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

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 be...

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Autori principali: Strømme, Petter, Dobrenis, Kostantin, Sillitoe, Roy V., Gulinello, Maria, Ali, Nafeeza F., Davidson, Cristin, Micsenyi, Matthew C., Stephney, Gloria, Ellevog, Linda, Klungland, Arne, Walkley, Steven U.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2011
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3212719/
https://ncbi.nlm.nih.gov/pubmed/21964919
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awr250
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