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TranscriptomicsInduced pluripotent stem cell-derived neurons from a sporadic Alzheimer disease donor as a model for investigating disease mechanisms
Gene expression analysis of control fibroblasts (NFH2), one AD-derived fibroblasts (NFH-46), NFH2-derived control-iPS cells (OiPS3, OiPS6), NFH46-derived AD-iPS cells (iPS5 and iPS 26B), hESCs (H1 and H9). Total mRNA obtained from AD fibroblasts (NFH-46) and control fibroblasts (NFH-2), from plurip...
ORGANISM(S): Homo sapiens 
2015-04-21 | E-GEOD-42492 | biostudies-arrayexpress
TranscriptomicsTranscriptome based identification of mouse cumulus cell markers that predict the developmental competence of their enclosed antral oocytes
The cumulus cells (CCs) that envelope antral and ovulated oocytes have been regarded as putative source of non-invasive markers of the oocyte developmental competence and a number of studies have observed a correlation between CCs gene expression, embryo quality and final pregnancy outcome. With the...
ORGANISM(S): Mus musculus 
2013-09-01 | E-GEOD-46906 | biostudies-arrayexpress
TranscriptomicsHuman Induced Pluripotent Stem Cells Harbor Homoplasmic and Heteroplasmic Mitochondrial DNA Mutations While Maintaining human embryonic stem cells-like Metabolic Reprogramming
Gene expression analyis of two hESCs, two human neonatal fibroblasts, and four human iPSCs generated with retroviral transduction using the OSKM cocktail. Total mRNA obtained from two fibroblasts (BJ and HFF1), two hESCs (H1 and H9), two BJ-derived iPSCs (iB4 and iB5), and two HFF1-derived iPSCs (iP...
ORGANISM(S): Homo sapiens 
2011-07-08 | E-GEOD-26575 | biostudies-arrayexpress
ProteomicsEnabling phenotypic drug discovery for neurological mitochondrial DNA disorders with patient-derived neural progenitor cells
Mitochondrial DNA (mtDNA) mutations predominantly cause neurological diseases. Searching for therapeutic strategies is hindered by the absence of viable neural model systems due to the challenges of engineering mtDNA. We demonstrate that neural progenitor cells (NPCs), rapidly obtained from human in...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2017-03-31 | MSV000080849 | MassIVE
ProteomicsEnabling phenotypic drug discovery for neurological mitochondrial DNA disorders with patient-derived neural progenitor cells
Mitochondrial DNA (mtDNA) mutations predominantly cause neurological diseases. Searching for therapeutic strategies is hindered by the absence of viable neural model systems due to the challenges of engineering mtDNA. We demonstrate that neural progenitor cells (NPCs), rapidly obtained from human in...
ORGANISM(S): Homo sapiens (Human) 
2017-01-31 | PXD004977 | Pride
Neural progenitors  npcs  ipscs  mitochondrial disorders  mtdna mutations  mt-atp6 
ProteomicsMutant Huntingtin impairs neurodevelopment in human brain organoids through CHCHD2-mediated neurometabolic failure
Expansion of the poly-glutamine (Q) tract in the protein Huntingtin (HTT) causes the neurodegenerative disorder Huntington’s disease (HD). Emerging evidence suggests that mutant HTT (mHTT) disrupts brain development. To gain mechanistic insights into the neurodevelopmental impact of human mHTT, we e...
ORGANISM(S): Homo sapiens (Human) 
2024-06-21 | PXD041846 | Pride
Huntington’s disease Huntingtin (htt) Brain development 
TranscriptomicsHIF1alpha drives early induction of pluripotency through reprogramming of glycolytic metabolism
Gene expression analyis of two neonatal fibroblasts (BJ and HFF1), one adult dermal fibroblasts (NFH2), two BJ-derived human iPSCs (iB4 and iB5), two HFF1-derived iPSCs (iPS 2 and iPS4), four NFH2-derived iPSCs (OiPS3, OiPS6, OiPS8, OiPS16), one amniotic fluid cells and three derived iPSCs (lines 4,...
ORGANISM(S): Homo sapiens 
2013-10-01 | E-GEOD-37709 | biostudies-arrayexpress
ProteomicsPluripotent stem cell-based screening uncovers sildenafil as a mitochondrial disease therapy
Mitochondrial disease encompasses inherited disorders affecting mitochondrial function. A severe and untreatable form of mitochondrial disease is Leigh syndrome (LS) causing psychomotor regression and metabolic crises. To accelerate drug discovery for LS, we screen a library of 5,632 repurposable co...
ORGANISM(S): Homo sapiens (Human) 
2026-02-09 | PXD059519 | Pride
ProteomicsDefective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome
Leigh syndrome (LS) is a severe manifestation of mitochondrial disease in children and is currently incurable. The lack of effective models hampers our understanding of the mechanisms underlying the neuronal pathology of LS. Using patient-derived induced pluripotent stem cells and CRISPR/Cas9 engine...
ORGANISM(S): Homo sapiens (Human) 
2021-01-29 | PXD019112 | Pride
Mitochondrial disease  leigh syndrome  ipscs  npcs  brain organoids  surf1 
ProteomicsReprogramming-driven drug discovery uncovers sildenafil as a candidate drug for mitochondrial disease.
Mitochondrial disease is a group of rare inherited conditions affecting mitochondrial function. A severe untreatable form of mitochondrial disease is Leigh syndrome (LS) characterized by psychomotor regression and acute metabolic crises. To accelerate drug discovery for mitochondrial disease, we foc...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2025-02-21 | MSV000097182 | MassIVE
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