Inherited neuropathies: new genes don't fit old models.
Mutations in GARS cause dominantly inherited neuropathies in humans. GARS encodes glycyl-tRNA synthetase, the enzyme that couples glycine to its tRNA. In this issue of Neuron, Seburn et al. have identified and characterized a mutant mouse with a dominantly inherited axonal neuropathy caused by a Gars mutation that is inferred to have a gain of function.
Scherer
Steven S
SS
Department of Neurology, 464 Stemmler Hall, University of Pennsylvania School of Medicine, Philadelphia, 19104, USA.
D000818:Animals; D001369:Axons / Q000378:metabolism / Q000473:pathology; D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000201:enzymology / Q000235:genetics*; D004195:Disease Models, Animal; D005799:Genes, Dominant / Q000235:genetics; D006032:Glycine-tRNA Ligase / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D051379:Mice; D009154:Mutation / Q000235:genetics*; D009469:Neuromuscular Junction / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D010523:Peripheral Nervous System Diseases / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D012584:Sciatic Nerve / Q000378:metabolism / Q000473:pathology
D006032:Glycine-tRNA Ligase