Down's Syndrome

Hsia, David Yi‐Yung

doi:10.1001/archpedi.1971.02100130107014

Cited by 30 publications

(2 citation statements)

References 46 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Dysregulated JAK-STAT signaling pathway was then implicated in this neurogenic-to-gliogenic shift in embryonic Ts1Cje mice [13,14]. A higher proportion of cells positive for the immunohistochemical marker for glial cells, glial fibrillary acidic protein (GFAP) was observed when neurospheres from the embryonic neocortex of Ts1Cje mice were allowed to differentiate 15 . The same study reported a decreased rate of proliferation in embryonic NSCs derived from Ts1Cje mice compared to control.…”

Section: Introductionmentioning

confidence: 99%

“…Metabolic studies of DS brain have shown that dysregulated level of metabolites and impaired glucose metabolism in the brain of individuals with DS are correlated with the progression of cognitive dysfunction in DS [ 15 – 18 ]. Recently, perturbed metabolic profiles associated with muscle weakness are reported in the adult Ts1Cje mouse model of Down syndrome [ 19 ].…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Phenotype microarrays reveal metabolic dysregulations of neurospheres derived from embryonic Ts1Cje mouse model of Down syndrome

et al. 2020

View full text Add to dashboard Cite

Down syndrome (DS), is the most common cause of intellectual disability, and is characterized by defective neurogenesis during perinatal development. To identify metabolic aberrations in early neurogenesis, we profiled neurospheres derived from the embryonic brain of Ts1Cje, a mouse model of Down syndrome. High-throughput phenotypic microarray revealed a significant decrease in utilisation of 17 out of 367 substrates and significantly higher utilisation of 6 substrates in the Ts1Cje neurospheres compared to controls. Specifically, Ts1Cje neurospheres were less efficient in the utilisation of glucose-6-phosphate suggesting a dysregulation in the energy-producing pathway. T Cje neurospheres were significantly smaller in diameter than the controls. Subsequent preliminary study on supplementation with 6-phosphogluconic acid, an intermediate of glucose-6-phosphate metabolism, was able to rescue the Ts1Cje neurosphere size. This study confirmed the perturbed pentose phosphate pathway, contributing to defects observed in Ts1Cje neurospheres. We show for the first time that this comprehensive energetic assay platform facilitates the metabolic characterisation of Ts1Cje cells and confirmed their distinguishable metabolic profiles compared to the controls.

show abstract

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%