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Article

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

Cell systems - 28 Mar 2018

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

Abstract excerpt

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 proteomes from their disease-free consanguineous relatives. We use triple-SILAC mass spectrometry to quantify proteomes from...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29397366
DOI: 10.1016/j.cels.2018.01.008
PMCID: PMC5876136

Genes

UCHL1

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