Mutations in ZIP-ECD impairs zinc uptake into endosomal keratinocytes and causes Acrodermatitis Enteropathica

Zinc ions (Zn2+) are ingested through diet and can be found in a variety of foods – including the water supply. Zinc is the second most common transition metal ion found in the body (below iron) and is used as a cofactor in hundreds of proteins – including DNA-binding zinc-finger domains and carbonic anhydrase (converts … Read more

Parkinson’s Disease and Copper Metabolism

Parkinson’s Disease is a brain disorder which is caused by decreased levels of dopamine and the resulting degeneration of the neurons in the substantia nigra of the brain. Physical effects of Parkinson’s Disease include shaking, stiffness, issues with balance and coordination, memory loss and even dementia. As early as 175 AD, Parkinson’s disease has been … Read more

Alzheimer’s Disease

Alzheimer’s disease (AD) is a neurodegenerative disorder that accounts for approximately 80% of all dementia diagnoses. As we age, it is normal to notice a slight decrease in cognitive ability, for example, we may forget where we place our glasses or where we park our cars. However, dementia is different than benign senescent forgetfulness in … Read more

ALS and pro-oxidant activity of a SOD-1 mutant

ALS is a disease characterized by death of motor neurons and loss of motor function. There are two types of ALS; familial and sporadic, with sporadic ALS accounting for 90-95% of ALS cases. The familial form is associated with a heritable mutation in a number of genes such as superoxide dismutase 1, c9orf72, and many … Read more

Copper related pathologies

Copper (Cu) is a redox-active micronutrient that plays an important role in many physiological processes, as a cofactor for several enzymes involved in energy production, antioxidant processes, and homeostasis of other metals. We acquire Cu from our daily diet and Cu absorption occurs in the gastrointestinal lining of the small intestine. In our body, Cu … Read more