Search
Now showing items 1-10 of 143
Mortality and co-morbidity among patients with hemochromatosis and their first-degree relatives
(2010-05-14)
Genetic hemochromatosis (GH) is an autosomal recessive disease caused by
a C282Y mutation in the HFEgene, and is characterized by excess iron
accumulation in multiple organs. Classical manifestations of GH include
liver ...
Gene regulation mechanisms by the transcriptional coregulator mastermind-like 1
(2009-03-27)
MAML1 was first identified as a coactivator for Notch receptors, but later it was also found to function as a coactivator for several other activators, including p53, beta-catenin, and MEF2C. MAML1 is critical for Notch signalling and has been shown...
Recessive parkinsonism, mitochondria and translational regulation
(2008-09-05)
Three genes are known to cause recessive forms of Parkinson disease (PD) in humans: parkin, PINK1 and DJ-1. Of these, the rarest is DJ-1; less than fifty known cases worldwide are due to mutations in DJ-1. Though rare, elucidating the function of DJ...
Characterization of dopamine D1 receptor agonists in vivo : implications for the treatment of schizophrenia and Parkinson's disease
(2008-05-14)
Dopamine is fundamental in human behavior for movement, cognition and
reward. A dysfunctional dopamine system is implicated in several
neurological and psychiatric disorders such as Parkinson s disease and
schizophrenia. ...
Development of cannabinoid subtype-1 (CB1) receptor ligands for PET
(2008-05-23)
Introduction: Abnormalities in brain cannabinoid subtype-1 (CB1) receptor
concentrations and/or signaling pathways may be involved in a variety of
psychiatric and neurodegenerative disorders. There is a strong need ...
Transcription factor control in neuronal maintenance and survival
(2010-04-16)
The Transcription factor (TF) Nurr1 is essential for the development of a group of dopamine neurons that are located in the ventral midbrain (also referred to as mesencephalon). A progressive pathology of these midbrain dopamine (mDA) neurons...
Regulation and function of thioredoxin reductase 1 in human tumor cells
(2009-05-22)
The thioredoxin system is a general protein disulfide reductase system
present in all organisms. Its function is to maintain an intracellular
reducing environment and upholding a defense against reactive oxygen
species ...
Studies on cysteinyl leukotriene receptor 1 and 15-lipoxygenase-1 in lymphomas
(2008-08-22)
Classical Hodgkin lymphoma (cHL) is a malignant disorder with striking
inflammatory features. Since cysteinyl leukotrienes (cysLTs) are potent
inflammatory mediators it was of interest to study their potential role
in ...
Genetic, epigenetic and environmental factors of importance for CYP1A2 catalyzed drug metabolism
(2008-11-14)
The heme containing cytochrome P450 (CYP450) enzymes participate in the phase I metabolism of drugs and other xenobiotics as well as endogenous substrates. CYP1A2 is one of the major CYP450 enzymes and account for about 13% of the total CYP450...
Eosinophilic dermatosis implications of skin-commensal bacteria and antimicrobial peptides and proteins at birth
(2009-08-28)
At birth, the newborn infant is transferred from a sterile life in utero to an earthly life in coexistence with microbes. This transition includes the potential danger of a microbial invasion through the epithelial linings, ...