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.

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DOI
Autor*in
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
Alle
Einrichtung
Fakultät für Biologie > Genetik und Genomik der Pflanzen
Centrum für Biotechnologie > Graduate Center
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.
Erscheinungsjahr
2005
Zeitschriftentitel
Nature Genetics
Band
37
Ausgabe
11
Seite(n)
1213-1215
ISSN
1061-4036
Page URI
https://pub.uni-bielefeld.de/record/1601626

Zitieren

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. https://doi.org/10.1038/ng1661
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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Meccariello R, Chianese R, Scarpa D, Berruti G, Cobellis G, Pierantoni R, Fasano S., Gen Comp Endocrinol 153(1-3), 2007
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Progesterone: therapeutic opportunities for neuroprotection and myelin repair.
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Lambrechts D, Robberecht W, Carmeliet P., Trends Neurosci 30(10), 2007
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Targets in ALS: designing multidrug therapies.
Carrì MT, Grignaschi G, Bendotti C., Trends Pharmacol Sci 27(5), 2006
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Bigini P, Gardoni F, Barbera S, Cagnotto A, Fumagalli E, Longhi A, Corsi MM, Di Luca M, Mennini T., BMC Neurosci 7(), 2006
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Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD.
Momeni P, Schymick J, Jain S, Cookson MR, Cairns NJ, Greggio E, Greenway MJ, Berger S, Pickering-Brown S, Chiò A, Fung HC, Holtzman DM, Huey ED, Wassermann EM, Adamson J, Hutton ML, Rogaeva E, St George-Hyslop P, Rothstein JD, Hardiman O, Grafman J, Singleton A, Hardy J, Traynor BJ., BMC Neurol 6(), 2006
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