Structure of the human TRiC/CCT Subunit 5 associated with hereditary sensory neuropathy
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-03825-3
Abstract: The human chaperonin TRiC consists of eight non-identical subunits, and its protein-folding activity is critical for cellular health. Misfolded proteins are associated with many human diseases, such as amyloid diseases, cancer, and neuropathies, making TRiC… read more here.
Keywords: cct subunit; sensory neuropathy; associated hereditary; human tric ... See more keywords
Endoglin Wild Type and Variants Associated With Hereditary Hemorrhagic Telangiectasia Type 1 Undergo Distinct Cellular Degradation Pathways
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Molecular Biosciences"
DOI: 10.3389/fmolb.2022.828199
Abstract: Endoglin, also known as cluster of differentiation 105 (CD105), is an auxiliary receptor in the TGFβ signaling pathway. It is predominantly expressed in endothelial cells as a component of the heterotetrameric receptor dimers comprising type… read more here.
Keywords: associated hereditary; pathology; hereditary hemorrhagic; type ... See more keywords
Pathophysiology and underlying mechanisms in hereditary angioedema
Sign Up to like & getrecommendations! Published in 2020 at "Balkan Medical Journal"
DOI: 10.4274/balkanmedj.galenos.2020.2020.10.166
Abstract: This review aims to summarize the main pathophysiological events involved in the development of hereditary angioedema (OMIM#106100). Hereditary angioedema is a rare genetic disease inherited in an autosomal dominant manner and caused by a loss… read more here.
Keywords: mechanisms hereditary; angioedema; pathophysiology underlying; underlying mechanisms ... See more keywords