Sort   by:  
 Page size 
TranscriptomicsExpression profiling of skin fibroblast, iPSC, iPSC-derived neural progenitors, and iPSC-derived neurons from Autism Spectrum Disorder male patients and their unaffected normal male siblings
Autism spectrum disorder (ASD) is an early onset neurodevelopmental disorder, which is characterized by disturbances of brain function and behavioral deficits in core areas of impaired reciprocal socialization, impairment in communication skills, and repetitive or restrictive interests and behaviors...
ORGANISM(S): Homo sapiens 
2016-07-01 | E-GEOD-65106 | biostudies-arrayexpress
TranscriptomicsiPSC derived motor neuron cultures from C9ORF72 carriers
Amyotrophic lateral sclerosis (ALS) is a severe neurodegenerative condition characterized by loss of motor neurons in the brain and spinal cord. Expansions of a hexanucleotide repeat (GGGGCC) in the noncoding region of the C9ORF72 gene are the most common cause of the familial form of ALS (C9-ALS), ...
ORGANISM(S): Homo sapiens 
2013-11-07 | E-GEOD-52202 | biostudies-arrayexpress
ProteomicsDIA-based proteomic profiling of iPSC-derived neurons with SEC16A mutation
SEC16A encodes a scaffold protein that organizes the endoplasmic reticulum (ER) exit sites, specialized ER subdomains that mediate export of newly synthesized proteins and regulate early secretory pathway steps. The role of SEC16A in human nervous system diseases has not been established yet. Here, ...
ORGANISM(S): Homo sapiens (Human) 
2026-09-30 | PXD083732 | Pride
Human Patient ipsc-derived neurons 
TranscriptomicsGlobal gene expression profile and splicing events of iPS-derived motorneurons from SMA patient, unaffected father and TGC-treated cells
Spinal Muscular Atrophy (SMA) is an autosomal recessive motor neuron disease and is the second most common genetic disorder leading to death in childhood. Motoneurons derived from induced pluripotent stem cells (iPSC) obtained by reprogramming SMA patient and his healthy father fibroblasts, and gene...
ORGANISM(S): Homo sapiens 
2013-01-04 | E-GEOD-27205 | biostudies-arrayexpress
ProteomicsAnalyzing the ER stress response in ALS patient derived motor neurons identifies druggable neuroprotective targets
Supporting MS data files for paper (doi:10.3389/fncel.2023.1327361) by Watts M.E. et al., titled "Analyzing the ER stress response in ALS patient derived motor neurons identifies druggable neuroprotective targets". See attached pdf for index of MS files uploaded.
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2023-10-25 | MSV000093190 | MassIVE
TranscriptomicsHyper-excitability of Neurons generated from Patients with Bipolar Disorder
Bipolar Disorder (BD) is a complex neuropsychiatric disorder that is characterized by intermittent episodes of mania and depression and, without treatment, 15% of patients commit suicide1. Hence, among all diseases, BD has been ranked by the WHO as a top disorder of morbidity and lost productivity2....
ORGANISM(S): Homo sapiens 
2015-10-30 | E-GEOD-58933 | biostudies-arrayexpress
TranscriptomicsMolecular and functional characterization of FD-iPSC derived neural crest precursor cells
Global gene expression analysis of FD-iPSC and deribved neural crest cells Here we report the derivation of patient specific Familial Dysautonomia-iPSCs and their directed differentiation into multiple cell types capable of modeling the tissue specific splicing defect in vitro. Undifferentiated hES...
ORGANISM(S): Homo sapiens 
2009-08-31 | E-GEOD-17043 | biostudies-arrayexpress
GenomicsPathogenic PPP2R5D variants alters the transcriptome of patient iPSC-derived glutamatergic neurons
Pathogenic PPP2R5D variants alters the transcriptome of patient iPSC-derived glutamatergic neurons
PRJNA1108776 | ENA
ProteomicsProteomic analysis of mitochondria from Huntington's Disease patient iPSC-derived neurons
Huntington's disease is caused by an expanded CAG repeat in the huntingtin gene, yeilding a Huntingtin protein with an expanded polyglutamine tract. Patient-derived induced pluripotent stem cells (iPSCs) can help understand disease; however, defining pathological biomarkers in challanging. Here we u...
ORGANISM(S): Homo sapiens (Human) 
2023-02-10 | PXD037526 | Pride
Lc-ms/ms Huntington's disease Mitochondria Neurodegeneration 
TranscriptomicsTime line RNAseq of iPSC-derived neurons from ASD and control subjects.
To comprehensively profile early neurodevelopmental alterations in individuals with ASD, we harnessed a time series approach to monitor patient-derived induced pluripotent stem cells (iPSCs) throughout the recapitulation of cortical development. This dataset consists of patient derived neurons that ...
ORGANISM(S): Homo sapiens 
2019-01-07 | E-MTAB-6018 | biostudies-arrayexpress
Sort   by:  
 Page size