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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Detalhes bibliográficos
Publicado no:Cell Syst
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha: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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