...
2.8K