The predominant form of type V collagen is the [α1(V)]2α2(V) heterotrimer. Mutations in COL5A1 or COL5A2, encoding respectively the α1(V)- and α2(V)-collagen chain, cause classic Ehlers-Danlos syndrome (EDS), a heritable connective tissue disorder, characterized by fragile hyperextensible skin a... Background:
The cryopreservation and thawing processes are known to induce many deleterious effects in cells and might be detrimental to several cell types. There is an inherent variability in cellular responses among cell types and within individual cells of a given population with regard to t... Background:
Mutations in the Abnormal Spindle Microcephaly related gene (ASPM) are the commonest cause of autosomal recessive primary microcephaly (MCPH) a disorder characterised by a small brain and associated mental retardation. ASPM encodes a mitotic spindle pole associated protein. It is su... Sorting nexin 33 (SNX33) is a homolog of the endocytic protein SNX9 and has been implicated in actin polymerization and the endocytosis of the amyloid precursor protein. SNX33 belongs to the large family of BAR domain-containing proteins, which alter cellular protein trafficking by modulating cellul... Background:
A potential strategy for treatment of sickle cell disease (SCD) and beta-thalassemia in adults is reactivation of the epsilon- and gamma-globin genes in the adult. We aimed to identify trans-activators of epsilon- and gamma-globin expression and provide new candidate targets for eff...