Skeletal Muscle-Restricted Expression of Human SOD1 in Transgenic Mice Causes a Fatal ALS-Like Syndrome

DNA damage accumulates and responses are engaged in human ALS brain and spinal motor neurons and DNA repair is activatable in iPSC-derived motor neurons with SOD1 mutations

(2020) Byung Woo Kim et al.   Acta Neuropathologica Communications

Spinal cord hypermetabolism extends to skeletal muscle in amyotrophic lateral sclerosis: a computational approach to [18F]-fluorodeoxyglucose PET/CT images

(2020) Matteo Bauckneht et al.   EJNMMI Research

Does wild-type Cu/Zn-superoxide dismutase have pathogenic roles in amyotrophic lateral sclerosis?

(2020) Yoshiaki Furukawa et al.   Translational Neurodegeneration

Risk Factors and Emerging Therapies in Amyotrophic Lateral Sclerosis

(2019) Natalia Nowicka et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Mechanisms of SOD1 regulation by post-translational modifications

(2019) C.J. Banks et al.   Redox Biology

Metabolic Alteration and Amyotrophic Lateral Sclerosis Outcome: A Systematic Review

(2019) Mariana Dutra Brito et al.   Frontiers in Neurology

Muscle Expression of SOD1G93A Triggers the Dismantlement of Neuromuscular Junction via PKC-Theta

(2018) Gabriella Dobrowolny et al.   ANTIOXIDANTS & REDOX SIGNALING

Paradox of amyotrophic lateral sclerosis and energy metabolism

(2018) Rebekah M Ahmed et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Hypermetabolism in ALS is associated with greater functional decline and shorter survival

(2018) Frederik J Steyn et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Neuromuscular Junction Dismantling in Amyotrophic Lateral Sclerosis

(2017) Valentina Cappello et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

ALS Clinical Trials Review: 20 Years of Failure. Are We Any Closer to Registering a New Treatment?

(2017) Dmitry Petrov et al.   Frontiers in Aging Neuroscience

Adipokines, C-reactive protein and Amyotrophic Lateral Sclerosis – results from a population- based ALS registry in Germany

(2017) Gabriele Nagel et al.   Scientific Reports

DNA Damage Response and DNA Repair in Skeletal Myocytes From a Mouse Model of Spinal Muscular Atrophy

(2016) Saniya Fayzullina et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Skeletal Muscle Regulates Metabolism via Interorgan Crosstalk: Roles in Health and Disease

(2016) Josep M. Argilés et al.   Journal of the American Medical Directors Association

A metabolic switch toward lipid use in glycolytic muscle is an early pathologic event in a mouse model of amyotrophic lateral sclerosis

(2015) L. Palamiuc et al.   EMBO Molecular Medicine

Effect of Presymptomatic Body Mass Index and Consumption of Fat and Alcohol on Amyotrophic Lateral Sclerosis

(2015) Mark H. B. Huisman et al.   JAMA Neurology

Skeletal Muscle DNA Damage Precedes Spinal Motor Neuron DNA Damage in a Mouse Model of Spinal Muscular Atrophy (SMA)

(2014) Saniya Fayzullina et al.   PLoS One

GNX-4728, a novel small molecule drug inhibitor of mitochondrial permeability transition, is therapeutic in a mouse model of amyotrophic lateral sclerosis

(2014) Lee J. Martin et al.   Frontiers in Cellular Neuroscience

Superoxide dismutase 1 acts as a nuclear transcription factor to regulate oxidative stress resistance

(2014) Chi Kwan Tsang et al.   Nature Communications

Detection and Analysis of DNA Damage in Mouse Skeletal Muscle In Situ Using the TUNEL Method

(2014) Saniya Fayzullina et al.   Jove-Journal of Visualized Experiments

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

(2013) David N. Cooper et al.   HUMAN GENETICS

Hypolipidemia in Patients with Amyotrophic Lateral Sclerosis: A Possible Gender Difference?

