Single copy/knock-in models of ALS SOD1 in C. elegans suggest loss and gain of function have different contributions to cholinergic and glutamatergic neurodegeneration [PDF]
, 2018 Mutations in Cu/Zn superoxide dismutase 1 (SOD1) lead to Amyotrophic Lateral Sclerosis (ALS), a neurodegenerative disease that disproportionately affects glutamatergic and cholinergic motor neurons.
Baskoylu, Saba N +10 more
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Cell Death Discovery, 2023 Nogo–Nogo receptor 1 (NgR1) signaling is significantly implicated in neurodegeneration in amyotrophic lateral sclerosis (ALS). We previously showed that lateral olfactory tract usher substance (LOTUS) is an endogenous antagonist of NgR1 that prevents all
Takuya Ikeda +14 more
doaj +1 more source
R-loop Mediated DNA Damage and Impaired DNA Repair in Spinal Muscular Atrophy
Frontiers in Cellular Neuroscience, 2022 Defects in DNA repair pathways are a major cause of DNA damage accumulation leading to genomic instability and neurodegeneration. Efficient DNA damage repair is critical to maintain genomicstability and support cell function and viability.
Juliana Cuartas +2 more
doaj +1 more source
Viral delivery of antioxidant genes as a therapeutic strategy in experimental models of amyotrophic lateral sclerosis. [PDF]
, 2013 Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder with no effective treatment to date. Despite its multi-factorial aetiology, oxidative stress is hypothesized to be one of the key pathogenic mechanisms.
Azzouz, M +6 more
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Skeletal muscle DNA damage precedes spinal motor neuron DNA damage in a mouse model of Spinal Muscular Atrophy (SMA). [PDF]
PLoS ONE, 2014 Spinal Muscular Atrophy (SMA) is a hereditary childhood disease that causes paralysis by progressive degeneration of skeletal muscles and spinal motor neurons.
Saniya Fayzullina, Lee J Martin
doaj +1 more source
WDR79/TCAB1 plays a conserved role in the control of locomotion and ameliorates phenotypic defects in SMA models [PDF]
, 2017 SMN (Survival Motor Neuron) deficiency is the predominant cause of spinal muscular atrophy (SMA), a severe neurodegenerative disorder that can lead to progressive paralysis and death.
Bavasso, Francesca +11 more
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Degeneration and impaired regeneration of gray matter oligodendrocytes in amyotrophic lateral sclerosis. [PDF]
, 2013 Oligodendrocytes associate with axons to establish myelin and provide metabolic support to neurons. In the spinal cord of amyotrophic lateral sclerosis (ALS) mice, oligodendrocytes downregulate transporters that transfer glycolytic substrates to neurons ...
Bergles, Dwight E +7 more
core +2 more sources
Disease Models & Mechanisms, 2016 Spinal muscular atrophy (SMA), characterized by specific degeneration of spinal motor neurons, is caused by mutations in the survival of motor neuron 1, telomeric (SMN1) gene and subsequent decreased levels of functional SMN. How the deficiency of SMN, a
Chong-Chong Xu +4 more
doaj +1 more source
Iron insufficiency compromises motor neurons and their mitochondrial function in Irp2-null mice. [PDF]
PLoS ONE, 2011 Genetic ablation of Iron Regulatory Protein 2 (Irp2, Ireb2), which post-transcriptionally regulates iron metabolism genes, causes a gait disorder in mice that progresses to hind-limb paralysis.
Suh Young Jeong +9 more
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Altered Metabolic Profiles Associate with Toxicity in SOD1G93A Astrocyte-Neuron Co-Cultures
Scientific Reports, 2017 Non-cell autonomous processes involving astrocytes have been shown to contribute to motor neuron degeneration in amyotrophic lateral sclerosis. Mutant superoxide dismutase 1 (SOD1G93A) expression in astrocytes is selectively toxic to motor neurons in co ...
Gabriel N. Valbuena +4 more
doaj +1 more source