Article
Proteomics insights into infantile neuronal ceroid lipofuscinosis (CLN1) point to the involvement of cilia pathology in the disease.
Human molecular genetics - 1 May 2017
Segal-Salto Michal, Hansson Karin, Sapir Tamar, Kaplan Anna, Levy Talia, Schweizer Michaela, Frotscher Michael, James Peter, Reiner Orly
Abstract excerpt
Mutations in the depalmitoylation enzyme, palmitoyl protein thioesterase (PPT1), result in the early onset neurodegenerative disease known as Infantile Neuronal Ceroid Lipofuscinosis. Here, we provide proteomic evidence suggesting that PPT1 deficiency could be considered as a ciliopathy. Analysis of membrane proteins from brain enriched for acylated proteins from neonate Ppt1 knock out and control mice revealed a...
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