X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal–lysosomal dysfunction

@inproceedings{Strmme2011XlinkedAS,
  title={X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal–lysosomal dysfunction},
  author={Petter Str\omme and Kostantin Dobrenis and Roy V Sillitoe and Maria Gulinello and Nafeeza F. Ali and Cristin D. Davidson and Matthew C. Micsenyi and Gloria W Stephney and Linda Ellevog and Arne Klungland and Steven U Walkley},
  booktitle={Brain : a journal of neurology},
  year={2011}
}
Mutations in solute carrier family 9 isoform 6 on chromosome Xq26.3 encoding sodium-hydrogen exchanger 6, a protein mainly expressed in early and recycling endosomes are known to cause a complex and slowly progressive degenerative human neurological disease. Three resulting phenotypes have so far been reported: an X-linked Angelman syndrome-like condition, Christianson syndrome and corticobasal degeneration with tau deposition, with each characterized by severe intellectual disability, epilepsy… CONTINUE READING
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