scholarly journals Mitochondrial gene replacement in human pluripotent stem cell-derived neural progenitors

Gene Therapy ◽  
2011 ◽  
Vol 19 (5) ◽  
pp. 469-475 ◽  
Author(s):  
S Iyer ◽  
E Xiao ◽  
K Alsayegh ◽  
N Eroshenko ◽  
M J Riggs ◽  
...  
Keyword(s):  
Stem Cell ◽  
Pluripotent Stem Cell ◽  
Mitochondrial Gene ◽  
Gene Replacement ◽  
Neural Progenitors ◽  
Human Pluripotent Stem Cell

scholarly journals JIP2 haploinsufficiency contributes to neurodevelopmental abnormalities in human pluripotent stem cell-derived neural progenitors and cortical neurons

2017 ◽  
Author(s):  
Reinhard Roessler ◽  
Johanna Goldmann ◽  
Chikdu Shivalila ◽  
Rudolf Jaenisch
Keyword(s):  
Stem Cell ◽  
Cortical Neurons ◽  
Pluripotent Stem Cell ◽  
Autism Spectrum ◽  
Neural Progenitors ◽  
Deletion Syndrome ◽  
Human Pluripotent Stem Cell ◽  
Cellular Mechanisms ◽  
Mature Neurons ◽  
Neurodevelopmental Abnormalities

AbstractPhelan-McDermid syndrome (also known as 22q13 deletion syndrome) is a syndromic form of autism spectrum disorder and currently thought to be caused by heterozygous loss of SHANK3. However, patients most frequently present with large chromosomal deletions affecting several additional genes. We used human pluripotent stem cell technology and genome editing to further dissect molecular and cellular mechanisms. We found that loss of JIP2 (MAPK8IP2) may contribute to a distinct neurodevelopmental phenotype in neural progenitors (NPCs) affecting neuronal maturation. This is most likely due to simultaneous misregulation of JNK proteins, leading to impaired generation of mature neurons. Furthermore, semaphorin signaling is compromised in patient NPCs and neurons. Pharmacological stimulation of neuropilin receptor 1 (NRP1) rescued impaired semaphorin pathway activity and JNK expression in patient neurons. Our results suggest a novel disease-specific mechanism involving the JIP/JNK complex and identify NRP1 as potential therapeutic target.

Regenerative potential of human pluripotent stem cell-derived MSCs in a Gunn rat liver injury model

2015 ◽  
Vol 53 (12) ◽  
Author(s):  
LS Spitzhorn ◽  
M Megges ◽  
C Kordes ◽  
I Sawitza ◽  
S Götze ◽  
...  
Keyword(s):  
Stem Cell ◽  
Liver Injury ◽  
Rat Liver ◽  
Pluripotent Stem Cell ◽  
Human Pluripotent Stem Cell ◽  
Gunn Rat ◽  
Injury Model
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