Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse.
Nat Genet
; 37(11): 1213-5, 2005 Nov.
Article
en En
| MEDLINE
| ID: mdl-16244655
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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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Espermatogénesis
/
Enfermedad de la Neurona Motora
/
Mutación Missense
/
Proteínas de Transporte Vesicular
Tipo de estudio:
Etiology_studies
/
Prognostic_studies
Límite:
Animals
Idioma:
En
Revista:
Nat Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2005
Tipo del documento:
Article
País de afiliación:
Alemania