Results 151 to 160 of about 72,561 (329)
One cause of familial Amyotrophic Lateral Sclerosis (ALS) is a mutation in Super Oxide Dismutase 1 (SOD1) whereby amino acid 93 is alanine instead of glycine (SOD1-G93A).
Thomas M. Petro +7 more
doaj +1 more source
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by the selective loss of motor neurons in the spinal cord, brain stem, and motor cortex. Mutations in superoxide dismutase (SOD1) are associated with familial ALS and
Sergey S Novoselov +7 more
doaj +1 more source
Wild-type Cu/Zn superoxide dismutase stabilizes mutant variants by heterodimerization
Mutations in the gene encoding Cu/Zn superoxide dismutase (SOD1) are responsible for a subset of amyotrophic lateral sclerosis cases presumably by the acquisition of as yet unknown toxic properties.
Anna Weichert +10 more
doaj +1 more source
New insights into applications of base editor in hereditary disorders
Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai +8 more
wiley +1 more source
ABSTRACT Despite the well‐known risks of tobacco use, tobacco exposure remains a major contributor to morbidity and mortality worldwide. Although cigarette use has declined, the popularity of novel tobacco products (NTPs), such as electronic cigarettes (ECs) and heated tobacco products (HTPs), has increased.
Timothy S. Leach +8 more
wiley +1 more source
Cashew Nut Oil Improves Lipid Metabolism and Fat Liver Deposition in High‐Fat Diet‐Fed C57BL/6J Mice
Thirty C57BL/6J mice were fed a high‐fat diet for 12 weeks to induce metabolic changes. They were then switched to diets containing cashew nut oil, soybean oil, or lard for another 12 weeks. Soybean oil reduced blood glucose, total cholesterol, LDL cholesterol, triglycerides, and liver steatosis.
Marcella Duarte Villas Mishima +11 more
wiley +1 more source
Human Cyclophilins—An Emerging Class of Drug Targets
ABSTRACT Cyclophilins are a family of enzymes with peptidyl‐prolyl isomerase activity found in all cells of all organisms. To date, 17 cyclophilin isoforms have been identified in the human body, participating in diverse biological processes. Consequently, cyclophilins have emerged as promising targets for drug development to address a wide array of ...
Katarina Jurkova +3 more
wiley +1 more source
Divergent Brain Network Activity in Asymptomatic C9orf72 and SOD1 Variant Carriers Compared With Established Amyotrophic Lateral Sclerosis. [PDF]
Box A ‐ dynamic and time‐averaged (static) resting state MEG metrics extracted from four participant groups: symptomatic amyotrophic lateral sclerosis (ALS), asymptomatic C9orf72 expansion carriers, asymptomatic SOD1 variant carriers, and healthy controls. Box B ‐ summary of MEG‐de rived metric differences associated with each group compared to healthy
Trubshaw M +14 more
europepmc +2 more sources
Oxidative stress causes abnormal accumulation of familial amyotrophic lateral sclerosis-related mutant SOD1 in transgenic Caenorhabditis elegans [PDF]
Tomoko Oeda +6 more
openalex +1 more source

