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 JM, Meisler MH, et al. (2005)
Nature Genetics 37(11): 1213-1215.

Zeitschriftenaufsatz | Veröffentlicht | Englisch
 
Download
Es wurden keine Dateien hochgeladen. Nur Publikationsnachweis!
DOI
Autor*in
Schmitt-John, T; Drepper, C; Mussmann, A; Hahn, P; Kuhlmann, M; Thiel, C; Hafner, M; Lengeling, A; Heimann, PeterUniBi; Jones, JM; Meisler, MH; Jockusch, HaraldUniBi
Einrichtung
Fakultät für Biologie > Genetik und Genomik der Pflanzen
Centrum für Biotechnologie > Graduate Center
Abstract / Bemerkung
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.
Erscheinungsjahr
2005
Zeitschriftentitel
Nature Genetics
Band
37
Ausgabe
11
Seite(n)
1213-1215
ISSN
1061-4036
Page URI
https://pub.uni-bielefeld.de/record/1601626

Zitieren

Schmitt-John T, Drepper C, Mussmann A, et al. Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse. Nature Genetics. 2005;37(11):1213-1215.
Schmitt-John, T., Drepper, C., Mussmann, A., Hahn, P., Kuhlmann, M., Thiel, C., Hafner, M., et al. (2005). Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse. Nature Genetics, 37(11), 1213-1215. https://doi.org/10.1038/ng1661
Schmitt-John, T, Drepper, C, Mussmann, A, Hahn, P, Kuhlmann, M, Thiel, C, Hafner, M, et al. 2005. “Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse”. Nature Genetics 37 (11): 1213-1215.
Schmitt-John, T., Drepper, C., Mussmann, A., Hahn, P., Kuhlmann, M., Thiel, C., Hafner, M., Lengeling, A., Heimann, P., Jones, J. M., et al. (2005). Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse. Nature Genetics 37, 1213-1215.
Schmitt-John, T., et al., 2005. Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse. Nature Genetics, 37(11), p 1213-1215.
T. Schmitt-John, et al., “Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse”, Nature Genetics, vol. 37, 2005, pp. 1213-1215.
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.: Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse. Nature Genetics. 37, 1213-1215 (2005).
Schmitt-John, T, Drepper, C, Mussmann, A, Hahn, P, Kuhlmann, M, Thiel, C, Hafner, M, Lengeling, A, Heimann, Peter, Jones, JM, Meisler, MH, and Jockusch, Harald. “Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse”. Nature Genetics 37.11 (2005): 1213-1215.

131 Zitationen in Europe PMC

Daten bereitgestellt von Europe PubMed Central.

