Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

What happens to visual artists with neuropsychological deficits? This review will examine artistic production in individuals with a variety of syndromes including achromatopsia, neglect, visual agnosia, aphasia, epilepsy, migraine, dementia and autism. From this review it appears that artists are not spared visual-motor deficits despite their special graphic abilities. Rather their talents allow them to express visual deficits with particular eloquence. By contrast, the effects of aphasia on art are variable. In addition to deficits, neuropsychological syndromes may be associated with positive phenomena. Such phenomena induced by epilepsy or migraines can serve to inspire artists. This review also makes clear that artists with neuropsychological deficits do not necessarily produce art of lesser quality. Rather, their art may change in content or in style, sometimes in surprising and aesthetically pleasing ways. The neuropsychology of visual art also touches on a few central questions about the nature of artistic expression itself. For example, what forms can artistic representations take? How are visual features used descriptively and expressively? What roles do knowing and seeing play in depiction?
 ...
PMID:The neuropsychology of visual artistic production. 1524 93

A common phenotype for many genetic diseases is that the cell is unable to deliver full-length membrane proteins to the cell surface. For some forms of autism, hereditary spherocytosis and color blindness, the culprits are single point mutations to cysteine. We have studied two inheritable cysteine mutants of cyclic nucleotide-gated channels that produce achromatopsia, a common form of severe color blindness. By taking advantage of the reactivity of cysteine's sulfhydryl group, we modified these mutants with chemical reagents that attach moieties with similar chemistries to the wild-type amino acids' side chains. We show that these modifications restored proper delivery to the cell membrane. Once there, the channels exhibited normal functional properties. This strategy might provide a unique opportunity to assess the chemical nature of membrane protein traffic problems.
 ...
PMID:Restoration of proper trafficking to the cell surface for membrane proteins harboring cysteine mutations. 2308 93