Human-induced pluripotent stem cells for modeling of Niemann-Pick disease type C1

2022 ◽  
pp. 207-218
Author(s):  
M. Paulina Ordonez ◽  
John Steele ◽  
Emma Y. Wu
Keyword(s):  
Stem Cells ◽  
Induced Pluripotent Stem Cells ◽  
Pluripotent Stem Cells ◽  
Disease Type ◽  
Niemann Pick Disease ◽  
Niemann Pick ◽  
Induced Pluripotent ◽  
Pick Disease

Delta-tocopherol facilitates generation of induced pluripotent stem cells from fibroblasts with Niemann-Pick disease type C

2014 ◽  
Vol 111 (2) ◽  
pp. S110
Author(s):  
Mengqiao Wang ◽  
Daozhan Yu ◽  
Manju Swaroop ◽  
Rongze Yang ◽  
John C. McKew ◽  
...  
Keyword(s):  
Stem Cells ◽  
Induced Pluripotent Stem Cells ◽  
Pluripotent Stem Cells ◽  
Disease Type ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Induced Pluripotent ◽  
Pick Disease

Neurons Derived from Induced Pluripotent Stem Cells of Patients with Down Syndrome Reproduce Early Stages of Alzheimer’s Disease Type Pathology in vitro

2017 ◽  
Vol 56 (2) ◽  
pp. 835-847 ◽  
Author(s):  
Erdem B. Dashinimaev ◽  
Alexander S. Artyuhov ◽  
Alexey P. Bolshakov ◽  
Ekaterina A. Vorotelyak ◽  
Andrey V. Vasiliev
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Stem Cells ◽  
Down Syndrome ◽  
Induced Pluripotent Stem Cells ◽  
Pluripotent Stem Cells ◽  
Disease Type ◽  
Early Stages ◽  
Induced Pluripotent

scholarly journals Human iNSC-derived brain organoid model of lysosomal storage disorder in Niemann–Pick disease type C

2020 ◽  
Vol 11 (12) ◽  
Author(s):  
Seung-Eun Lee ◽  
Nari Shin ◽  
Myung Geun Kook ◽  
Dasom Kong ◽  
Nam Gyo Kim ◽  
...  
Keyword(s):  
Stem Cells ◽  
Lysosomal Storage Disorder ◽  
Disease Type ◽  
Lysosomal Storage ◽  
Niemann Pick Disease ◽  
Type C ◽  
Storage Disorder ◽  
Niemann Pick ◽  
Pick Disease

AbstractRecent studies on developing three-dimensional (3D) brain organoids from stem cells have allowed the generation of in vitro models of neural disease and have enabled the screening of drugs because these organoids mimic the complexity of neural tissue. Niemann-Pick disease, type C (NPC) is a neurodegenerative lysosomal storage disorder caused by mutations in the NPC1 or NPC2. The pathological features underlying NPC are characterized by the abnormal accumulation of cholesterol in acidic compartments, including late endosomes and lysosomes. Due to the inaccessibility of brain tissues from human NPC patients, we developed NPC brain organoids with induced neural stem cells from NPC patient-derived fibroblasts. NPC organoids exhibit significantly reduced size and proliferative ability, which are accompanied by accumulation of cholesterol, impairment in neuronal differentiation, and autophagic flux and dysfunction of lysosomes; therefore, NPC organoids can recapitulate the main phenotypes of NPC patients. Furthermore, these pathological phenotypes observed in NPC organoids were reversed by treatment with valproic acid and HPBCD, which are known to be an effective treatment for several neurodegenerative diseases. Our data present patient-specific phenotypes in 3D organoid-based models of NPC and highlight the application of this model to drug screening in vitro.

scholarly journals Niemann-Pick type C1 patient-specific induced pluripotent stem cells display disease specific hallmarks

2013 ◽  
Vol 8 (1) ◽  
pp. 144 ◽  
Author(s):  
Michaela Trilck ◽  
Rayk Hübner ◽  
Philip Seibler ◽  
Christine Klein ◽  
Arndt Rolfs ◽  
...  
Keyword(s):  
Stem Cells ◽  
Induced Pluripotent Stem Cells ◽  
Pluripotent Stem Cells ◽  
Patient Specific ◽  
Niemann Pick ◽  
Induced Pluripotent ◽  
Disease Specific
Sign in / Sign up

Export Citation Format

Share Document