hiPSC Disease Modeling of Rare Hereditary Cerebellar Ataxias: Opportunities and Future Challenges

Lukovic, D.; Moreno-Manzano, V.; Rodriquez - Jimenez, F.J.; Vilches, A.; Syková, Eva; Jendelová, Pavla; Stojkovic, M.; Erceg, Slaven

doi:https://dx.doi.org/10.1177/1073858416672652

Number of the records: 1

hiPSC Disease Modeling of Rare Hereditary Cerebellar Ataxias: Opportunities and Future Challenges

1.

SYSNO ASEP	0478710
Document Type	J - Journal Article
R&D Document Type	Journal Article
Subsidiary J	Článek ve WOS
Title	hiPSC Disease Modeling of Rare Hereditary Cerebellar Ataxias: Opportunities and Future Challenges
Author(s)	Lukovic, D. (ES) Moreno-Manzano, V. (ES) Rodriquez - Jimenez, F.J. (ES) Vilches, A. (ES) Syková, Eva (UEM-P)_RID Jendelová, Pavla (UEM-P)_{RID, ORCID} Stojkovic, M. (ES) Erceg, Slaven (UEM-P)_{RID, ORCID}
Source Title	Neuroscientist - ISSN 1073-8584 Roč. 23, č. 5 (2017), s. 554-566
Number of pages	13 s.
Language	eng - English
Country	US - United States
Keywords	3D organoids ; ataxia ; disease modelling
Subject RIV	EB - Genetics ; Molecular Biology
OECD category	Developmental biology
R&D Projects	GBP304/12/G069 GA ČR - Czech Science Foundation (CSF)
	LO1309 GA MŠMT - Ministry of Education, Youth and Sports (MEYS)
	ED1.1.00/02.0109 GA MŠMT - Ministry of Education, Youth and Sports (MEYS)
Institutional support	UEM-P - RVO:68378041
UT WOS	000412270000014
EID SCOPUS	85029509414
DOI	10.1177/1073858416672652
Annotation	Cerebellar ataxias are clinically and genetically heterogeneous diseases affecting primary cerebellar cells. The lack of availability of affected tissue from cerebellar ataxias patients is the main obstacle in investigating the pathogenicity of these diseases. The landmark discovery of human-induced pluripotent stem cells (hiPSC) has permitted the derivation of patient-specific cells with an unlimited self-renewing capacity. Additionally, their potential to differentiate into virtually any cell type of the human organism allows for large amounts of affected cells to be generated in culture, converting this hiPSC technology into a revolutionary tool in the study of the mechanisms of disease, drug discovery, and gene correction. In this review, we will summarize the current studies in which hiPSC were utilized to study cerebellar ataxias. Describing the currently available 2D and 3D hiPSC-based cellular models, and due to the fact that extracerebellar cells were used to model these diseases, we will discuss whether or not they represent a faithful cellular model and whether they have contributed to a better understanding of disease mechanisms.
Workplace	Institute of Experimental Medicine
Contact	Lenka Koželská, lenka.kozelska@iem.cas.cz, Tel.: 241 062 218, 296 442 218
Year of Publishing	2018

Number of the records: 1