Rare Disease Mechanisms Identified by Genealogical Proteomics of Copper Homeostasis Mutant Pedigrees.
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DOI: 10.1016/j.cels.2018.01.008
Abstract: 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… read more here.
Keywords: mechanisms identified; identified genealogical; disease mechanisms; rare disease ... See more keywords