Article
Sensory-Neuropathy-Causing Mutations in ATL3 Cause Aberrant ER Membrane Tethering.
Cell reports - 15 May 2018
Krols Michiel, Detry Sammy, Asselbergh Bob, Almeida-Souza Leonardo, Kremer Anna, Lippens Saskia, De Rycke Riet, De Winter Vicky, Müller Franz-Josef, Kurth Ingo, McMahon Harvey T, Savvides Savvas N, Timmerman Vincent, Janssens Sophie
Abstract excerpt
The endoplasmic reticulum (ER) is a complex network of sheets and tubules that is continuously remodeled. The relevance of this membrane dynamics is underscored by the fact that mutations in atlastins (ATLs), the ER fusion proteins in mammals, cause neurodegeneration. How defects in this process disrupt neuronal homeostasis is unclear. Using electron microscopy (EM) volume reconstruction of transfected cells,...
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