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

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 β-geo . Motoneuron surv...

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Veröffentlicht in:	Nature genetics 2005-11, Vol.37 (11), p.1213-1215
Hauptverfasser:	Schmitt-John, Thomas, Drepper, Carsten, Mußmann, Anke, Hahn, Phillip, Kuhlmann, Melanie, Thiel, Cora, Hafner, Martin, Lengeling, Andreas, Heimann, Peter, Jones, Julie M, Meisler, Miriam H, Jockusch, Harald
Format:	Artikel
Sprache:	eng
Schlagworte:	Agriculture Amino Acid Sequence Amyotrophic Lateral Sclerosis - genetics Animal Genetics and Genomics Animal models Animals Biological and medical sciences Biomedical and Life Sciences Biomedicine brief-communication Cancer Research Cerebrospinal fluid. Meninges. Spinal cord Chromosomes, Artificial, Bacterial Cloning, Molecular Complications and side effects Diagnosis Female Fundamental and applied biological sciences. Psychology Gene Function Gene mutations Genetic disorders Genetics of eukaryotes. Biological and molecular evolution Human Genetics Male Medical sciences Mice Mice, Inbred C57BL Mice, Neurologic Mutants Mice, Transgenic Molecular Sequence Data Motor Neuron Disease - genetics Motor Neuron Disease - pathology Mutation Mutation, Missense - genetics Nervous system (semeiology, syndromes) Neurology Risk factors Sequence Homology, Amino Acid Spermatogenesis - genetics Vesicular Transport Proteins - genetics
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