Regular ArticleGenetic Mapping of a Mouse Modifier Gene That Can Prevent ALS Onset
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Cited by (58)
Differences in protein quality control correlate with phenotype variability in 2 mouse models of familial amyotrophic lateral sclerosis
2015, Neurobiology of AgingCitation Excerpt :This failed translation can be attributed to several different factors as reported in the guidelines for preclinical research in ALS and/or motor neuron disease (Ludolph et al., 2007, 2010) including the phenotypic variability between individuals. As in human ALS, the mutant SOD1 mouse models may vary in terms of age of onset, disease progression, and certain histopathologic features (Kunst et al., 2000; Pan et al., 2012) even if they carry the same mutation, for example, SOD1G93A. Indeed, it has been reported by several groups, including the Jackson Laboratory, that the disease duration and survival of SOD1G93A mice are affected by their genetic background (Heiman-Patterson et al., 2005, 2011; Mancuso et al., 2012).
Copper-zinc superoxide dismutase-deficient mice show increased susceptibility to experimental autoimmune encephalomyelitis induced with myelin oligodendrocyte glycoprotein 35-55
2013, Journal of NeuroimmunologyCitation Excerpt :Being a cytosolic protein, SOD1 plays a critical role in scavenging ROS. In particular, O2− and allelic variations in SOD1 have been implicated in disease conditions such as amyotrophic lateral sclerosis and diabetic nephropathy in type I diabetes (Kunst et al., 2000; Mohammedi et al., 2011). Although mice deficient for SOD1 develop normally, they show degenerative changes in the cochlear ganglion and retinal nerve, as well as progressive motor axonopathy leading to muscular dystrophy as a result of excessive ROS production, and females show reproductive defects (Matzuk et al., 1998; Keithley et al., 2005; Fischer et al., 2012).
Genetic modifiers of neurological disease
2011, Current Opinion in Genetics and DevelopmentGenetic background and gender effects on gross phenotypes in congenic lines of ALS2/alsin-deficient mice
2010, Neuroscience ResearchA cellular perspective on conformational disease: the role of genetic background and proteostasis networks
2010, Current Opinion in Structural BiologySurvival motor neuron deficiency enhances progression in an amyotrophic lateral sclerosis mouse model
2009, Neurobiology of DiseaseCitation Excerpt :In addition, both transgenic SOD1G86R and SOD1G93A mouse models of ALS show modification of disease severity on different background strains (Kunst et al., 2000; Heiman-Patterson et al., 2005). Genetic studies of the SOD1G86R mouse mapped the major modifying locus to a 5–8 cM interval encompassing the Smn locus (Kunst et al., 2000), implicating SMN expression as a factor in disease severity. Furthermore, SMN expression was altered in cell lines expressing mutant SOD1 (Kirby et al., 2005) while overexpression of wild-type SMN, but not functionally null isoforms, protected against mutant SOD1A4V or SOD1G93A induced toxicity in cell culture (Zou et al., 2007).
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