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Comparative Study
. 2005 Nov;37(11):1213-5.
doi: 10.1038/ng1661. Epub 2005 Oct 23.

Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse

Thomas Schmitt-John  1 , Carsten Drepper, Anke Mussmann, Phillip Hahn, Melanie Kuhlmann, Cora Thiel, Martin Hafner, Andreas Lengeling, Peter Heimann, Julie M Jones, Miriam H Meisler, Harald Jockusch
Affiliations
Comparative Study

Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse

Thomas Schmitt-John et al. Nat Genet. 2005 Nov.

Abstract

Vacuolar-vesicular protein sorting (Vps) factors are involved in vesicular trafficking in eukaryotic cells. We identified the missense mutation L967Q in Vps54 in the wobbler mouse, an animal model of amyotrophic lateral sclerosis, and also characterized a lethal allele, Vps54(beta-geo). Motoneuron survival and spermiogenesis are severely compromised in the wobbler mouse, indicating that Vps54 has an essential role in these processes.

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