Article

Regulation of intracellular signaling and neuron function by Bardet-Biedl Syndrome proteins in patient-specific iPSC-derived neurons

2020-10-29

Abstract excerpt

Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive disorder caused by mutations in genes encoding components of the primary cilium and characterized by hyperphagic obesity. We developed a cellular model of BBS using induced pluripotent stem cell (iPSCs)-derived hypothalamic arcuate-like neurons. BBS mutations BBS1 M390R and BBS10 C91fsX95 did not affect neuron differentiation efficiency but caused morphol...

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Literature Corpus work: 970a0df1-47c3-5829-8ef8-3a8db0bc0eee
DOI: 10.1101/2020.10.29.359851

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