Thrombin and the Coag-Inflammatory Nexus in Neurotrauma, ALS, and Other Neurodegenerative Disorders.
Festoff BW, Citron BA., Front Neurol 10(), 2019
PMID: 30804878
The rare mutation in the endosome-associated recycling protein gene VPS50 is associated with human neural tube defects.
Shi Z, Chen S, Han X, Peng R, Luo J, Yang L, Zheng Y, Wang H., Mol Cytogenet 12(), 2019
PMID: 30828385
The Plant Trans-Golgi Network: Not Just a Matter of Distinction.
Rosquete MR, Davis DJ, Drakakaki G., Plant Physiol 176(1), 2018
PMID: 29192030
Increased ROS Level in Spinal Cord of Wobbler Mice due to Nmnat2 Downregulation.
Röderer P, Klatt L, John F, Theis V, Winklhofer KF, Theiss C, Matschke V., Mol Neurobiol 55(11), 2018
PMID: 29549647
Neuromuscular Junction Morphology and Gene Dysregulation in the Wobbler Model of Spinal Neurodegeneration.
Ratliff WA, Saykally JN, Kane MJ, Citron BA., J Mol Neurosci 66(1), 2018
PMID: 30105628
Dynamic of contribution of UBPy-sorted cargo to acrosome biogenesis: effects of its derailment in a mouse model of globozoospermia, the infertile Vps54 (L967Q) mutant.
Gioria M, Pasini ME, Berruti G., Cell Tissue Res 369(2), 2017
PMID: 28299521
Endocytic membrane trafficking and neurodegenerative disease.
Schreij AM, Fon EA, McPherson PS., Cell Mol Life Sci 73(8), 2016
PMID: 26721251
Severe impairment of male reproductive organ development in a low SMN expressing mouse model of spinal muscular atrophy.
Ottesen EW, Howell MD, Singh NN, Seo J, Whitley EM, Singh RN., Sci Rep 6(), 2016
PMID: 26830971
Emerging Insights into the Roles of Membrane Tethers from Analysis of Whole Organisms: The Tip of an Iceberg?
Toh WH, Gleeson PA., Front Cell Dev Biol 4(), 2016
PMID: 26973835
The Spatiotemporal Pattern of Degeneration in the Cerebellum of the Wobbler Mouse.
Saberi D, Ott B, Dahlke C, Matschke V, Schmitt-John T, Theiss C., J Neuropathol Exp Neurol 75(4), 2016
PMID: 26945034
Membrane dynamics in mammalian embryogenesis: Implication in signal regulation.
Wada Y, Sun-Wada GH, Kawamura N, Yasukawa J., Birth Defects Res C Embryo Today 108(1), 2016
PMID: 26992153
The EARP Complex and Its Interactor EIPR-1 Are Required for Cargo Sorting to Dense-Core Vesicles.
Topalidou I, Cattin-Ortolá J, Pappas AL, Cooper K, Merrihew GE, MacCoss MJ, Ailion M., PLoS Genet 12(5), 2016
PMID: 27191843
TSSC1 is novel component of the endosomal retrieval machinery.
Gershlick DC, Schindler C, Chen Y, Bonifacino JS., Mol Biol Cell 27(18), 2016
PMID: 27440922
The role of acroblast formation during Drosophila spermatogenesis.
Fári K, Takács S, Ungár D, Sinka R., Biol Open 5(8), 2016
PMID: 27481842
Vaccinia Virus Uses Retromer-Independent Cellular Retrograde Transport Pathways To Facilitate the Wrapping of Intracellular Mature Virions during Virus Morphogenesis.
Harrison K, Haga IR, Pechenick Jowers T, Jasim S, Cintrat JC, Gillet D, Schmitt-John T, Digard P, Beard PM., J Virol 90(22), 2016
PMID: 27581988
Comparative profiling of the sperm proteome.
Holland A, Ohlendieck K., Proteomics 15(4), 2015
PMID: 24909132
Editorial: Golgi Pathology in Neurodegenerative Diseases.
Rabouille C, Haase G., Front Neurosci 9(), 2015
PMID: 26778948
The small G protein Arl5 contributes to endosome-to-Golgi traffic by aiding the recruitment of the GARP complex to the Golgi.
Rosa-Ferreira C, Christis C, Torres IL, Munro S., Biol Open 4(4), 2015
PMID: 25795912
Identification and characterization of reproductive KRAB-ZF genes in mice.
Jin S, Choi H, Kwon JT, Kim J, Jeong J, Kim J, Ham S, Cho BN, Yoo YJ, Cho C., Gene 565(1), 2015
PMID: 25827285
Implementation of a manual for working with wobbler mice and criteria for discontinuation of the experiment.
Ott B, Dahlke C, Meller K, Napirei M, Schmitt-John T, Brand-Saberi B, Theiss C, Saberi D., Ann Anat 200(), 2015
PMID: 25929815
Post-Golgi anterograde transport requires GARP-dependent endosome-to-TGN retrograde transport.
Hirata T, Fujita M, Nakamura S, Gotoh K, Motooka D, Murakami Y, Maeda Y, Kinoshita T., Mol Biol Cell 26(17), 2015
PMID: 26157166
Rab1-dependent ER-Golgi transport dysfunction is a common pathogenic mechanism in SOD1, TDP-43 and FUS-associated ALS.
Soo KY, Halloran M, Sundaramoorthy V, Parakh S, Toth RP, Southam KA, McLean CA, Lock P, King A, Farg MA, Atkin JD., Acta Neuropathol 130(5), 2015
PMID: 26298469
VPS54 and the wobbler mouse.
Schmitt-John T., Front Neurosci 9(), 2015
PMID: 26539077
Inflammation and neuronal death in the motor cortex of the wobbler mouse, an ALS animal model.
Dahlke C, Saberi D, Ott B, Brand-Saberi B, Schmitt-John T, Theiss C., J Neuroinflammation 12(), 2015
PMID: 26597538
