Article
A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration.
Neurogenetics - 1 Jul 2015
Damseh Nadirah, Danson Chris M, Al-Ashhab Motee, Abu-Libdeh Bassam, Gallon Matthew, Sharma Kanchan, Yaacov Barak, Coulthard Elizabeth, Caldwell Maeve A, Edvardson Simon, Cullen Peter J, Elpeleg Orly
Abstract excerpt
The composition of the neuronal cell surface dictates synaptic plasticity and thereby cognitive development. This remodeling of the synapses is governed by the endocytic network which internalize transmembrane proteins, then sort them back to the cell surface or carry them to the lysosome for degradation. The multi-protein retromer complex is central to this selection, capturing specific transmembrane proteins...
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