Institution
University of Cagliari
Education•Cagliari, Italy•
About: University of Cagliari is a education organization based out in Cagliari, Italy. It is known for research contribution in the topics: Population & Dopamine. The organization has 11029 authors who have published 29046 publications receiving 771023 citations. The organization is also known as: Università degli Studi di Cagliari & Universita degli Studi di Cagliari.
Topics: Population, Dopamine, Dopaminergic, Context (language use), Medicine
Papers published on a yearly basis
Papers
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TL;DR: Brain dialysis was used to study the changes in dopamine release in the mesolimbic ventral striatum elicited by morphine withdrawal in rats treated with morphine every 12 h for 15 days.
149 citations
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TL;DR: The results suggest that activity of RMTg neurons is profoundly influenced by drugs of abuse and, as important inhibitory afferents to midbrain DA neurons, they might take place in the complex interplay between the neural circuits mediating aversion and reward.
149 citations
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TL;DR: The high frequency, the expected prevention by preclinical diagnosis and early treatment of the devastating effect of WD on the nervous system and liver tissue, and the feasibility to detect most of molecular defects by DNA analysis indicate that WD in the Sardinian population should be added to the list of diseases currently detected by newborn screening.
Abstract: Wilson disease (WD) in the Sardinian population has an approximate incidence of 1:7,000 live births. Mutation analysis of the WD gene in this population reported in our previous articles led us to the characterization of two common mutations and a group of 13 rare mutations accounting for the molecular defect of 8.5, 7.9, and 15.1% of the WD chromosomes. However, molecular analysis of the WD chromosomes containing the most common haplotype, which accounts for 60.5% of the WD chromosomes, failed to define the disease-causing mutation. In this study, we characterized the promoter and the 5' UTR of the WD gene sequence and carried out a mutation analysis in this DNA region from patients with the most common haplotype. The promoter is contained in a GC-rich island and shows a TATA and a CAAT consensus sequence as well as potential binding sites for transcription factors and metal response elements. In all the analyzed 92 chromosomes with this haplotype, we detected a single mutation consisting of a 15-nt deletion from position -441 to position -427 relative to the translation start site. Expression assays demonstrated a 75% reduction in the transcriptional activity of the mutated sequence compared to the normal control. By adding this mutation to those that have been already characterized, we have now defined the molecular defect in 92% of the WD chromosomes in Sardinians. The high frequency, the expected prevention by preclinical diagnosis and early treatment of the devastating effect of WD on the nervous system and liver tissue, and the feasibility to detect most of molecular defects by DNA analysis indicate that WD in the Sardinian population should be added to the list of diseases currently detected by newborn screening.
149 citations
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TL;DR: The morphology of cardiac mitochondria, as well as their physiology, is responsive to the exigencies posed by a large variety of pathological situations, and clearly play a cardinal role in homeostasis of the heart.
149 citations
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TL;DR: It is proposed that the T → C(8356) transition is responsible for the mitochondrial encephalomyopathy found in the family, and must be added to the expanding list of the pathogenetically relevant mutations of human mtDNA.
Abstract: Several members of a three-generation kindred from Sardinia were affected by a maternally inherited syndrome characterized by features of both myoclonus epilepsy with ragged-red fibers (MERRF) and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS). Clinically, symptoms such as myoclonus epilepsy, neural deafness and ataxia were variably associated with stroke-like episodes and/or migrainous attacks. Morphologically, numerous ME-LAS-associated SDH-stained vessels were observed in muscle biopsies, either alone or in combination with ragged-red fibers, the morphological hallmark of MERRF. Sequence analysis of the mtDNA tRNA genes revealed the presence of a single, heteroplasmic T → C transition at nt 8356, in the region of the tRNALys gene corrsponding to the T-Ψ-C stem. The T → C(8356) transition was exclusively found in the maternal lineage of our family, and the relative amount of the mutant mtDNA species in muscle was correlated with the severity of the clinical presentation. Therefore, we propose that the T → C(8356) transition is responsible for the mitochondrial encephalomyopathy found in our family, and must be added to the expanding list of the pathogenetically relevant mutations of human mtDNA.
148 citations
Authors
Showing all 11160 results
Name | H-index | Papers | Citations |
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Herbert W. Marsh | 152 | 646 | 89512 |
Michele Parrinello | 133 | 637 | 94674 |
Dafna D. Gladman | 129 | 1036 | 75273 |
Peter J. Anderson | 120 | 966 | 63635 |
Alessandro Vespignani | 118 | 419 | 63824 |
C. Patrignani | 117 | 1754 | 110008 |
Hermine Katharina Wöhri | 116 | 629 | 55540 |
Francesco Muntoni | 115 | 963 | 52629 |
Giancarlo Comi | 109 | 961 | 54270 |
Giorgio Parisi | 108 | 941 | 60746 |
Luca Benini | 101 | 1453 | 47862 |
Alessandro Cardini | 101 | 1288 | 53804 |
Nicola Serra | 100 | 1042 | 46640 |
Jurg Keller | 99 | 389 | 35628 |
Giulio Usai | 97 | 517 | 39392 |