The ESCRT-deubiquitinating enzyme USP8 in the cervical spinal cord of wild-type and Vps54-recessive (wobbler) mutant mice.
Paiardi C, Pasini ME, Amadeo A, Gioria M, Berruti G., Histochem Cell Biol 141(1), 2014
PMID: 23615794
Neuroprotective effects of the Sigma-1 receptor (S1R) agonist PRE-084, in a mouse model of motor neuron disease not linked to SOD1 mutation.
Peviani M, Salvaneschi E, Bontempi L, Petese A, Manzo A, Rossi D, Salmona M, Collina S, Bigini P, Curti D., Neurobiol Dis 62(), 2014
PMID: 24141020
Pathoproteomics of testicular tissue deficient in the GARP component VPS54: the wobbler mouse model of globozoospermia.
Jockusch H, Holland A, Staunton L, Schmitt-John T, Heimann P, Dowling P, Ohlendieck K., Proteomics 14(7-8), 2014
PMID: 24115398
Mutant SOD1 inhibits ER-Golgi transport in amyotrophic lateral sclerosis.
Atkin JD, Farg MA, Soo KY, Walker AK, Halloran M, Turner BJ, Nagley P, Horne MK., J Neurochem 129(1), 2014
PMID: 24134191
The selective glucocorticoid receptor modulator CORT108297 restores faulty hippocampal parameters in Wobbler and corticosterone-treated mice.
Meyer M, Gonzalez Deniselle MC, Hunt H, de Kloet ER, De Nicola AF., J Steroid Biochem Mol Biol 143(), 2014
PMID: 24565565
Neurodegenerative changes are prevented by Erythropoietin in the pmn model of motoneuron degeneration.
Ruiz M, Martínez-Vidal AF, Morales JM, Monleón D, Giménez Y Ribotta M., Neuropharmacology 83(), 2014
PMID: 24769002
Atg7 is required for acrosome biogenesis during spermatogenesis in mice.
Wang H, Wan H, Li X, Liu W, Chen Q, Wang Y, Yang L, Tang H, Zhang X, Duan E, Zhao X, Gao F, Li W., Cell Res 24(7), 2014
PMID: 24853953
Loss of function of the ALS protein SigR1 leads to ER pathology associated with defective autophagy and lipid raft disturbances.
Vollrath JT, Sechi A, Dreser A, Katona I, Wiemuth D, Vervoorts J, Dohmen M, Chandrasekar A, Prause J, Brauers E, Jesse CM, Weis J, Goswami A., Cell Death Dis 5(), 2014
PMID: 24922074
Molecular chaperones, cochaperones, and ubiquitination/deubiquitination system: involvement in the production of high quality spermatozoa.
Meccariello R, Chianese R, Ciaramella V, Fasano S, Pierantoni R., Biomed Res Int 2014(), 2014
PMID: 25045686
Intricate effects of primary motor neuronopathy on contractile proteins and metabolic muscle enzymes as revealed by label-free mass spectrometry.
Holland A, Schmitt-John T, Dowling P, Meleady P, Henry M, Clynes M, Ohlendieck K., Biosci Rep 34(4), 2014
PMID: 24895011
In sickness and in health: the role of TRAPP and associated proteins in disease.
Brunet S, Sacher M., Traffic 15(8), 2014
PMID: 24917561
Toll-like receptors in central nervous system injury and disease: a focus on the spinal cord.
Heiman A, Pallottie A, Heary RF, Elkabes S., Brain Behav Immun 42(), 2014
PMID: 25063708
TPC1 has two variant isoforms, and their removal has different effects on endo-lysosomal functions compared to loss of TPC2.
Ruas M, Chuang KT, Davis LC, Al-Douri A, Tynan PW, Tunn R, Teboul L, Galione A, Parrington J., Mol Cell Biol 34(21), 2014
PMID: 25135478
Mouse models of mitochondrial complex I dysfunction.
Irwin MH, Parameshwaran K, Pinkert CA., Int J Biochem Cell Biol 45(1), 2013
PMID: 22903069
Proteomic identification of biomarkers of skeletal muscle disorders.
Ohlendieck K., Biomark Med 7(1), 2013
PMID: 23387498
The wobbler mouse, an ALS animal model.
Moser JM, Bigini P, Schmitt-John T., Mol Genet Genomics 288(5-6), 2013
PMID: 23539154
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, Füchtbauer A, Füchtbauer EM, Schmitt-John T., Int J Mol Sci 14(6), 2013
PMID: 23708095
Endogenous progesterone levels and frontotemporal dementia: modulation of TDP-43 and Tau levels in vitro and treatment of the A315T TARDBP mouse model.
Dang TN, Dobson-Stone C, Glaros EN, Kim WS, Hallupp M, Bartley L, Piguet O, Hodges JR, Halliday GM, Double KL, Schofield PR, Crouch PJ, Kwok JB., Dis Model Mech 6(5), 2013
PMID: 23798570
Neuro-muscular function in the wobbler murine model of primary motor neuronopathy.
Broch-Lips M, Pedersen TH, Riisager A, Schmitt-John T, Nielsen OB., Exp Neurol 248(), 2013
PMID: 23872513
Phosphatidylserine flipping enhances membrane curvature and negative charge required for vesicular transport.
Xu P, Baldridge RD, Chi RJ, Burd CG, Graham TR., J Cell Biol 202(6), 2013
PMID: 24019533
Transcriptomic indices of fast and slow disease progression in two mouse models of amyotrophic lateral sclerosis.
Nardo G, Iennaco R, Fusi N, Heath PR, Marino M, Trolese MC, Ferraiuolo L, Lawrence N, Shaw PJ, Bendotti C., Brain 136(pt 11), 2013
PMID: 24065725
Ubiquitination regulates the morphogenesis and function of sperm organelles.
Nakamura N., Cells 2(4), 2013
PMID: 24709878
