title: Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse.
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.
authors.affiliation: Developmental Biology and Molecular Pathology, Bielefeld University, Germany. tsj@mb.au.dk
authors.forename: Thomas
authors.initials: T
authors.lastname: Schmitt-John
authors.forename: Carsten
authors.initials: C
authors.lastname: Drepper
authors.forename: Anke
authors.initials: A
authors.lastname: Mussmann
authors.forename: Phillip
authors.initials: P
authors.lastname: Hahn
authors.forename: Melanie
authors.initials: M
authors.lastname: Kuhlmann
authors.forename: Cora
authors.initials: C
authors.lastname: Thiel
authors.forename: Martin
authors.initials: M
authors.lastname: Hafner
authors.forename: Andreas
authors.initials: A
authors.lastname: Lengeling
authors.forename: Peter
authors.initials: P
authors.lastname: Heimann
authors.forename: Julie M
authors.initials: JM
authors.lastname: Jones
authors.forename: Miriam H
authors.initials: MH
authors.lastname: Meisler
authors.forename: Harald
authors.initials: H
authors.lastname: Jockusch
mesh_terms: D000595:Amino Acid Sequence; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics; D000818:Animals; D022202:Chromosomes, Artificial, Bacterial; D003001:Cloning, Molecular; D005260:Female; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D008818:Mice, Neurologic Mutants; D008822:Mice, Transgenic; D008969:Molecular Sequence Data; D016472:Motor Neuron Disease / Q000235:genetics* / Q000473:pathology; D020125:Mutation, Missense / Q000235:genetics*; D017386:Sequence Homology, Amino Acid; D013091:Spermatogenesis / Q000235:genetics*; D033921:Vesicular Transport Proteins / Q000235:genetics*
chemical_list: D033921:Vesicular Transport Proteins; C486750:Vps54 protein, mouse