نتایج جستجو برای: dtnbp1
تعداد نتایج: 174 فیلتر نتایج به سال:
The role of Gαs in G protein-coupled receptor (GPCR) signalling at the cell surface is well established. Recent evidence has revealed the presence of Gαs on endosomes and its capacity to elicit GPCR-promoted signalling from this intracellular compartment. Here, we report an unconventional role for Gαs in the endocytic sorting of GPCRs to lysosomes. Cellular depletion of Gαs specifically delays ...
With the advent of DSM 5 criticism has generally centered on a lack of biological validity of the diagnostic criteria. Part of the problem in describing a nosology of psychosis is the tacit assumption of multiple genetic causes each with an incremental loading on the clinical picture that fails to differentiate a clear underlying pathophysiology of high impact. The aim of this paper is to conso...
TO THE EDITOR— Previous studies in your journal [1–3] and others [4–6] have focused on the use of smartphone applications (apps) to help in the education and training of healthcare professionals (HCPs) around aspects of antimicrobial prescribing or stewardship (AMS). However, no studies have yet explored the availability of similar apps for patients or the public. The following inclusion criter...
BACKGROUND Dysbindin, a cytoplasmic protein long known to function in the biogenesis of specialized lysosome-related organelles (LROs), has been reported to reduce surface expression of D2 dopamine receptors in neurons. Dysbindin is broadly expressed, and dopamine receptors are members of the large family of G protein-coupled receptors (GPCRs) that function in diverse cell types. Thus we asked ...
Mutations in the gene encoding tripartite motif protein 32 (TRIM32) cause two seemingly diverse diseases: limb-girdle muscular dystrophy type 2H (LGMD2H) or sarcotubular myopathy (STM) and Bardet-Biedl syndrome type 11(BBS11). Although TRIM32 is involved in protein ubiquitination, its substrates and the molecular consequences of disease-causing mutations are poorly understood. In this paper, we...
The dystrophin-associated protein complex (DPC), comprising sarcoglycans, dystroglycans, dystrobrevins, and syntrophins, is a component of synapses both in muscle and brain. Dysbindin is a novel component of the DPC, which binds to beta-dystrobrevin and may serve as an adaptor protein that links the DPC to an intracellular signaling cascade. Disruption of the DPC results in muscular dystrophy, ...
R on the genetic basis of mental disorders crossed a major watershed this summer. For the first time, specific genes have been discovered that influence susceptibility to schizophrenia, a psychosis that affects nearly 1% of people throughout the world and accounts for about 2.5% of health-care costs (1). In this issue of PNAS, Chumakov and colleagues (2) describe a new human gene, G72, on chrom...
Schizophrenia is one of the most devastating psychiatric disorders. Schizophrenia affects 1.1% of the population or 51 million people (NIMH). Schizophrenia is a disorder that affects multiple brain regions and systems. Symptoms include positive symptoms, negative symptoms and cognitive deficits. Much research has focused on two neurotransmitter systems, dopamine and glutamate. Postmortem studie...
Dysbindin is known to (a) bind ß-dystrobrevin in postsynaptic densities in a number of brain areas, and (b) be a component of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Reduced levels of dysbindin have been identified presynaptically at hippocampal formation sites lacking ß-dystrobrevin in schizophrenia cases. This suggests a role for dysbindin in schizophrenia pathobiolo...
Behavioral studies and neurobiological models of mental illnesses can be used to inform theories of mind and action. In this paper I use specific aspects of some paradigmatic cases in order to establish what I consider to be a useful distinction for the analysis of human action and, more specifically, the delimitation of habitual action. Patient SM is a well-known case of Urbach-Wiethe disease—...
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