Bardet-Biedl syndrome proteins regulate intracellular signaling and neuronal function in patient-specific iPSC-derived neurons

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder caused by mutations in genes encoding components of the primary cilium and is characterized by hyperphagic obesity. To investigate the molecular basis of obesity in human BBS, we developed a cellular model of BBS using induced plurip...

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Veröffentlicht in:	The Journal of clinical investigation 2021-04, Vol.131 (8)
Hauptverfasser:	Wang, Liheng, Liu, Yang, Stratigopoulos, George, Panigrahi, Sunil, Sui, Lina, Zhang, Yiying, Leduc, Charles A, Glover, Hannah J, De Rosa, Maria Caterina, Burnett, Lisa C, Williams, Damian J, Shang, Linshan, Goland, Robin, Tsang, Stephen H, Wardlaw, Sharon, Egli, Dieter, Zheng, Deyou, Doege, Claudia A, Leibel, Rudolph L
Format:	Artikel
Sprache:	eng
Schlagworte:	Bardet-Biedl syndrome Cellular proteins Complications and side effects Gene mutations Health aspects Obesity Stem cells
Online-Zugang:	Volltext
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