The Wobbler mouse model of amyotrophic lateral sclerosis (ALS) displays hippocampal hyperexcitability, and reduced number of interneurons, but no presynaptic vesicle release impairments.
Thielsen KD, Moser JM, Schmitt-John T, Jensen MS, Jensen K, Holm MM., PLoS One 8(12), 2013
PMID: 24349357
Magnetic resonance imaging of pathological processes in rodent models of amyotrophic lateral sclerosis.
Evans MC, Modo M, Talbot K, Sibson N, Turner MR., Amyotroph Lateral Scler 13(3), 2012
PMID: 22117132
Endocytosis and intracellular trafficking contribute to necrotic neurodegeneration in C. elegans.
Troulinaki K, Tavernarakis N., EMBO J 31(3), 2012
PMID: 22157748
Lipid metabolism and Drosophila sperm development.
Wang C, Huang X., Sci China Life Sci 55(1), 2012
PMID: 22314489
Frontotemporal dementia: implications for understanding Alzheimer disease.
Goedert M, Ghetti B, Spillantini MG., Cold Spring Harb Perspect Med 2(2), 2012
PMID: 22355793
Longitudinal tracking of human fetal cells labeled with super paramagnetic iron oxide nanoparticles in the brain of mice with motor neuron disease.
Bigini P, Diana V, Barbera S, Fumagalli E, Micotti E, Sitia L, Paladini A, Bisighini C, De Grada L, Coloca L, Colombo L, Manca P, Bossolasco P, Malvestiti F, Fiordaliso F, Forloni G, Morbidelli M, Salmona M, Giardino D, Mennini T, Moscatelli D, Silani V, Cova L., PLoS One 7(2), 2012
PMID: 22384217
Brain, blood, and iron: perspectives on the roles of erythrocytes and iron in neurodegeneration.
Prohaska R, Sibon OC, Rudnicki DD, Danek A, Hayflick SJ, Verhaag EM, Vonk JJ, Margolis RL, Walker RH., Neurobiol Dis 46(3), 2012
PMID: 22426390
TDP-43 and FUS RNA-binding proteins bind distinct sets of cytoplasmic messenger RNAs and differently regulate their post-transcriptional fate in motoneuron-like cells.
Colombrita C, Onesto E, Megiorni F, Pizzuti A, Baralle FE, Buratti E, Silani V, Ratti A., J Biol Chem 287(19), 2012
PMID: 22427648
Human skeletal muscle stem cell antiinflammatory activity ameliorates clinical outcome in amyotrophic lateral sclerosis models.
Canzi L, Castellaneta V, Navone S, Nava S, Dossena M, Zucca I, Mennini T, Bigini P, Parati EA., Mol Med 18(), 2012
PMID: 22076467
Neural precursors (NPCs) from adult L967Q mice display early commitment to "in vitro" neuronal differentiation and hyperexcitability.
DiFebo F, Curti D, Botti F, Biella G, Bigini P, Mennini T, Toselli M., Exp Neurol 236(2), 2012
PMID: 22634210
Necrotic cell death and neurodegeneration: The involvement of endocytosis and intracellular trafficking.
Troulinaki K, Tavernarakis N., Worm 1(3), 2012
PMID: 24058844
Neuroprotective effects of toll-like receptor 4 antagonism in spinal cord cultures and in a mouse model of motor neuron degeneration.
De Paola M, Mariani A, Bigini P, Peviani M, Ferrara G, Molteni M, Gemma S, Veglianese P, Castellaneta V, Boldrin V, Rossetti C, Chiabrando C, Forloni G, Mennini T, Fanelli R., Mol Med 18(), 2012
PMID: 22562723
Local axonal function of STAT3 rescues axon degeneration in the pmn model of motoneuron disease.
Selvaraj BT, Frank N, Bender FL, Asan E, Sendtner M., J Cell Biol 199(3), 2012
PMID: 23109669
An early onset progressive motor neuron disorder in Scyl1-deficient mice is associated with mislocalization of TDP-43.
Pelletier S, Gingras S, Howell S, Vogel P, Ihle JN., J Neurosci 32(47), 2012
PMID: 23175812
Molecular identification of t(w5): Vps52 promotes pluripotential cell differentiation through cell-cell interactions.
Sugimoto M, Kondo M, Hirose M, Suzuki M, Mekada K, Abe T, Kiyonari H, Ogura A, Takagi N, Artzt K, Abe K., Cell Rep 2(5), 2012
PMID: 23142660
Genetic correction of human induced pluripotent stem cells from patients with spinal muscular atrophy.
Corti S, Nizzardo M, Simone C, Falcone M, Nardini M, Ronchi D, Donadoni C, Salani S, Riboldi G, Magri F, Menozzi G, Bonaglia C, Rizzo F, Bresolin N, Comi GP., Sci Transl Med 4(165), 2012
PMID: 23253609
A computational prediction of structure and function of novel homologue of Arabidopsis thaliana Vps51/Vps67 subunit in Corchorus olitorius.
Zaman A, Fancy NN., Interdiscip Sci 4(4), 2012
PMID: 23354814
Reduced GABAergic inhibition explains cortical hyperexcitability in the wobbler mouse model of ALS.
Nieto-Gonzalez JL, Moser J, Lauritzen M, Schmitt-John T, Jensen K., Cereb Cortex 21(3), 2011
PMID: 20643756
VPS54 genetic analysis in ALS Italian cohort.
Corrado L, Gagliardi S, Carlomagno Y, Mennini T, Ticozzi N, Mazzini L, Silani V, Cereda C, D'Alfonso S., Eur J Neurol 18(4), 2011
PMID: 21087364
Transport according to GARP: receiving retrograde cargo at the trans-Golgi network.
Bonifacino JS, Hierro A., Trends Cell Biol 21(3), 2011
