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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...

詳細記述

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書誌詳細
出版年:Cell Syst
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: 2018
主題:
オンライン・アクセス: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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