A Christianson syndrome-linked deletion mutation (∆287ES288) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell death

@inproceedings{Ilie2016ACS,
  title={A Christianson syndrome-linked deletion mutation (∆287ES288) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell death},
  author={Alina Ilie and Andy Y L Gao and Jonathan E Reid and Annie Boucher and Cassandra McEwan and Herv{\'e} Barri{\`e}re and Gergely L Lukacs and Rebecca Anne McKinney and John Orlowski},
  booktitle={Molecular Neurodegeneration},
  year={2016}
}
Christianson Syndrome, a recently identified X-linked neurodevelopmental disorder, is caused by mutations in the human gene SLC9A6 encoding the recycling endosomal alkali cation/proton exchanger NHE6. The patients have pronounced limitations in cognitive ability, motor skills and adaptive behaviour. However, the mechanistic basis for this disorder is poorly… CONTINUE READING