PMID: 21183348
Failure of acrosome formation and globozoospermia in the wobbler mouse, a Vps54 spontaneous recessive mutant.
Paiardi C, Pasini ME, Gioria M, Berruti G., Spermatogenesis 1(1), 2011
PMID: 21866276
Genetic rodent models of amyotrophic lateral sclerosis.
Van Den Bosch L., J Biomed Biotechnol 2011(), 2011
PMID: 21274268
Proteomic analysis of muscle affected by motor neuron degeneration: the wobbler mouse model of amyotrophic lateral sclerosis.
Staunton L, Jockusch H, Ohlendieck K., Biochem Biophys Res Commun 406(4), 2011
PMID: 21354103
Endosomal accumulation of APP in wobbler motor neurons reflects impaired vesicle trafficking: implications for human motor neuron disease.
Palmisano R, Golfi P, Heimann P, Shaw C, Troakes C, Schmitt-John T, Bartsch JW., BMC Neurosci 12(), 2011
PMID: 21385376
Acrosome biogenesis: Revisiting old questions to yield new insights.
Berruti G, Paiardi C., Spermatogenesis 1(2), 2011
PMID: 22319656
The Caenorhabditis elegans GARP complex contains the conserved Vps51 subunit and is required to maintain lysosomal morphology.
Luo L, Hannemann M, Koenig S, Hegermann J, Ailion M, Cho MK, Sasidharan N, Zweckstetter M, Rensing SA, Eimer S., Mol Biol Cell 22(14), 2011
PMID: 21613545
Intracerebroventricular administration of human umbilical cord blood cells delays disease progression in two murine models of motor neuron degeneration.
Bigini P, Veglianese P, Andriolo G, Cova L, Grignaschi G, Caron I, Daleno C, Barbera S, Ottolina A, Calzarossa C, Lazzari L, Mennini T, Bendotti C, Silani V., Rejuvenation Res 14(6), 2011
PMID: 21978082
Structure of Golgi transport proteins.
Kümmel D, Reinisch KM., Cold Spring Harb Perspect Biol 3(12), 2011
PMID: 21813399
Molecular motor proteins and amyotrophic lateral sclerosis.
Soo KY, Farg M, Atkin JD., Int J Mol Sci 12(12), 2011
PMID: 22272119
Stage dependent effects of progesterone on motoneurons and glial cells of wobbler mouse spinal cord degeneration.
Meyer M, Gonzalez Deniselle MC, Garay LI, Monachelli GG, Lima A, Roig P, Guennoun R, Schumacher M, De Nicola AF., Cell Mol Neurobiol 30(1), 2010
PMID: 19693665
Expression and localization of the deubiquitinating enzyme mUBPy in wobbler mouse testis during spermiogenesis.
Chianese R, Scarpa D, Berruti G, Cobellis G, Pierantoni R, Fasano S, Meccariello R., Gen Comp Endocrinol 166(2), 2010
PMID: 19800341
USP8, a regulator of endosomal sorting, is involved in mouse acrosome biogenesis through interaction with the spermatid ESCRT-0 complex and microtubules.
Berruti G, Ripolone M, Ceriani M., Biol Reprod 82(5), 2010
PMID: 20130268
Spinal muscular atrophy: new and emerging insights from model mice.
Park GH, Kariya S, Monani UR., Curr Neurol Neurosci Rep 10(2), 2010
PMID: 20425235
Neuropathologic and biochemical changes during disease progression in liver X receptor beta-/- mice, a model of adult neuron disease.
Bigini P, Steffensen KR, Ferrario A, Diomede L, Ferrara G, Barbera S, Salzano S, Fumagalli E, Ghezzi P, Mennini T, Gustafsson JA., J Neuropathol Exp Neurol 69(6), 2010
PMID: 20467332
Neural precursor-derived astrocytes of wobbler mice induce apoptotic death of motor neurons through reduced glutamate uptake.
Diana V, Ottolina A, Botti F, Fumagalli E, Calcagno E, De Paola M, Cagnotto A, Invernici G, Parati E, Curti D, Mennini T., Exp Neurol 225(1), 2010
PMID: 20558160
Structural basis for the wobbler mouse neurodegenerative disorder caused by mutation in the Vps54 subunit of the GARP complex.
Pérez-Victoria FJ, Abascal-Palacios G, Tascón I, Kajava A, Magadán JG, Pioro EP, Bonifacino JS, Hierro A., Proc Natl Acad Sci U S A 107(29), 2010
PMID: 20615984
Structure of a C-terminal fragment of its Vps53 subunit suggests similarity of Golgi-associated retrograde protein (GARP) complex to a family of tethering complexes.
Vasan N, Hutagalung A, Novick P, Reinisch KM., Proc Natl Acad Sci U S A 107(32), 2010
PMID: 20660722
Ang2/fat-free is a conserved subunit of the Golgi-associated retrograde protein complex.
Pérez-Victoria FJ, Schindler C, Magadán JG, Mardones GA, Delevoye C, Romao M, Raposo G, Bonifacino JS., Mol Biol Cell 21(19), 2010
PMID: 20685960
Amyotrophic lateral sclerosis pathogenesis: a journey through the secretory pathway.
Nassif M, Matus S, Castillo K, Hetz C., Antioxid Redox Signal 13(12), 2010
PMID: 20560784
Tumor necrosis factor-alpha (TNF-alpha) regulates shedding of TNF-alpha receptor 1 by the metalloprotease-disintegrin ADAM8: evidence for a protease-regulated feedback loop in neuroprotection.
Bartsch JW, Wildeboer D, Koller G, Naus S, Rittger A, Moss ML, Minai Y, Jockusch H., J Neurosci 30(36), 2010
PMID: 20826683
Exome sequencing reveals VCP mutations as a cause of familial ALS.
