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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 (ncbitaxon:9606) 
2017-03-31 | MSV000080849 | MassIVE
GenomicsExome Sequencing in Moebius Syndrome
Möbius syndrome (MBS; MIM 157900) is a neurological disorder that is characterized by paralysis of the facial nerves and variable other congenital anomalies. The etiology of this syndrome has been an enigma since the initial description in 1880 by von Graaefe and in 1888 by Möbius, and it has been d...
EGAS00001001250 | EGA
Genomicsena-DATASET-RADBOUDUMC-01-06-2015-11:22:06:411-305 - samples
Exome sequencing in 3 Möbius patients
EGAD00001001385 | EGA
GenomicsExome sequencing in Möbius syndrome
Data Access Committee EGAC00001000322
EGAC00001000322 | EGA
TranscriptomicsRNA-seq of human mesenchymal stem cells inducibly overexpressing human ataxin-1(Q82)
A protein aggregation model of human ataxin-1(Q82) was generated in human mesenchymal cells using the Sleeping Beauty transposon system. These cells inducibly express the pathogenic protein that causes SCA1 disease. Here, we describe the transcriptional changes occurring in cells which contain diffe...
ORGANISM(S): Homo sapiens 
2020-02-18 | E-MTAB-7713 | biostudies-arrayexpress
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