as superoxide dismutase 1 or hSod1 is an enzyme that in humans is encoded by the SOD1 gene, located on chromosome 21. SOD1 is one of three human superoxide...

Within these, about 20–25% are linked to the SOD1 mutation. It is not currently known if and how the decreased SOD1 activity contributes to Progressive Bulbar...

superoxide dismutase present in humans, in all other mammals, and most chordates. SOD1 is located in the cytoplasm, SOD2 in the mitochondria, and SOD3 is extracellular...

sclerosis (ALS) associated with a mutation in the superoxide dismutase 1 (SOD1) gene (SOD1-ALS). Tofersen was developed by Ionis Pharmaceuticals and was licensed...

TDP-43 protein; however, in those with SOD1 or FUS mutations, the main component of the inclusion bodies is SOD1 protein or FUS protein, respectively....

is not clear exactly how many repeat units are needed to cause disease. SOD1, which codes for superoxide dismutase 1, is the second most common gene associated...

dog, though the disorder is strongly associated with a gene mutation in SOD1 that has been found in 43 breeds as of 2008, including the wire fox terrier...

(SOD1). Knockout of the Sod1 gene was experimentally introduced in male mice leading to impaired antioxidant defense. These mice were designated (Sod1-/-)...

Dokholyan determined the SOD1 aggregation pathway, and highlighted the occurrence of familial amyotrophic lateral sclerosis-linked SOD1 aggregation due to a...

Location of the SOD1 gene on chromosome 21 in humans...

sclerosis involved protein SOD1, excited intermediates were studied with relaxation dispersion and Saturation transfer. SOD1 had been previously tied to...

including protozoa. It has also been found to reduce the expression of SOD1, a key protein involved in amyotrophic lateral sclerosis. Pyrimethamine is...

myelopathy. The condition is caused by an autosomal recessive mutation in the SOD1 gene. Hypothyroidism is a growing problem in the Rhodesian Ridgeback, and...

responsible for diseases such as Epidermolysis bullosa, sickle-cell disease, and SOD1-mediated ALS. On the other hand, if a missense mutation occurs in an amino...

also helps to increase the numbers of motor neurons in the spinal cord of SOD1 mice (a mouse model used in the study of amyotrophic lateral sclerosis)....

metalloprotein that is responsible for the delivery of Cu to superoxide dismutase (SOD1). CCS is a 54kDa protein that is present in mammals and most eukaryotes including...

studies ranging from a prevalence of 13.91% to 26%. An allele of the SOD1 gene: SOD1:c.52T has only been found in the Bernese Mountain Dog with 3.5% of...

polymorphisms in genes involved in the response to oxidative stress such as CAT, SOD1, SOD2, SOD3, NFE2L2, HMOX1, GST-M1 or GST-T1 supporting the association of...

Tofersen (marketed as Qalsody) was approved by the FDA for the treatment of SOD1- associated amyotrophic lateral sclerosis (ALS) in 2023. It was developed...

tominersen for Huntington's disease (together with Roche), tofersen for SOD1-ALS, AKCEA-APO(a)-LRx for cardiovascular disease, and AKCEA-TTR-LRx for all...

enzyme die soon after birth. In contrast, the mice lacking copper/zinc SOD (Sod1) are viable but have numerous pathologies and a reduced lifespan (see article...

mammals and most chordates, three forms of superoxide dismutase are present. SOD1 is located primarily in the cytoplasm, SOD2 in the mitochondria and SOD3...

Gene loci Neurological disease APOE ε4, PICALM Alzheimer's disease C9orf72, SOD1 amyotrophic lateral sclerosis HTT Huntington's disease DR15, DQ6 Multiple...

Kabanov, Alexander V.; Milligan, Carol; Manickam, Devika S. (2016-06-10). "SOD1 nanozyme with reduced toxicity and MPS accumulation". Journal of Controlled...

arimoclomol delays disease progression and prevents protein aggregation in the SOD1 mouse model of ALS". J. Neurochem. 107 (2): 339–50. doi:10.1111/j.1471-4159...

system. Boundary cap neural crest stem cells promote survival of mutant SOD1 motor neurons. Before embryonic day 40 (E40), progenitor cells generate other...

into these inherited forms have led to discoveries of various genes (e.g. SOD1) that are thought to be important in understanding how the disease occurs...

mutations in the gene encoding the antioxidant enzyme superoxide dismutase 1 (SOD1) were discovered in a subset of patients with familial ALS. More recently...

affected by degenerative myelopathy, which is caused by a mutation in the SOD1 gene. A small study in the UK showed 16% of young asymptomatic German Shepherds...

responsible for human diseases such as Epidermolysis bullosa, sickle-cell disease, SOD1 mediated ALS, and a substantial number of cancers. In the most common variant...