Johnson JO, Mandrioli J, Benatar M, Abramzon Y, Van Deerlin VM, Trojanowski JQ, Gibbs JR, Brunetti M, Gronka S, Wuu J, Ding J, McCluskey L, Martinez-Lage M, Falcone D, Hernandez DG, Arepalli S, Chong S, Schymick JC, Rothstein J, Landi F, Wang YD, Calvo A, Mora G, Sabatelli M, Monsurrò MR, Battistini S, Salvi F, Spataro R, Sola P, Borghero G, ITALSGEN Consortium, Galassi G, Scholz SW, Taylor JP, Restagno G, Chiò A, Traynor BJ., Neuron 68(5), 2010
PMID: 21145000
Mouse forward genetics in the study of the peripheral nervous system and human peripheral neuropathy.
Douglas DS, Popko B., Neurochem Res 34(1), 2009
PMID: 18481175
Wobbler mice modeling motor neuron disease display elevated transactive response DNA binding protein.
Dennis JS, Citron BA., Neuroscience 158(2), 2009
PMID: 19013502
The Vps33a gene regulates behavior and cerebellar Purkinje cell number.
Chintala S, Novak EK, Spernyak JA, Mazurchuk R, Torres G, Patel S, Busch K, Meeder BA, Horowitz JM, Vaughan MM, Swank RT., Brain Res 1266(), 2009
PMID: 19254700
Release of [3H]D-aspartate induced by K+-stimulation is increased in the cervical spinal cord of the wobbler mouse: a model of motor neuron disease.
Bonanno G, Fumagalli E, Milanese M, Zappettini S, Mennini T., Neurochem Int 55(5), 2009
PMID: 19576518
Testicular gonadotropin-releasing hormone activity, progression of spermatogenesis, and sperm transport in vertebrates.
Pierantoni R, Cobellis G, Meccariello R, Cacciola G, Chianese R, Chioccarelli T, Fasano S., Ann N Y Acad Sci 1163(), 2009
PMID: 19456349
Experimental models for the study of neurodegeneration in amyotrophic lateral sclerosis.
Tovar-Y-Romo LB, Santa-Cruz LD, Tapia R., Mol Neurodegener 4(), 2009
PMID: 19619317
Dual roles of the mammalian GARP complex in tethering and SNARE complex assembly at the trans-golgi network.
Pérez-Victoria FJ, Bonifacino JS., Mol Cell Biol 29(19), 2009
PMID: 19620288
Atorvastatin treatment attenuates motor neuron degeneration in wobbler mice.
Iwamoto K, Yoshii Y, Ikeda K., Amyotroph Lateral Scler 10(5-6), 2009
PMID: 19922131
Recombinant human TNF-binding protein-1 (rhTBP-1) treatment delays both symptoms progression and motor neuron loss in the wobbler mouse.
Bigini P, Repici M, Cantarella G, Fumagalli E, Barbera S, Cagnotto A, De Luigi A, Tonelli R, Bernardini R, Borsello T, Mennini T., Neurobiol Dis 29(3), 2008
PMID: 18201889
Structure of msj-1 gene in mice and humans: a possible role in the regulation of male reproduction.
Meccariello R, Berruti G, Chianese R, De Santis R, Di Cunto F, Scarpa D, Cobellis G, Zucchetti I, Pierantoni R, Altruda F, Fasano S., Gen Comp Endocrinol 156(1), 2008
PMID: 18184612
Requirement of the human GARP complex for mannose 6-phosphate-receptor-dependent sorting of cathepsin D to lysosomes.
Pérez-Victoria FJ, Mardones GA, Bonifacino JS., Mol Biol Cell 19(6), 2008
PMID: 18367545
Amyotrophic lateral sclerosis: Protein chaperone dysfunction revealed by proteomic studies of animal models.
Jain MR, Ge WW, Elkabes S, Li H., Proteomics - Clinical Applications 2(5), 2008
PMID: C1913
Amyotrophic lateral sclerosis: Protein chaperone dysfunction revealed by proteomic studies of animal models.
Jain MR, Ge WW, Elkabes S, Li H., Proteomics Clin Appl 2(5), 2008
PMID: 19578526
Differential sensitivity of mouse strains to an N-alkylated imino sugar: glycosphingolipid metabolism and acrosome formation.
van der Spoel AC, Mott R, Platt FM., Pharmacogenomics 9(6), 2008
PMID: 18518850
Evaluation of the Golgi trafficking protein VPS54 (wobbler) as a candidate for ALS.
Meisler MH, Russ C, Montgomery KT, Greenway M, Ennis S, Hardiman O, Figlewicz DA, Quenneville NR, Conibear E, Brown RH., Amyotroph Lateral Scler 9(3), 2008
PMID: 18574757
Hypertonia-associated protein Trak1 is a novel regulator of endosome-to-lysosome trafficking.
Webber E, Li L, Chin LS., J Mol Biol 382(3), 2008
PMID: 18675823
Carbamylated erythropoietin to treat neuronal injury: new development strategies.
Lapchak PA., Expert Opin Investig Drugs 17(8), 2008
PMID: 18616414
Progesterone modulates brain-derived neurotrophic factor and choline acetyltransferase in degenerating Wobbler motoneurons.
Gonzalez Deniselle MC, Garay L, Gonzalez S, Saravia F, Labombarda F, Guennoun R, Schumacher M, De Nicola AF., Exp Neurol 203(2), 2007
PMID: 17052708
Non-developmentally programmed cell death in Caenorhabditis elegans.
Kourtis N, Tavernarakis N., Semin Cancer Biol 17(2), 2007
PMID: 17196824
In vivo distribution and localization of chorein.
Kurano Y, Nakamura M, Ichiba M, Matsuda M, Mizuno E, Kato M, Agemura A, Izumo S, Sano A., Biochem Biophys Res Commun 353(2), 2007
