Is SOD1 loss of function involved in amyotrophic lateral sclerosis?

SOD1 Integrates Signals from Oxygen and Glucose to Repress Respiration

(2013) Amit R. Reddi et al.   CELL

An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study

(2013) Timothy M Miller et al.   LANCET NEUROLOGY

Antisense makes sense for amyotrophic lateral sclerosis

(2013) Pietro Fratta   LANCET NEUROLOGY

Novel G37V mutation of SOD1 gene in autopsied patient with familial amyotrophic lateral sclerosis

(2012) Junpei Kobayashi et al.   Amyotrophic Lateral Sclerosis

Trauma and amyotrophic lateral sclerosis: a case-control study from a population-based registry

(2012) E. Pupillo et al.   EUROPEAN JOURNAL OF NEUROLOGY

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

(2012) Matthis Synofzik et al.   HUMAN MOLECULAR GENETICS

Expression of wild-type human superoxide dismutase-1 in mice causes amyotrophic lateral sclerosis

(2012) K. S. Graffmo et al.   HUMAN MOLECULAR GENETICS

Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase

(2012) Peter Huppke et al.   HUMAN MUTATION

Spinal cord trauma and the molecular point of no return

(2012) Ping K Yip et al.   Molecular Neurodegeneration

Selective knockdown of mutant SOD1 in Schwann cells ameliorates disease in G85R mutant SOD1 transgenic mice

(2012) Lijun Wang et al.   NEUROBIOLOGY OF DISEASE

“Huntingtin Holiday”: Progress toward an Antisense Therapy for Huntington's Disease

(2012) Xiao-Hong Lu et al.   NEURON

Sustained Therapeutic Reversal of Huntington's Disease by Transient Repression of Huntingtin Synthesis

(2012) Holly B. Kordasiewicz et al.   NEURON

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

(2012) Edward Pokrishevsky et al.   PLoS One

An over-oxidized form of superoxide dismutase found in sporadic amyotrophic lateral sclerosis with bulbar onset shares a toxic mechanism with mutant SOD1

(2012) S. Guareschi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Skeletal muscle weakness due to deficiency of CuZn-superoxide dismutase is associated with loss of functional innervation

(2011) Lisa M. Larkin et al.   AMERICAN JOURNAL OF PHYSIOLOGY-REGULATORY INTEGRATIVE AND COMPARATIVE PHYSIOLOGY

A novel SOD1 mutation in amyotrophic lateral sclerosis with a distinct clinical phenotype

(2011) Jun Hu et al.   Amyotrophic Lateral Sclerosis

A comprehensive assessment of the SOD1G93A low-copy transgenic mouse, which models human amyotrophic lateral sclerosis

(2011) A. Acevedo-Arozena et al.   Disease Models & Mechanisms

Absence of SOD1 leads to oxidative stress in peripheral nerve and causes a progressive distal motor axonopathy

(2011) Lindsey R. Fischer et al.   EXPERIMENTAL NEUROLOGY

Phenylalanine hydroxylase deficiency

(2011) John J. Mitchell et al.   GENETICS IN MEDICINE

Mitochondrial dysfunction in familial amyotrophic lateral sclerosis

(2011) Liesbeth Faes et al.   JOURNAL OF BIOENERGETICS AND BIOMEMBRANES

Epigenetic Regulation of Motor Neuron Cell Death through DNA Methylation

(2011) B. A. Chestnut et al.   JOURNAL OF NEUROSCIENCE

SOD1 and TDP-43 animal models of amyotrophic lateral sclerosis: recent advances in understanding disease toward the development of clinical treatments

(2011) Peter I. Joyce et al.   MAMMALIAN GENOME

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

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

An ALS-associated mutation affecting TDP-43 enhances protein aggregation, fibril formation and neurotoxicity

(2011) Weirui Guo et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Superoxide dismutase 1 (SOD1) is a target for a small molecule identified in a screen for inhibitors of the growth of lung adenocarcinoma cell lines

(2011) R. Somwar et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Prion-like propagation of mutant superoxide dismutase-1 misfolding in neuronal cells

(2011) Christian Münch et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Current hypotheses for the underlying biology of amyotrophic lateral sclerosis

(2010) Jeffrey D. Rothstein   ANNALS OF NEUROLOGY

SOD1 targeted to the mitochondrial intermembrane space prevents motor neuropathy in the Sod1 knockout mouse

(2010) Lindsey R. Fischer et al.   BRAIN

Superoxide dismutase 1 knockdown induces oxidative stress and DNA methylation loss in the prostate

(2010) Sachin S. Bhusari et al.   Epigenetics

Mitochondrial dysfunction and pathophysiology of Charcot–Marie–Tooth disease involving GDAP1 mutations

(2010) Julien Cassereau et al.   EXPERIMENTAL NEUROLOGY

Advanced age-related denervation and fiber-type grouping in skeletal muscle of SOD1 knockout mice

(2010) Tatiana Y. Kostrominova   FREE RADICAL BIOLOGY AND MEDICINE

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

(2010) Anna Birve et al.   HUMAN MOLECULAR GENETICS

Stathmin, a microtubule-destabilizing protein, is dysregulated in spinal muscular atrophy†

(2010) Hsin-Lan Wen et al.   HUMAN MOLECULAR GENETICS

An examination of wild-type SOD1 in modulating the toxicity and aggregation of ALS-associated mutant SOD1

(2010) Mercedes Prudencio et al.   HUMAN MOLECULAR GENETICS

Astrocyte loss of mutant SOD1 delays ALS disease onset and progression in G85R transgenic mice

