Format

Send to

Choose Destination
Nat Genet. 2005 Nov;37(11):1213-5. Epub 2005 Oct 23.

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

Author information

1
Developmental Biology and Molecular Pathology, Bielefeld University, Germany. tsj@mb.au.dk

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.

PMID:
16244655
DOI:
10.1038/ng1661
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Nature Publishing Group
Loading ...
Support Center