PMID: 17188237
UBPy/MSJ-1 system during male germ cell progression in the frog, Rana esculenta.
Meccariello R, Chianese R, Scarpa D, Berruti G, Cobellis G, Pierantoni R, Fasano S., Gen Comp Endocrinol 153(1-3), 2007
PMID: 17187787
Spongiform neurodegeneration-associated E3 ligase Mahogunin ubiquitylates TSG101 and regulates endosomal trafficking.
Kim BY, Olzmann JA, Barsh GS, Chin LS, Li L., Mol Biol Cell 18(4), 2007
PMID: 17229889
Neuronal death: where does the end begin?
Conforti L, Adalbert R, Coleman MP., Trends Neurosci 30(4), 2007
PMID: 17339056
Transcription factor p53 in degenerating spinal cords.
Eve DJ, Dennis JS, Citron BA., Brain Res 1150(), 2007
PMID: 17434459
A missense mutation in the 3-ketodihydrosphingosine reductase FVT1 as candidate causal mutation for bovine spinal muscular atrophy.
Krebs S, Medugorac I, Röther S, Strässer K, Förster M., Proc Natl Acad Sci U S A 104(16), 2007
PMID: 17420465
Large-scale pathways-based association study in amyotrophic lateral sclerosis.
Kasperaviciute D, Weale ME, Shianna KV, Banks GT, Simpson CL, Hansen VK, Turner MR, Shaw CE, Al-Chalabi A, Pall HS, Goodall EF, Morrison KE, Orrell RW, Beck M, Jablonka S, Sendtner M, Brockington A, Ince PG, Hartley J, Nixon H, Shaw PJ, Schiavo G, Wood NW, Goldstein DB, Fisher EM., Brain 130(pt 9), 2007
PMID: 17439985
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.
Chow CY, Zhang Y, Dowling JJ, Jin N, Adamska M, Shiga K, Szigeti K, Shy ME, Li J, Zhang X, Lupski JR, Weisman LS, Meisler MH., Nature 448(7149), 2007
PMID: 17572665
Progesterone: therapeutic opportunities for neuroprotection and myelin repair.
Schumacher M, Guennoun R, Stein DG, De Nicola AF., Pharmacol Ther 116(1), 2007
PMID: 17659348
Alsin and the molecular pathways of amyotrophic lateral sclerosis.
Chandran J, Ding J, Cai H., Mol Neurobiol 36(3), 2007
PMID: 17955197
Snc1p v-SNARE transport to the prospore membrane during yeast sporulation is dependent on endosomal retrieval pathways.
Morishita M, Mendonsa R, Wright J, Engebrecht J., Traffic 8(9), 2007
PMID: 17645731
Defective axonal transport in motor neuron disease.
El-Kadi AM, Soura V, Hafezparast M., J Neurosci Res 85(12), 2007
PMID: 17265455
Lack of caspase-dependent apoptosis in spinal motor neurons of the wobbler mouse.
Bigini P, Atzori C, Fumagalli E, Cagnotto A, Barbera S, Migheli A, Mennini T., Neurosci Lett 426(2), 2007
PMID: 17890007
The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developments.
Mackenzie IR, Rademakers R., Neurogenetics 8(4), 2007
PMID: 17805587
Heterogeneity in motoneuron disease.
Lambrechts D, Robberecht W, Carmeliet P., Trends Neurosci 30(10), 2007
PMID: 17825438
Cell therapy and stem cells in animal models of motor neuron disorders.
Hedlund E, Hefferan MP, Marsala M, Isacson O., Eur J Neurosci 26(7), 2007
PMID: 17897390
Axonal degeneration in motor neuron disease.
Fischer LR, Glass JD., Neurodegener Dis 4(6), 2007
PMID: 17934327
Neurotrophin and Trk-mediated signaling in the neuromuscular system.
Pitts EV, Potluri S, Hess DM, Balice-Gordon RJ., Int Anesthesiol Clin 44(2), 2006
PMID: 16849956
Targets in ALS: designing multidrug therapies.
Carrì MT, Grignaschi G, Bendotti C., Trends Pharmacol Sci 27(5), 2006
PMID: 16690390
Nonhematopoietic erythropoietin derivatives prevent motoneuron degeneration in vitro and in vivo.
Mennini T, De Paola M, Bigini P, Mastrotto C, Fumagalli E, Barbera S, Mengozzi M, Viviani B, Corsini E, Marinovich M, Torup L, Van Beek J, Leist M, Brines M, Cerami A, Ghezzi P., Mol Med 12(7-8), 2006
PMID: 17088947
Cell death pathways differ in several mouse models with motoneurone disease: analysis of pure motoneurone populations at a presymptomatic age.
Perrin FE, Boisset G, Lathuilière A, Kato AC., J Neurochem 98(6), 2006
PMID: 16831193
Molecular biology of amyotrophic lateral sclerosis: insights from genetics.
Pasinelli P, Brown RH., Nat Rev Neurosci 7(9), 2006
PMID: 16924260
ALS: a disease of motor neurons and their nonneuronal neighbors.
Boillée S, Vande Velde C, Cleveland DW., Neuron 52(1), 2006
PMID: 17015226
Expression of AMPA and NMDA receptor subunits in the cervical spinal cord of wobbler mice.
Bigini P, Gardoni F, Barbera S, Cagnotto A, Fumagalli E, Longhi A, Corsi MM, Di Luca M, Mennini T., BMC Neurosci 7(), 2006
PMID: 17067377
Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD.
Momeni P, Schymick J, Jain S, Cookson MR, Cairns NJ, Greggio E, Greenway MJ, Berger S, Pickering-Brown S, Chiò A, Fung HC, Holtzman DM, Huey ED, Wassermann EM, Adamson J, Hutton ML, Rogaeva E, St George-Hyslop P, Rothstein JD, Hardiman O, Grafman J, Singleton A, Hardy J, Traynor BJ., BMC Neurol 6(), 2006
PMID: 17166276