(2010) L. Wang et al.   HUMAN MOLECULAR GENETICS

Rapid Communication: Cu/Zn Superoxide Dismutase Activity in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2010) Wim Robberecht et al.   JOURNAL OF NEUROCHEMISTRY

Mutant SOD1 knockdown in all cell types ameliorates disease in G85R SOD1 mice with a limited additional effect over knockdown restricted to motor neurons

(2010) Lijun Wang et al.   JOURNAL OF NEUROCHEMISTRY

Neuroprotection by Gene Therapy Targeting Mutant SOD1 in Individual Pools of Motor Neurons Does not Translate Into Therapeutic Benefit in fALS Mice

(2010) Chris Towne et al.   MOLECULAR THERAPY

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

(2010) Daryl A Bosco et al.   NATURE NEUROSCIENCE

An autopsied case of sporadic adult-onset amyotrophic lateral sclerosis with FUS-positive basophilic inclusions

(2010) Takeshi Matsuoka et al.   NEUROPATHOLOGY

Review: Neuromuscular synaptic vulnerability in motor neurone disease: amyotrophic lateral sclerosis and spinal muscular atrophy

(2010) L. M. Murray et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Molecular Mechanisms and Potential Therapeutical Targets in Huntington's Disease

(2010) Chiara Zuccato et al.   PHYSIOLOGICAL REVIEWS

Superoxide Dismutase 1 and tgSOD1G93A Mouse Spinal Cord Seed Fibrils, Suggesting a Propagative Cell Death Mechanism in Amyotrophic Lateral Sclerosis

(2010) Ruth Chia et al.   PLoS One

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

(2010) Karin Forsberg et al.   PLoS One

Partial Loss of Ataxin-1 Function Contributes to Transcriptional Dysregulation in Spinocerebellar Ataxia Type 1 Pathogenesis

(2010) Juan Crespo-Barreto et al.   PLoS Genetics

Oxidative stress induced by loss of Cu,Zn-superoxide dismutase (SOD1) or superoxide-generating herbicides causes axonal degeneration in mouse DRG cultures

(2009) Lindsey R. Fischer et al.   ACTA NEUROPATHOLOGICA

Rethinking ALS: The FUS about TDP-43

(2009) Clotilde Lagier-Tourenne et al.   CELL

Intracellular amyloid beta interacts with SOD1 and impairs the enzymatic activity of SOD1: implications for the pathogenesis of amyotrophic lateral sclerosis

(2009) Eun Jin Yoon et al.   EXPERIMENTAL AND MOLECULAR MEDICINE

Increased superoxide in vivo accelerates age-associated muscle atrophy through mitochondrial dysfunction and neuromuscular junction degeneration

(2009) Youngmok C. Jang et al.   FASEB JOURNAL

Oxidative stress in ALS: Key role in motor neuron injury and therapeutic target

(2009) Siân C. Barber et al.   FREE RADICAL BIOLOGY AND MEDICINE

Dismutase-competent SOD1 mutant accumulation in myelinating Schwann cells is not detrimental to normal or transgenic ALS model mice

(2009) B. J. Turner 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

Modifications of Superoxide Dismutase (SOD1) in Human Erythrocytes

(2009) Kyle C. Wilcox et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Non–cell autonomous toxicity in neurodegenerative disorders: ALS and beyond

(2009) Hristelina Ilieva et al.   JOURNAL OF CELL BIOLOGY

Mitochondrial Alterations in Transgenic Mice With an H46R Mutant Cu/Zn Superoxide Dismutase Gene

(2009) Shoichi Sasaki et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Mitochondrial dysfunction in a neural cell model of spinal muscular atrophy

(2009) Gyula Acsadi et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Measurement of superoxide dismutase, catalase and glutathione peroxidase in cultured cells and tissue

(2009) Christine J Weydert et al.   Nature Protocols

Redox susceptibility of SOD1 mutants is associated with the differential response to CCS over-expression in vivo

(2009) Marjatta Son et al.   NEUROBIOLOGY OF DISEASE

The effect of mutant SOD1 dismutase activity on non-cell autonomous degeneration in familial amyotrophic lateral sclerosis

(2009) Lijun Wang et al.   NEUROBIOLOGY OF DISEASE

A mechanism for low penetrance in an ALS family with a novel SOD1 deletion

(2009) L. Zinman et al.   NEUROLOGY

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

Schwann cells expressing dismutase active mutant SOD1 unexpectedly slow disease progression in ALS mice

(2009) C. S. Lobsiger et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Oxidative stress biomarkers in sporadic ALS

(2008) Hiroshi Mitsumoto et al.   Amyotrophic Lateral Sclerosis

50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis

(2008) Wendy J. Broom et al.   Amyotrophic Lateral Sclerosis

Inclusions of amyotrophic lateral sclerosis-linked superoxide dismutase in ventral horns, liver, and kidney

(2008) P. Andreas Jonsson et al.   ANNALS OF NEUROLOGY

The two faces of protein misfolding: gain- and loss-of-function in neurodegenerative diseases

(2008) Konstanze F Winklhofer et al.   EMBO JOURNAL

Biological effects of CCS in the absence of SOD1 enzyme activation: implications for disease in a mouse model for ALS

(2008) Jody B. Proescher et al.   HUMAN MOLECULAR GENETICS

Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1

(2008) Janghoo Lim et al.   NATURE

Transgenics, toxicity and therapeutics in rodent models of mutant SOD1-mediated familial ALS

(2008) B TURNER et al.   PROGRESS IN NEUROBIOLOGY

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE