2022
DOI: 10.1042/ns20210054
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Cell models for Down syndrome-Alzheimer’s disease research

Abstract: Down syndrome (DS) is the most common chromosomal abnormality and leads to intellectual disability, increased risk of cardiac defects, and an altered immune response. Individuals with DS have an extra full or partial copy of chromosome 21 (trisomy 21) and are more likely to develop early-onset Alzheimer’s disease (AD) than the general population. Changes in expression of human chromosome 21 (Hsa21)-encoded genes, such as APP, play an important role in the pathogenesis of AD in DS (DS-AD). However, the mechanis… Show more

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Cited by 4 publications
(4 citation statements)
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“…Human DS iPSC models have contributed significant knowledge of the pathophysiological mechanisms of DS. The majority of current DS iPSC research has generated cells of the nervous system to decipher mechanisms of intellectual disability underlying DS ( Wu et al, 2022 ).…”
Section: Resource Detailsmentioning
confidence: 99%
“…Human DS iPSC models have contributed significant knowledge of the pathophysiological mechanisms of DS. The majority of current DS iPSC research has generated cells of the nervous system to decipher mechanisms of intellectual disability underlying DS ( Wu et al, 2022 ).…”
Section: Resource Detailsmentioning
confidence: 99%
“…There has been much work on animal models [ 117 , 118 , 119 , 120 ], cellular models, [ 121 , 122 , 123 , 124 , 125 ] and computational/mathematical models [ 126 , 127 , 128 , 129 ] of dementia. However, none of these has captured all of the critical elements involved in the pathogenesis of the dementias and so cannot generate the sought-after answers.…”
Section: Specific Challengesmentioning
confidence: 99%
“…Induced pluripotent stem cell (iPSC) technology has emerged as a valuable tool for studying the cellular and molecular pathologies in specific cell types affected by DS (Wu et al, 2022b). These iPSCs can be derived from somatic cells such as fibroblasts from DS patients or healthy humans (Cypris et al, 2020).…”
Section: Introductionmentioning
confidence: 99%