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...

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

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...

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...

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...

canine degenerative myelopathy associated superoxide dismutase 1 mutation (SOD1:c.118G > A) in a referral population of German Shepherd dogs from the UK"...

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

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)....

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

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

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...

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

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...

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...

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

drugs in pivotal studies: tominersen for Huntington's disease, tofersen for SOD1-ALS, AKCEA-APO(a)-LRx for cardiovascular disease, and AKCEA-TTR-LRx for all...

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

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...

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...

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...

exchanger isoform 1 takes part to the Ca2+-related prosurvival pathway of SOD1 in primary motor neurons exposed to beta-methylamino-L-alanine". Cell Communication...

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

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

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

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

JA, Hasnain SS, Hart PJ (June 2008). "Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis". J. Biol. Chem. 283 (23): 16169–77...

canine degenerative myelopathy associated superoxide dismutase 1 mutation (SOD1:c.118G > A) in a referral population of German Shepherd dogs from the UK"...