Neurological Dysfunction in Early Maturity of a Model for Niemann–Pick C1 Carrier Status

Autosomal recessive inheritance of NPC1 with loss-of-function mutations underlies Niemann–Pick disease, type C1 (NP-C1), a lysosomal storage disorder with progressive neurodegeneration. It is uncertain from limited biochemical studies and patient case reports whether NPC1 haploinsufficiency can caus...

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Detalhes bibliográficos
Publicado no:Neurotherapeutics
Main Authors: Hung, Ya Hui, Walterfang, Mark, Churilov, Leonid, Bray, Lisa, Jacobson, Laura H., Barnham, Kevin J., Jones, Nigel C., O’Brien, Terence J., Velakoulis, Dennis, Bush, Ashley I.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer US 2016
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4965399/
https://ncbi.nlm.nih.gov/pubmed/26942423
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13311-016-0427-5
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