The term pyridoxine is generally used to refer to the group of naturally occurring pyridine derivatives represented by pyridoxine (pyridoxol), pyridoxal, and pyridoxamine, with similar physiological actions. They are referred to as vitamin B6 vitamers. Pyridoxine is used synonym ...
Hereditary hyperammonemias can be defined as a group of inborn errors in which the altered gene product would adversely effect the nitrogen metabolism of the affected individuals, causing an abnormal accumulation of ammonia in the blood. These altered gene products primarily include t ...
Quantification of radioligand binding by exposing labeled tissue sections to phosphor screens in cassettes is similar to autoradiography using radiation sensitive film (1) (see Chapters 5 and 7). The major advantage of phosphor screens over film is the greatly increased sensitivity ...
There are currently several screening methods for the detection of point mutations, such as single-stranded conformation polymorphism, heteroduplex analysis, denaturing gradient gel electrophoresis, and chemical cleavage. These are powerful tools for the identificati ...
Mutations in the parkin gene have been shown to be responsible for a substantial number of cases of autosomal recessive early onset parkinsonism (AR-JP, PARK2, OMIM 602544) worldwide (1–4). The gene on chromosome 6q25.2-27 consists of 12 coding exons with an open reading frame of 1395 bp. The gene is est ...
Huntington’s Disease (HD) is an autosomal dominant neurodegenerative disorder with an incidence of 1/10,000. The disease is characterized by involuntary choreic movements, psychiatric disorders, dementia, and death within 15-20 years. When the HD gene was cloned in 1993, it was discov ...
Fragile X syndrome, caused by the loss or diminution of the FMR1 (FRAXA - chromosomal locus Xq27.3) encoded protein, FMRP, results in mild to moderate mental retardation as its hallmark. Patients with the syndrome often vary dramatically in presentation with a range of intellectual and behavi ...
Ligand binding to receptors is a key step in the regulation of cellular function by neurotransmitters, hormones, and many drugs. Accordingly, this initial event in ligand action is important for understanding disease and designing new drugs. A large body of experimental data describing r ...
G protein-coupled receptors (GPCRs) make up the largest and most diverse family of transmembrane proteins and respond to a wide variety of stimuli including biogenic amines, peptides, bioactive lipids, hormones, and light (1,2). Agonist binding to these receptors activates intracel ...
Historically, the G protein-coupled receptor (GPCR) protein family has proven to be an extremely tractable target class (1). It is estimated that approximately one-half of all drugs currently marketed exert their actions, either directly or indirectly, via GPCRs (2). Given the potential c ...
Scintillation proximity assay (SPA) is a homogeneous assay technology (1) which is bead-based and removes the need for a filtration step to separate bound from free ligand in a receptor-binding assay. The principle of the technology is shown in Fig. 1 .
This chapter describes the immunocytochemical (ICC) localization of receptors in tissue sections and cells growing in culture. The protocol is illustrated using examples of how site-directed polyclonal antisera can be used to distinguish between subtypes of G protein-coupled re ...
Radioligand binding is widely used to characterize receptors and to determine their anatomical distribution, particularly the superfamily of rhodopsinlike, seven-transmembrane-spanning G protein-coupled receptors (GPCRs). More than 200 receptors that transduce ma ...
In recent years, the endocytosis and the intracellular trafficking of many G protein-coupled receptors (GPCRs) have been evaluated. A milestone in the analysis of the transport of GPCRs was the molecular cloning of the green fluorescent protein (GFP) from the jellyfish Aequorea victoria ...
Attentional dysfunction has been implicated in a variety of psychopathological conditions (Cutting, 1985). Two major syndromes in which such dysfunction is considered to play a central role are attention-defidt hyperactivity disorder (ADHD) and schizophrenia. It is not clear to wh ...
Activity anorexia is a biobehavioral process that occurs in animals. Laboratory rats are fed once per day, they lose weight, but quickly adjust to the feeding regime. Other animals receive a similar meal schedule and are allowed to run voluntarily on an activity wheel—these animals die of starva ...
The introduction of neuroleptics in 1952 to clinical practice was followed by numerous reports in the literature describing a syndrome of abnormal involuntary movements that appeared with increasing frequency during treatment or during withdraw al from neuroleptics. This synd ...
When amphetamine or cocaine is administered to humans every hour or so for several days, either during the “speed runs” of addicts or in controlled laboratory settings, there reliably results a psychosis that is similar to paranoid schizophrenia in a number of important aspects. This unique re ...
Although there is a dramatic need for animal models related to schizophrenic symptomatology, the literature has been disappointing in this regard. This is also true for models of the side effects of antipsychotic drugs, particularly with regard to rodent models. Considerable controve ...
The phosphoinositides, namely phosphatidylinositol (PI), phosphatidylinositol 4-phosphate (PIP), and phosphatidylinositol 4,5-bisphosphate (PIP2), are acidic lipids that are present in all animal tissues. The markedly polar character of these lipids makes conventio ...