Variants in the Niemann-Pick type C gene NPC1 are not associated with Parkinson’s disease

Biallelic variants in NPC1, a gene coding for a lysosomal transmembrane protein involved in cholesterol trafficking, may cause Niemann-Pick disease type C (NPC). A few cases of NPC1 variant carriers with Parkinson’s disease (PD) have been reported. In addition, pathological studies have demonstrated...

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Pubblicato in:Neurobiol Aging
Autori principali: Amar Bencheikh, Bouchra Ouled, Senkevich, Konstantin, Rudakou, Uladzislau, Yu, Eric, Mufti, Kheireddin, Ruskey, Jennifer A., Asayesh, Farnaz, Laurent, Sandra B., Spiegelman, Dan, Fahn, Stanley, Waters, Cheryl, Monchi, Oury, Dauvilliers, Yves, Espay, Alberto J., Dupré, Nicolas, Greenbaum, Lior, Hassin-Baer, Sharon, Rouleau, Guy A., Alcalay, Roy N., Fon, Edward A., Gan-Or, Ziv
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2020
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7302975/
https://ncbi.nlm.nih.gov/pubmed/32371106
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neurobiolaging.2020.03.021
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