TY  - JOUR
AU  - Vershkov, D.
AU  - Benvenisty, N.
PY  - 2017//
TI  - Human pluripotent stem cells in modeling human disorders: the case of fragile X syndrome
T2  - Regen Med
JO  - Regenerative Medicine
SP  - 53
EP  - 68
VL  - 12
IS  - 1
KW  - disease modeling
KW  - drug discovery
KW  - embryonic stem cells
KW  - fragile X syndrome
KW  - human pluripotent stem cells
KW  - neural differentiation
AB  - Human pluripotent stem cells (PSCs) generated from affected blastocysts or from patient-derived somatic cells are an emerging platform for disease modeling and drug discovery. Fragile X syndrome (FXS), the leading cause of inherited intellectual disability, was one of the first disorders modeled in both embryonic stem cells and induced PCSs and can serve as an exemplary case for the utilization of human PSCs in the study of human diseases. Over the past decade, FXS-PSCs have been used to address the fundamental questions regarding the pathophysiology of FXS. In this review we summarize the methodologies for generation of FXS-PSCs, discuss their advantages and disadvantages compared with existing modeling systems and describe their utilization in the study of FXS pathogenesis and in the development of targeted treatment.
SN  - 1746-0751
UR  - http://www.ncbi.nlm.nih.gov/pubmed/27900874
UR  - PM:27900874
N1  - PMID:27900874
ID  - Vershkov+Benvenisty2017
ER  -