Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis

@article{Wang2012MutationsIS,
  title={Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis},
  author={Cheng Wang and Yulei Li and Lei Shi and Jie Ren and Monica Patti and Tao Wang and Jo{\~a}o Ricardo M. Oliveira and Mar{\'i}a-Jes{\'u}s Sobrido and Beatriz Quint{\'a}ns and Miguel Baquero and Xiaoniu Cui and Xiang-yang Zhang and Lin Wang and Haibo Xu and Junhan Wang and Jing Yao and Xiaohua Dai and Juan Liu and Lu Zhang and Hongying Ma and Yong Gao and Xixiang Ma and Shenglei Feng and Mugen Liu and Qing Kenneth Wang and Ian C Forster and Xue Zhang and Jing-yu Liu},
  journal={Nature Genetics},
  year={2012},
  volume={44},
  pages={254-256}
}

• Cheng Wang, Yulei Li, +25 authors Jing-yu Liu
• Published 2012 in Nature Genetics
• DOI:10.1038/ng.1077

Familial idiopathic basal ganglia calcification (IBGC) is a genetic condition with a wide spectrum of neuropsychiatric symptoms, including parkinsonism and dementia. Here, we identified mutations in SLC20A2, encoding the type III sodium-dependent phosphate transporter 2 (PiT2), in IBGC-affected families of varied ancestry, and we observed significantly impaired phosphate transport activity for all assayed PiT2 mutants in Xenopus laevis oocytes. Our results implicate altered phosphate… CONTINUE READING

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