|
|||||
|
|
Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse |
|
| Authors: | Schmitt-John Thomas Drepper Carsten Mussmann Anke Hahn Phillip Kuhlmann Melanie Thiel Cora Hafner Martin Lengeling Andreas Heimann Peter Jones Julie M Meisler Miriam H Jockusch Harald |
| Affiliation: | 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. |
| Keywords: | |
| 本文献已被 PubMed 等数据库收录！ | |