NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter.

@article{Goytain2007NIPA1SPG6TB,
  title={NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter.},
  author={Angela Goytain and Rochelle M Hines and Alaa El Din El-Husseini and Gary A. Quamme},
  journal={The Journal of biological chemistry},
  year={2007},
  volume={282 11},
  pages={8060-8}
}
Mutations in the NIPA1(SPG6) gene, named for "nonimprinted in Prader-Willi/Angelman" has been implicated in one form of autosomal dominant hereditary spastic paraplegia (HSP), a neurodegenerative disorder characterized by progressive lower limb spasticity and weakness. However, the function of NIPA1 is unknown. Here, we show that reduced magnesium concentration enhances expression of NIPA1 suggesting a role in cellular magnesium metabolism. Indeed NIPA1 mediates Mg2+ uptake that is electrogenic… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 38 extracted citations

Similar Papers

Loading similar papers…