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Article

Trisomy for Synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes

17 Apr 2012

Abstract excerpt

Enlarged early endosomes have been observed in neurons and fibroblasts in Down syndrome (DS). These endosome abnormalities have been implicated in the early development of Alzheimer's disease (AD) pathology in these subjects. Here, we show the presence of enlarged endosomes in blood mononuclear cells and lymphoblastoid cell lines (LCLs) from individuals with DS using immunofluorescence and confocal microscopy....

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PMID: 22511594
DOI: 10.1093/hmg/dds142

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