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Gene Review

Vps54  -  vacuolar protein sorting 54 (yeast)

Mus musculus

Synonyms: 5330404P15Rik, Hcc8, Tumor antigen SLP-8p homolog, Vacuolar protein sorting-associated protein 54, Vps54l, ...
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Disease relevance of Vps54


High impact information on Vps54


Chemical compound and disease context of Vps54


Biological context of Vps54


Anatomical context of Vps54

  • Our results argue against a humoral mechanism of the wobbler disease and indicate a cell-autonomous action of the wr gene both in testis and in spinal cord [14].
  • As no progeny was derived from wr spermatids, the spermatocytes appear as a primary target of the wr mutation in testis [14].
  • We have studied the lateral rectus muscles and neuromuscular junctions (NMJs) of abducens motoneurons in wobbler (wr/wr) mutant mice from 26 to 58 days of age [15].
  • Approximately 15% of the WR (wr/wr) CAST/B6 hybrids were modified wobbler (WR*) mice defined by an aggravated neuromuscular phenotype with hindlimbs severely affected in addition to forelimbs [16].

Associations of Vps54 with chemical compounds

  • Using a total of 341 NFR/wr strain pups, we found a strong association between RR and the Wobbler disease status (p<0.0001) between postnatal days 3 to 7, and achieved greater than 97% correct classification of Wobblers [17].
  • Indirect immunocytochemical studies using antibodies directed against the subunits of the ACh receptor failed to indicate an abnormal presence of immature receptors clustered at the NMJs of wr/wr mice [15].
  • The muscles of wr/wr weighed about 70% of the weight of littermate controls and were composed of fiber types comparable to those of controls, as assayed by succinate dehydrogenase activity [15].

Other interactions of Vps54

  • To understand the molecular aspect underlying the genetic defect we have studied the embryonic (from E13) and postnatal expression of the three neurofilament and choline acetyltransferase genes in each member from several wild-type (wt) and wobbler (wr) progenies [5].
  • A new diagnostic marker based on a polymorphism in the closely linked chaperonine gene Cct4 enabled us to diagnose the allelic status at the wr locus within the original background strain C57BL/6 [18].

Analytical, diagnostic and therapeutic context of Vps54


  1. 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, J.M., Meisler, M.H., Jockusch, H. Nat. Genet. (2005) [Pubmed]
  2. Exploring the mammalian neuromuscular system by analysis of mutations: spinal muscular atrophy and myotonia. Jockusch, H., Kaupmann, K., Gronemeier, M., Schleef, M., Klocke, R. Prog. Neurobiol. (1994) [Pubmed]
  3. YAC contigs of the Rab1 and wobbler (wr) spinal muscular atrophy gene region on proximal mouse chromosome 11 and of the homologous region on human chromosome 2p. Wedemeyer, N., Lengeling, A., Ronsiek, M., Korthaus, D., Baer, K., Wuttke, M., Jockusch, H. Genomics (1996) [Pubmed]
  4. Wobbler, a mutation affecting motoneuron survival and gonadal functions in the mouse, maps to proximal chromosome 11. Kaupmann, K., Simon-Chazottes, D., Guénet, J.L., Jockusch, H. Genomics (1992) [Pubmed]
  5. Early upregulation of medium neurofilament gene expression in developing spinal cord of the wobbler mouse mutant. Pernas-Alonso, R., Schaffner, A.E., Perrone-Capano, C., Orlando, A., Morelli, F., Hansen, C.T., Barker, J.L., Esposito, B., Cacucci, F., di Porzio, U. Brain Res. Mol. Brain Res. (1996) [Pubmed]
  6. Calcium-binding protein, parvalbumin, is reduced in mutant mammalian muscle with abnormal contractile properties. Stuhlfauth, I., Reininghaus, J., Jockusch, H., Heizmann, C.W. Proc. Natl. Acad. Sci. U.S.A. (1984) [Pubmed]
  7. The fine structure of the cervical spinal cord, ventral root and brachial nerves in the wobbler (wr) mouse. Andrews, J.M. J. Neuropathol. Exp. Neurol. (1975) [Pubmed]
  8. Regionalized neurofilament accumulation and motoneuron degeneration are linked phenotypes in wobbler neuromuscular disease. Pernas-Alonso, R., Perrone-Capano, C., Volpicelli, F., di Porzio, U. Neurobiol. Dis. (2001) [Pubmed]
  9. Glutamate transporters in the spinal cord of the wobbler mouse. Bigini, P., Bastone, A., Mennini, T. Neuroreport (2001) [Pubmed]
  10. The gene for cytoplasmatic malate dehydrogenase, Mor2, is closely linked to the wobbler spinal muscular atrophy gene (wr). Korthaus, D., Wedemeyer, N., Wiegand, C., Jockusch, H. Mamm. Genome (1996) [Pubmed]
  11. Plasminogen activators in the neuromuscular system of the wobbler mutant mouse. Blondet, B., Barlovatz-Meimon, G., Festoff, B.W., Soria, C., Soria, J., Rieger, F., Hantai, D. Brain Res. (1992) [Pubmed]
  12. Identification, characterization and cytogenetic mapping of a yeast Vps54 homolog in rat and mouse. Walter, L., Stark, S., Helou, K., Flügge, P., Levan, G., Günther, E. Gene (2002) [Pubmed]
  13. Exclusion of the beta-subunit of type II calmodulin kinase for the wobbler spinal muscular atrophy gene. Bronstein, J.M., Yamashita, C., Farber, D.B. Brain Res. Mol. Brain Res. (1996) [Pubmed]
  14. Spinal muscular atrophy gene wobbler of the mouse: evidence from chimeric spinal cord and testis for cell-autonomous function. Augustin, M., Heimann, P., Rathke, S., Jockusch, H. Dev. Dyn. (1997) [Pubmed]
  15. Abnormal neuromuscular junctions in the lateral rectus muscle of wobbler mice. LaVail, J.H., Irons, K.P. Brain Res. (1988) [Pubmed]
  16. Genetic modifiers that aggravate the neurological phenotype of the wobbler mouse. Ulbrich, M., Schmidt, V.C., Ronsiek, M., Mussmann, A., Bartsch, J.W., Augustin, M., Jockusch, H., Schmitt-John, T. Neuroreport (2002) [Pubmed]
  17. A novel behavioral method to detect motoneuron disease in Wobbler mice aged three to seven days old. Bose, P., Fielding, R., Ameis, K.M., Vacca-Galloway, L.L. Brain Res. (1998) [Pubmed]
  18. Spatiotemporal progression of neurodegeneration and glia activation in the wobbler neuropathy of the mouse. Rathke-Hartlieb, S., Schmidt, V.C., Jockusch, H., Schmitt-John, T., Bartsch, J.W. Neuroreport (1999) [Pubmed]
  19. Genetic transfer of the wobbler gene to a C57BL/6J x NZB hybrid stock: natural history of the motor neuron disease and response to CNTF and BDNF cotreatment. Ishiyama, T., Klinkosz, B., Pioro, E.P., Mitsumoto, H. Exp. Neurol. (1997) [Pubmed]
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