The loss of microglia activities facilitates glaucoma progression in association with CYP1B1 gene mutation (p.Gly61Glu).

Background: Glaucoma represents the second main cause of irreversible loss of eyesight worldwide. Progression of the disease is due to changes around the optic nerve, eye structure and optic nerve environment. Focusing on primary congenital glaucoma, which is not completely understood, we report an evaluation of an untested mutation (c.

Proteomic and Molecular Assessment of the Common Saudi Variant in Gene Through Mesenchymal Stem Cells.

Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) is a coenzyme encoded by that converts very-long-chain fatty acids into energy. This process is disrupted by c.65C > A; p.

The SORCS3 gene is mutated in brothers with infantile spasms and intellectual disability.

The sortilin-related VPS10 domain-containing receptor 3 (SORCS3) is a type-I receptor transmembrane protein and a member of the vacuolar protein sorting 10 receptor family. Proteins of this family are defined to have a vacuolar protein sorting 10 domain at the N-terminus. They play important roles as a sorting agency within the cells and transport a variety of intracellular proteins between the Golgi apparatus, endosome, lysosome, secretory granules, and plasma membrane.