547 research outputs found
Mutazioni ts nei geni per i tRNA mitocondriali in S.cerevisiae quali strumenti per lo studio di interazioni nucleo citoplasmatiche
No full text
Additional copies of the Ef-Tu and Aspartyl-tRNA synthetase genes can compensate a mutation affecting the maturation of the mitochondrial tRNAAsp
No full textIn an attempt to identify new nuclear genes involved
in the synthesis and processing of mitochondrial
tRNAs, we utilized a multicopy nuclear library to suppress
the heat-sensitive phenotype of a Saccharomyces cerevisiae
mitochondrial mutant strain. This strain (Ts 932) is
defective in the 3¢-end processing of the mitochondrial
tRNAAsp transcript. The nuclear genes coding for the mitochondrial
elongation factor Tuf M and for the mitochondrial
aspartyl-tRNA synthetase have been found to restore
the temperature-resistant phenotype and to correct the
RNA processing defect. Suppression was effective even
when the genes were present on a centromeric plasmid
Valutazione del risultato estetico di impianti a connessione morse-taper nei settori frontali
No full textLo studio presenta i dati estetici di impianti a connessione conometrica inseriti nei settori frontali dei mascellari con un protocollo di carico immediato non funzional
Isolation and sequence analysis of a Kluyveromyces lactis chromosomal DNA element able to autonomously replicate in S. cerevisiae and K. lactis
No full textSpinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders
No full textSpinocerebellar ataxia type 6 (SCA6) is one of three allelic disorders caused by mutations of CACNA1A gene, coding for the pore-forming subunit of calcium channel type P/Q. SCA6 is associated with small expansions of a CAG repeat at the 3' end of the gene, while point mutations are responsible for its two allelic disorders (Episodic Ataxia type 2 and Familial Hemiplegic Migraine). Genetic, clinical, pathological and pathophysiological data of SCA6 patients are reviewed and compared to those of other SCAs with expanded CAG repeats as well as to those of its allelic channelopathies, with particular reference to Episodic Ataxia type 2. Overall SCA6 appears to share features with both types of disorders, and the question as to whether it belongs to polyglutamine disorders or to channelopathies remains unanswered at present
Cancer in perianal fistulas
No full textThe presence of a perianal fistula as a complication related to Crohn's disease (CD) was first described by Penner and by Burrill Crohn himself in 1938 [1]. Since then, intense efforts have been made and significant economic resources spent in order to improve the quality of life of patients with inflammatory bowel diseases (IBDs) who also have perianal fistulas. Unfortunately, the results have been poor regardless of the medical or surgical treatment adopted. The incidence of perianal disease is 20-25% in CD patients with terminal ileitis, but it increases to as high as 60% in CD with a colonic location and 92% when the rectum is actively involved [2-4]. In ulcerative colitis (UC) perianal suppurative lesions are less common, but the incidence of perianal abscesses and fistulas is still reported to be between 10% and 15% [5]
Yeast as a paradigm for mitochondrial disease: defective phenotype of a "MELAS" mutation and rescue by mtEF-Tu
No full text- …
