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

Schmitt-John T, Drepper C, Mussmann A, Hahn P, Kuhlmann M, Thiel C, Hafner M, Lengeling A, Heimann P, Jones JM, Meisler MH, et al. (2005)
Nature Genetics 37(11): 1213-1215.

Zeitschriftenaufsatz | Veröffentlicht | Englisch
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Schmitt-John, T; Drepper, C; Mussmann, A; Hahn, P; Kuhlmann, M; Thiel, C; Hafner, M; Lengeling, A; Heimann, PeterUniBi; Jones, JM; Meisler, MH; Jockusch, HaraldUniBi
Abstract / Bemerkung
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.
Nature Genetics
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Schmitt-John T, Drepper C, Mussmann A, et al. Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse. Nature Genetics. 2005;37(11):1213-1215.
Schmitt-John, T., Drepper, C., Mussmann, A., Hahn, P., Kuhlmann, M., Thiel, C., Hafner, M., et al. (2005). Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse. Nature Genetics, 37(11), 1213-1215.
Schmitt-John, T, Drepper, C, Mussmann, A, Hahn, P, Kuhlmann, M, Thiel, C, Hafner, M, et al. 2005. “Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse”. Nature Genetics 37 (11): 1213-1215.
Schmitt-John, T., Drepper, C., Mussmann, A., Hahn, P., Kuhlmann, M., Thiel, C., Hafner, M., Lengeling, A., Heimann, P., Jones, J. M., et al. (2005). Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse. Nature Genetics 37, 1213-1215.
Schmitt-John, T., et al., 2005. Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse. Nature Genetics, 37(11), p 1213-1215.
T. Schmitt-John, et al., “Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse”, Nature Genetics, vol. 37, 2005, pp. 1213-1215.
Schmitt-John, T., Drepper, C., Mussmann, A., Hahn, P., Kuhlmann, M., Thiel, C., Hafner, M., Lengeling, A., Heimann, P., Jones, J.M., Meisler, M.H., Jockusch, H.: Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse. Nature Genetics. 37, 1213-1215 (2005).
Schmitt-John, T, Drepper, C, Mussmann, A, Hahn, P, Kuhlmann, M, Thiel, C, Hafner, M, Lengeling, A, Heimann, Peter, Jones, JM, Meisler, MH, and Jockusch, Harald. “Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse”. Nature Genetics 37.11 (2005): 1213-1215.

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