Literature DB >> 16244655

Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse.

Thomas Schmitt-John1, Carsten Drepper, Anke Mussmann, Phillip Hahn, Melanie Kuhlmann, Cora Thiel, Martin Hafner, Andreas Lengeling, Peter Heimann, Julie M Jones, Miriam H Meisler, Harald Jockusch.   

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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Year:  2005        PMID： 16244655     DOI： 10.1038/ng1661

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  90 in total

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Journal:  Mol Med       Date:  2012-05-09       Impact factor: 6.354

2.  Acrosome biogenesis: Revisiting old questions to yield new insights.

Authors:  Giovanna Berruti; Chiara Paiardi
Journal:  Spermatogenesis       Date:  2011-04

Review 3.  Spinal muscular atrophy: new and emerging insights from model mice.

Authors:  Gyu-Hwan Park; Shingo Kariya; Umrao R Monani
Journal:  Curr Neurol Neurosci Rep       Date:  2010-03       Impact factor: 5.081

Review 4.  Transport according to GARP: receiving retrograde cargo at the trans-Golgi network.

Authors:  Juan S Bonifacino; Aitor Hierro
Journal:  Trends Cell Biol       Date:  2010-12-21       Impact factor: 20.808

5.  Spongiform neurodegeneration-associated E3 ligase Mahogunin ubiquitylates TSG101 and regulates endosomal trafficking.

Authors:  Bong Yoon Kim; James A Olzmann; Gregory S Barsh; Lih-Shen Chin; Lian Li
Journal:  Mol Biol Cell       Date:  2007-01-17       Impact factor: 4.138

6.  Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.

Authors:  Clement Y Chow; Yanling Zhang; James J Dowling; Natsuko Jin; Maja Adamska; Kensuke Shiga; Kinga Szigeti; Michael E Shy; Jun Li; Xuebao Zhang; James R Lupski; Lois S Weisman; Miriam H Meisler
Journal:  Nature       Date:  2007-06-17       Impact factor: 49.962

7.  Increased ROS Level in Spinal Cord of Wobbler Mice due to Nmnat2 Downregulation.

Authors:  Pascal Röderer; Lara Klatt; Felix John; Verena Theis; Konstanze F Winklhofer; Carsten Theiss; Veronika Matschke
Journal:  Mol Neurobiol       Date:  2018-03-16       Impact factor: 5.590

8.  Genetic correction of human induced pluripotent stem cells from patients with spinal muscular atrophy.

Authors:  Stefania Corti; Monica Nizzardo; Chiara Simone; Marianna Falcone; Martina Nardini; Dario Ronchi; Chiara Donadoni; Sabrina Salani; Giulietta Riboldi; Francesca Magri; Giorgia Menozzi; Clara Bonaglia; Federica Rizzo; Nereo Bresolin; Giacomo P Comi
Journal:  Sci Transl Med       Date:  2012-12-19       Impact factor: 17.956

Review 9.  The Role of Sex and Sex Hormones in Neurodegenerative Diseases.

Authors:  Elisabetta Vegeto; Alessandro Villa; Sara Della Torre; Valeria Crippa; Paola Rusmini; Riccardo Cristofani; Mariarita Galbiati; Adriana Maggi; Angelo Poletti
Journal:  Endocr Rev       Date:  2020-04-01       Impact factor: 19.871

Review 10.  Mouse models of mitochondrial complex I dysfunction.

Authors:  Michael H Irwin; Kodeeswaran Parameshwaran; Carl A Pinkert
Journal:  Int J Biochem Cell Biol       Date:  2012-08-10       Impact factor: 5.085
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