(2013) Ji Won Yang et al.   Journal of Clinical Neurology

Prediagnostic body fat and risk of death from amyotrophic lateral sclerosis: The EPIC cohort

(2013) V. Gallo et al.   NEUROLOGY

Adipose Tissue Distribution Predicts Survival in Amyotrophic Lateral Sclerosis

(2013) Eva Lindauer et al.   PLoS One

Mitochondrial DNMT3A and DNA methylation in skeletal muscle and CNS of transgenic mouse models of ALS

(2013) Margaret Wong et al.   Frontiers in Cellular Neuroscience

An emerging role for misfolded wild-type SOD1 in sporadic ALS pathogenesis

(2013) Melissa S. Rotunno et al.   Frontiers in Cellular Neuroscience

Cellular Prion Protein Regulates Its Own α-Cleavage through ADAM8 in Skeletal Muscle

(2012) Jingjing Liang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Nuclear Localization of Human SOD1 and Mutant SOD1-Specific Disruption of Survival Motor Neuron Protein Complex in Transgenic Amyotrophic Lateral Sclerosis Mice

(2012) Barry Gertz et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Expression of the inclusion body myopathy 3 mutation in Drosophila depresses myosin function and stability and recapitulates muscle inclusions and weakness

(2012) Yang Wang et al.   MOLECULAR BIOLOGY OF THE CELL

The Mitochondrial Permeability Transition Pore Regulates Nitric Oxide-Mediated Apoptosis of Neurons Induced by Target Deprivation

(2011) L. J. Martin et al.   JOURNAL OF NEUROSCIENCE

An Approach to Experimental Synaptic Pathology Using Green Fluorescent Protein-Transgenic Mice and Gene Knockout Mice to Show Mitochondrial Permeability Transition Pore-Driven Excitotoxicity in Interneurons and Motoneurons

(2011) Lee J. Martin   TOXICOLOGIC PATHOLOGY

Skeletal muscle-restricted expression of human SOD1 causes motor neuron degeneration in transgenic mice

(2010) Margaret Wong et al.   HUMAN MOLECULAR GENETICS

Physical fitness, but not muscle strength, is a risk factor for death in amyotrophic lateral sclerosis at an early age

(2010) Peter Mattsson et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

(2010) Daryl A Bosco et al.   NATURE NEUROSCIENCE

Inducible nitric oxide synthase is present in motor neuron mitochondria and Schwann cells and contributes to disease mechanisms in ALS mice

(2009) Kevin Chen et al.   Brain Structure & Function

Diet and Amyotrophic Lateral Sclerosis

(2009) Natalia Morozova et al.   EPIDEMIOLOGY

Muscle Mitochondrial Uncoupling Dismantles Neuromuscular Junction and Triggers Distal Degeneration of Motor Neurons

(2009) Luc Dupuis et al.   PLoS One

Brown Fat and Skeletal Muscle: Unlikely Cousins?

(2008) Stephen R. Farmer   CELL

Skeletal Muscle Is a Primary Target of SOD1G93A-Mediated Toxicity

(2008) Gabriella Dobrowolny et al.   Cell Metabolism

Mechano-growth factor, an IGF-I splice variant, rescues motoneurons and improves muscle function in SOD1G93A mice

(2008) Joanna Riddoch-Contreras et al.   EXPERIMENTAL NEUROLOGY

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

Ablation of Proliferating Microglia Does Not Affect Motor Neuron Degeneration in Amyotrophic Lateral Sclerosis Caused by Mutant Superoxide Dismutase

(2008) G. Gowing et al.   JOURNAL OF NEUROSCIENCE

Amyotrophic lateral sclerosis linked to a novel SOD1 mutation with muscle mitochondrial dysfunction

(2008) Stefania Corti et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Restricted expression of mutant SOD1 in spinal motor neurons and interneurons induces motor neuron pathology

(2007) Lijun Wang et al.   NEUROBIOLOGY OF DISEASE