Results 51 to 60 of about 3,374,032 (169)
Movement Disorders Clinical Practice, EarlyView.Abstract Background Neurodegeneration with Brain Iron Accumulation (NBIA) is a heterogeneous group of heritable, mostly recessive, progressive neurodegenerative diseases characterized by iron deposition in the basal ganglia and brainstem. There are no solid global epidemiological data on prevalence and incidence of NBIA subtypes, but registry data and ...
Susanne A. Schneider +3 more
wiley +1 more source
Hsp90 Breaks the Deadlock of the Hsp70 Chaperone System [PDF]
, 2018 Protein folding in the cell requires ATP-driven chaperone machines such as the conserved Hsp70 and Hsp90. It is enigmatic how these machines fold proteins.
Mayer, Matthias +5 more
core +2 more sources
Cell surface expression of HFE protein in epithelial cells, macrophages, and monocytes
Haematologica, 2000 BACKGROUND AND OBJECTIVE: Most patients with hereditary hemochromatosis are homozygous for a Cys282AETyr mutation in the HFE gene. This mutation has been shown to impair the association of the HFE gene product with b(2)-microglobulin and to prevent its ...
S Parkkila +8 more
doaj
The role of iron in normal and impaired testicular function
Andrology, EarlyView.Abstract Iron plays a critical role in testicular physiology, impacting spermatogenesis, testosterone production, and overall testicular function. Iron homeostasis is maintained through systemic and cellular regulatory mechanisms, including hepcidin‐mediated systemic iron control and the iron‐responsive element/iron regulatory protein (IRE/IRP) system ...
Aileen Harrer +2 more
wiley +1 more source
Haematologica, 2000 BACKGROUND AND OBJECTIVE: HFE is a class-I MHC related protein which carries the C282Y mutation in most patients with hereditary hemochromatosis, an iron overload disease. HFE protein is expected to have a relevant role in the regulation of duodenal iron
L Zuccon +9 more
doaj
Haematologica, 2011 Background Heterozygotes for the p.Cys282Tyr (C282Y) mutation of the HFE gene do not usually express a hemochromatosis phenotype. Apart from the compound heterozygous state for C282Y and the widespread p.His63Asp (H63D) variant allele, other rare HFE ...
Patricia Aguilar-Martinez +8 more
doaj +1 more source
Rare Variants in PFIC‐Related Genes Among Adults With Intrahepatic Cholestasis
Hepatology Research, EarlyView.ABSTRACT Aim Biallelic pathogenic variants in progressive familial intrahepatic cholestasis (PFIC)‐related genes cause severe pediatric cholestasis. However, the clinical significance of heterozygous variants in adult intrahepatic cholestasis remains unclear.
Shunji Hirose +9 more
wiley +1 more source
Expressed protein ligation for a large dimeric protein [PDF]
, 2011 Expressed protein ligation (EPL) is a protein engineering tool for post-translational ligation of protein or peptide fragments. This technique allows modification of specific parts of proteins, opening possibilities for incorporating probes for ...
NMR Spectroscopy +11 more
core +1 more source
Hereditary hemochromatosis: An opportunity for gene therapy
Biological Research, 2006 Levels of body iron should be tightly controlled to prevent the formation of oxygen radicals, lipoperoxidation, genotoxicity, and the production of cytotoxic cytokines, which result in damage to a number of organs.
FERNANDO EZQUER +4 more
doaj
Leishmania-mediated inhibition of iron export promotes parasite replication in macrophages. [PDF]
PLoS Pathogens, 2014 Leishmania parasites infect macrophages, cells that play an important role in organismal iron homeostasis. By expressing ferroportin, a membrane protein specialized in iron export, macrophages release iron stored intracellularly into the circulation ...
Rym Ben-Othman +5 more
doaj +1 more source