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Stranica 1 iz 475 rezultatima
Dentatorubral-pallidoluysian atrophy protein interacts through a proline-rich region near polyglutamine with the SH3 domain of an insulin receptor tyrosine kinase substrate.
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Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neuro degrees enerative disorder associated with CAG/glutamine repeat expansion. While the DRPLA gene is ubiquitously expressed, neuron death occurs in specific anatomical areas of the brain. This predicts that the DRPLA protein
Uptake of labelled proline in the degenerating retina of goldfish.
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A goldfish model with degenerating retina was utilized. Degeneration of inner nuclear layer and ganglion cell layers began prior to degeneration of outer nuclear layer. In these models, the photoreceptors still showed uptake of labelled proline. This indicated that the metabolic activities of the
Hyperornithinemia with gyrate atrophy of the choroid and retina: a disturbance in de novo formation of proline.
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Two patients with hyperornithinemia and gyrate atrophy of the choroid and retina, the first report in Japan, were described. Serum ornithine was increased 10- to 15-fold and serum lysine was slightly decreased in the affected patients. Urinary excretion of ornithine was also markedly increased.
Disease of the ornithine-proline pathway: delta 1-pyrroline-5-carboxylate reductase deficiency in the retina of retinal degeneration mice.
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In bovine ocular tissues, cornea and retina-including choroid provide the intracellular proline synthetic pathway from ornithine, but not from glutamate. In C3H retinal degeneration mice, P5C reductase activity in the retina and choroid was decreased to about one-third that of CRJ control mice in
Clinical trials of vitamin B6 and proline supplementation for gyrate atrophy of the choroid and retina.
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Five patients with gyrate atrophy of the choroid and retina were examined ophthalmologically, especially ophthalmoscopically, to evaluate trials of vitamin B6 (pyridoxine) or supplementary proline. The oral administration of vitamin B6 was tried in two patients. The vitamin did not alter the serum
Regional distribution of retinal degeneration in patients with the proline to histidine mutation in codon 23 of the rhodopsin gene.
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Mutations in the rhodopsin gene are associated with as many as one quarter of all cases of autosomal dominant retinitis pigmentosa (RP). A number of different rhodopsin mutations have been reported but only the proline to histidine mutation in codon 23 (Pro-23-His) has been well characterized
Clinical features of a previously undescribed codon 216 (proline to serine) mutation in the peripherin/retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.
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BACKGROUND
Mutations in the human peripherin/retinal degeneration slow (rds) gene have been found in patients with macular dystrophies as well as in those with autosomal dominant retinitis pigmentosa. The authors studied the clinical features in members of two families with autosomal dominant
Leucine 7-proline 7 polymorphism in the signal peptide of neuropeptide Y is not a risk factor for exudative age-related macular degeneration.
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OBJECTIVE
Because of the regulatory role of neuropeptide Y (NPY) in angiogenesis, we set out to determine the presence of the leucine 7-proline 7 (Leu7Pro) polymorphism in exudative age-related macular degeneration (AMD) patients and to analyse its implications.
METHODS
Genotype analysis of the
Detection of secondary thalamic degeneration after cortical infarction using cis-4-18F-fluoro-D-proline.
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The amino acid cis-4-(18)F-fluoro-D-proline (D-cis-(18)F-FPro) exhibits preferential uptake in the brain compared with its L-isomer, but the clinical potential of the tracer is as yet unknown. In this study we explored the cerebral uptake of D-cis-(18)F-FPro in rats with focal cortical
Disease of ornithine-proline pathway: a delta 1-pyrroline-5-carboxylate reductase deficiency in the retina or retinal degeneration mice.
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[14C]Proline accumulation by degenerating optic nerve of the rabbit in vitro: evidence for a glial transport process.
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Molecular cloning and expression of a high affinity L-proline transporter expressed in putative glutamatergic pathways of rat brain.
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We have used the polymerase chain reaction (PCR) with degenerate oligonucleotides derived from two conserved regions of the norepinephrine and gamma-aminobutyric acid transporters to identify novel Na(+)-dependent transporters in rat brain. One PCR product hybridized to a 4.0 kb RNA concentrated in
Transneuronal degeneration of beta retinal ganglion cells in the cat.
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Transneuronal retrograde degeneration of retinal ganglion cells was investigated following neonatal visual cortex ablation in the cat. After a survival time of at least 18 months, retinal ganglion cells projecting to the thalamus were labelled by retrograde transport of horseradish peroxidase.
Investigation of vitamin B₆ inadequacy, induced by exposure to the anti-B₆ factor 1-amino D-proline, on plasma lipophilic metabolites of rats: a metabolomics approach.
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OBJECTIVE
Vitamin B6 status in the body is affected by several factors including dietary supply of the antivitamin B6 factor, 1-amino D-proline (1ADP), which is present in flaxseed. Owing to the prevalence of moderate B6 deficiency in the general population, a co-occurrence of 1ADP may lead to a
The nootropic and neuroprotective proline-containing dipeptide noopept restores spatial memory and increases immunoreactivity to amyloid in an Alzheimer's disease model.
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The effects of the novel proline-containing nootropic and neuroprotective dipeptide, noopept (GVS-111, N-phenylacetyl-L-prolylglycine ethyl ester) were investigated in NMRI mice following olfactory bulbectomy. We have shown previously that these animals developed Alzheimer's disease (AD)-like
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