Article
Loss of vps54 function leads to vesicle traffic impairment, protein mis-sorting and embryonic lethality.
International journal of molecular sciences - 24 May 2013
Karlsson Páll, Droce Aida, Moser Jakob M, Cuhlmann Simon, Padilla Carolina Ortiz, Heimann Peter, Bartsch Jörg W, Füchtbauer Annette, Füchtbauer Ernst-Martin, Schmitt-John Thomas
Abstract excerpt
The identification of the mutation causing the phenotype of the amyotrophic lateral sclerosis (ALS) model mouse, wobbler, has linked motor neuron degeneration with retrograde vesicle traffic. The wobbler mutation affects protein stability of Vps54, a ubiquitously expressed vesicle-tethering factor and leads to partial loss of Vps54 function. Moreover, the Vps54 null mutation causes embryonic lethality, which is...
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