15 References

Daten bereitgestellt von Europe PubMed Central.


DS, Mouse News Letters 15(), 1956
An hereditary motor neurone disease with progressive denervation of muscle in the mouse: the mutant 'wobbler'.
Duchen LW, Strich SJ., J. Neurol. Neurosurg. Psychiatry 31(6), 1968
PMID: 5709840
Defect of sperm assembly in a neurological mutant of the mouse, wobbler (WR).
Heimann P, Laage S, Jockusch H., Differentiation 47(2), 1991
PMID: 1955109
Wobbler, a mutation affecting motoneuron survival and gonadal functions in the mouse, maps to proximal chromosome 11.
Kaupmann K, Simon-Chazottes D, Guenet JL, Jockusch H., Genomics 13(1), 1992
PMID: 1349581
Comparative transcription map of the wobbler critical region on mouse chromosome 11 and the homologous region on human chromosome 2p13-14.
Fuchs S, Resch K, Thiel C, Ulbrich M, Platzer M, Jockusch H, Schmitt-John T., BMC Genet. 3(), 2002
PMID: 12174196
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. 209(3), 1997
PMID: 9215643
Genetic dissection of sperm individualization in Drosophila melanogaster.
Fabrizio JJ, Hime G, Lemmon SK, Bazinet C., Development 125(10), 1998
PMID: 9550716
Vps51p mediates the association of the GARP (Vps52/53/54) complex with the late Golgi t-SNARE Tlg1p.
Conibear E, Cleck JN, Stevens TH., Mol. Biol. Cell 14(4), 2003
PMID: 12686613
Identification, characterization and cytogenetic mapping of a yeast Vps54 homolog in rat and mouse.
Walter L, Stark S, Helou K, Flugge P, Levan G, Gunther E., Gene 285(1-2), 2002
PMID: 12039048
Characterization of the human GARP (Golgi associated retrograde protein) complex.
Liewen H, Meinhold-Heerlein I, Oliveira V, Schwarzenbacher R, Luo G, Wadle A, Jung M, Pfreundschuh M, Stenner-Liewen F., Exp. Cell Res. 306(1), 2005
PMID: 15878329
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.
Gissen P, Johnson CA, Morgan NV, Stapelbroek JM, Forshew T, Cooper WN, McKiernan PJ, Klomp LW, Morris AA, Wraith JE, McClean P, Lynch SA, Thompson RJ, Lo B, Quarrell OW, Di Rocco M, Trembath RC, Mandel H, Wali S, Karet FE, Knisely AS, Houwen RH, Kelly DA, Maher ER., Nat. Genet. 36(4), 2004
PMID: 15052268
Murine Hermansky-Pudlak syndrome genes: regulators of lysosome-related organelles.
Li W, Rusiniak ME, Chintala S, Gautam R, Novak EK, Swank RT., Bioessays 26(6), 2004
PMID: 15170859
The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.
Yang Y, Hentati A, Deng HX, Dabbagh O, Sasaki T, Hirano M, Hung WY, Ouahchi K, Yan J, Azim AC, Cole N, Gascon G, Yagmour A, Ben-Hamida M, Pericak-Vance M, Hentati F, Siddique T., Nat. Genet. 29(2), 2001
PMID: 11586297
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.
Nishimura AL, Mitne-Neto M, Silva HC, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JR, Gillingwater T, Webb J, Skehel P, Zatz M., Am. J. Hum. Genet. 75(5), 2004
PMID: 15372378
Murine motor neuron disease (the wobbler mouse): degeneration and regeneration of the lower motor neuron.
Mitsumoto H, Bradley WG., Brain 105 (Pt 4)(), 1982
PMID: 7139256
Export

Markieren/ Markierung löschen
Markierte Publikationen

Open Data PUB

Web of Science

Dieser Datensatz im Web of Science®
Quellen

PMID: 16244655
PubMed | Europe PMC

Suchen in

Google Scholar