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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 
TranscriptomicsChromosomal Instability and Molecular Defects in Induced Pluripotent Stem Cells with Nijmegen Breakage Syndrome
Nijmegen breakage syndrome (NBS) results from the absence of the NBS1 protein, responsible for detection of DNA double-strand breaks (DSBs). NBS is characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. Here we show successful reprogramming of NBS fibroblasts...
ORGANISM(S): Homo sapiens 
2016-07-19 | E-GEOD-83686 | 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
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