Rare Disease Mechanisms Identified by Genealogical Proteomics of Copper Homeostasis Mutant Pedigrees

Rare neurological diseases shed light onto universal neurobiological processes. However, molecular mechanisms connecting genetic defects to their disease phenotypes are elusive. Here, we obtain mechanistic information by comparing proteomes of cells from individuals with rare disorders with proteome...

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Bibliografski detalji
Izdano u:Cell Syst
Glavni autori: Zlatic, Stephanie A., Vrailas-Mortimer, Alysia, Gokhale, Avanti, Carey, Lucas J., Scott, Elizabeth, Burch, Reid, McCall, Morgan M., Rudin-Rush, Samantha, Davis, John Bowen, Hartwig, Cortnie, Werner, Erica, Li, Lian, Petris, Michael, Faundez, Victor
Format: Artigo
Jezik:Inglês
Izdano: 2018
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5876136/
https://ncbi.nlm.nih.gov/pubmed/29397366
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cels.2018.01.008
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