Schmitt-John et al. (2005) Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse.

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

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CONTRIBUTORS:

	Author:	Schmitt-John, T
	Author:	Drepper, C
	Author:	Mussmann, A
	Author:	Hahn, P
	Author:	Kuhlmann, M
	Author:	Thiel, C
	Author:	Hafner, Martin (Helmholtz Centre for Infection Research)
	Author:	Lengeling, A
	Author:	Heimann, P
	Author:	Jones, JM
	Author:	Meisler, MH
	Author:	Jockusch, H

JOURNAL:

Nature Genetics, 37(11), 1213 - 1215.

YEAR:

2005

PUB TYPE:

Journal Article

SUBJECT(S):

None

DISCIPLINE:

No discipline assigned

HTTP:

http://www.nature.com/ng/journal/v37/n11/abs/ng1661.html

LANGUAGE:

None

PUB ID:

103-434-518 (Last edited on 2007/05/19 14:25:01 GMT-6)

SPONSOR(S):

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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