Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS

A novel variant of human superoxide dismutase 1 harboring amyotrophic lateral sclerosis-associated and experimental mutations in metal-binding residues and free cysteines lacks toxicity in vivo

(2012) Mercedes Prudencio et al.   JOURNAL OF NEUROCHEMISTRY

Aberrant Localization of FUS and TDP43 Is Associated with Misfolding of SOD1 in Amyotrophic Lateral Sclerosis

(2012) Edward Pokrishevsky et al.   PLoS One

Glial nuclear aggregates of superoxide dismutase-1 are regularly present in patients with amyotrophic lateral sclerosis

(2011) Karin Forsberg et al.   ACTA NEUROPATHOLOGICA

The Seeds of Neurodegeneration: Prion-like Spreading in ALS

(2011) Magdalini Polymenidou et al.   CELL

Misfolded superoxide dismutase-1 in CSF from amyotrophic lateral sclerosis patients

(2011) Per Zetterström et al.   JOURNAL OF NEUROCHEMISTRY

Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

(2011) Peter M. Andersen et al.   Nature Reviews Neurology

A novel SOD1 splice site mutation associated with familial ALS revealed by SOD activity analysis

(2010) Anna Birve et al.   HUMAN MOLECULAR GENETICS

SOD1 Mutations Targeting Surface Hydrogen Bonds Promote Amyotrophic Lateral Sclerosis without Reducing Apo-state Stability

(2010) Roberth Byström et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS

(2010) Daryl A Bosco et al.   NATURE NEUROSCIENCE

Novel Antibodies Reveal Inclusions Containing Non-Native SOD1 in Sporadic ALS Patients

(2010) Karin Forsberg et al.   PLoS One

Variation in aggregation propensities among ALS-associated variants of SOD1: Correlation to human disease

(2009) Mercedes Prudencio et al.   HUMAN MOLECULAR GENETICS

Wild-type SOD1 overexpression accelerates disease onset of a G85R SOD1 mouse

(2009) L. Wang et al.   HUMAN MOLECULAR GENETICS

TDP-43 is consistently co-localized with ubiquitinated inclusions in sporadic and Guam amyotrophic lateral sclerosis but not in familial amyotrophic lateral sclerosis with and without SOD1 mutations

(2009) Satomi Maekawa et al.   NEUROPATHOLOGY

Neuron-Specific Expression of Mutant Superoxide Dismutase Is Sufficient to Induce Amyotrophic Lateral Sclerosis in Transgenic Mice

(2008) D. Jaarsma et al.   JOURNAL OF NEUROSCIENCE