Loss of Vps54 Function Leads to Vesicle Traffic Impairment, Protein Mis-Sorting and Embryonic Lethality
Karlsson P, Droce A, Moser JM, Cuhlmann S, Padilla CO, Heimann P, Bartsch JW, Fuchtbauer A, Fuchtbauer E-M, Schmitt-John T (2013)
International Journal Of Molecular Sciences 14(6): 10908-10925.
Zeitschriftenaufsatz
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Autor*in
Karlsson, Pall;
Droce, Aida;
Moser, Jakob M.;
Cuhlmann, Simon;
Padilla, Carolina Ortiz;
Heimann, PeterUniBi;
Bartsch, Joerg W.;
Fuchtbauer, Annette;
Fuchtbauer, Ernst-Martin;
Schmitt-John, Thomas
Einrichtung
Abstract / Bemerkung
The identification of the mutation causing the phenotype of the amyotrophic lateral sclerosis (ALS) model mouse, wobbler, has linked motor neuron degeneration with retrograde vesicle traffic. The wobbler mutation affects protein stability of Vps54, a ubiquitously expressed vesicle-tethering factor and leads to partial loss of Vps54 function. Moreover, the Vps54 null mutation causes embryonic lethality, which is associated with extensive membrane blebbing in the neural tube and is most likely a consequence of impaired vesicle transport. Investigation of cells derived from wobbler and Vps54 null mutant embryos demonstrates impaired retrograde transport of the Cholera-toxin B subunit to the trans-Golgi network and mis-sorting of mannose-6-phosphate receptors and cargo proteins dependent on retrograde vesicle transport. Endocytosis assays demonstrate no difference between wobbler and wild type cells, indicating that the retrograde vesicle traffic to the trans-Golgi network, but not endocytosis, is affected in Vps54 mutant cells. The results obtained on wobbler cells were extended to test the use of cultured skin fibroblasts from human ALS patients to investigate the retrograde vesicle traffic. Analysis of skin fibroblasts of ALS patients will support the investigation of the critical role of the retrograde vesicle transport in ALS pathogenesis and might yield a diagnostic prospect.
Stichworte
retrograde vesicle transport;
GARP complex;
ALS;
Vps54;
wobbler
Erscheinungsjahr
2013
Zeitschriftentitel
International Journal Of Molecular Sciences
Band
14
Ausgabe
6
Seite(n)
10908-10925
ISSN
1422-0067
eISSN
1422-0067
Page URI
https://pub.uni-bielefeld.de/record/2612846
Zitieren
Karlsson P, Droce A, Moser JM, et al. Loss of Vps54 Function Leads to Vesicle Traffic Impairment, Protein Mis-Sorting and Embryonic Lethality. International Journal Of Molecular Sciences. 2013;14(6):10908-10925.
Karlsson, P., Droce, A., Moser, J. M., Cuhlmann, S., Padilla, C. O., Heimann, P., Bartsch, J. W., et al. (2013). Loss of Vps54 Function Leads to Vesicle Traffic Impairment, Protein Mis-Sorting and Embryonic Lethality. International Journal Of Molecular Sciences, 14(6), 10908-10925. doi:10.3390/ijms140610908
Karlsson, Pall, Droce, Aida, Moser, Jakob M., Cuhlmann, Simon, Padilla, Carolina Ortiz, Heimann, Peter, Bartsch, Joerg W., Fuchtbauer, Annette, Fuchtbauer, Ernst-Martin, and Schmitt-John, Thomas. 2013. “Loss of Vps54 Function Leads to Vesicle Traffic Impairment, Protein Mis-Sorting and Embryonic Lethality”. International Journal Of Molecular Sciences 14 (6): 10908-10925.
Karlsson, P., Droce, A., Moser, J. M., Cuhlmann, S., Padilla, C. O., Heimann, P., Bartsch, J. W., Fuchtbauer, A., Fuchtbauer, E. - M., and Schmitt-John, T. (2013). Loss of Vps54 Function Leads to Vesicle Traffic Impairment, Protein Mis-Sorting and Embryonic Lethality. International Journal Of Molecular Sciences 14, 10908-10925.
Karlsson, P., et al., 2013. Loss of Vps54 Function Leads to Vesicle Traffic Impairment, Protein Mis-Sorting and Embryonic Lethality. International Journal Of Molecular Sciences, 14(6), p 10908-10925.
P. Karlsson, et al., “Loss of Vps54 Function Leads to Vesicle Traffic Impairment, Protein Mis-Sorting and Embryonic Lethality”, International Journal Of Molecular Sciences, vol. 14, 2013, pp. 10908-10925.
Karlsson, P., Droce, A., Moser, J.M., Cuhlmann, S., Padilla, C.O., Heimann, P., Bartsch, J.W., Fuchtbauer, A., Fuchtbauer, E.-M., Schmitt-John, T.: Loss of Vps54 Function Leads to Vesicle Traffic Impairment, Protein Mis-Sorting and Embryonic Lethality. International Journal Of Molecular Sciences. 14, 10908-10925 (2013).
Karlsson, Pall, Droce, Aida, Moser, Jakob M., Cuhlmann, Simon, Padilla, Carolina Ortiz, Heimann, Peter, Bartsch, Joerg W., Fuchtbauer, Annette, Fuchtbauer, Ernst-Martin, and Schmitt-John, Thomas. “Loss of Vps54 Function Leads to Vesicle Traffic Impairment, Protein Mis-Sorting and Embryonic Lethality”. International Journal Of Molecular Sciences 14.6 (2013): 10908-10925.
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UNIPROT
4 Einträge gefunden, die diesen Artikel zitieren
Vacuolar protein sorting-associated protein 54 (UNIPROT: Q5SPW0)
Organism: Mus musculus
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Organism: Mus musculus
Download in FASTA format
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