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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Veröffentlicht in:Cell Syst
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: 2018
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Article
Online Zugang: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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