Francesco Salvatore

TL;DR: The state-of-the-art of knowledge about the SR proteins, in particular SRp20, in terms of its function and misregulation in human diseases including cancer also in view of its potential as a therapeutic target is reviewed.

TL;DR: The System-2 STR allows rapid testing with higher probabilities of attribution and a higher power of exclusion than with the comparison method with slab-gel electrophoresis and was faster than the conventional System-1 STR.

TL;DR: To identify the genetic locus responsible for malignant hyperthermia susceptibility (MHS) in an Italian family, linkage analysis to recognized MHS loci revealed a c.4060A>T transversion resulting in amino acid exchange T1354S in the IVS5-S6 extracellular pore-loop region of Ca(V)α(1S) in all MHS subjects of the family but not in 268 control subjects.

TL;DR: The results support and expand the concept that soluble amyloidogenic cardiotropic LCs exert toxic effects on cardiac cells and affect proteins involved in cytoskeletal organization, protein synthesis and quality control, mitochondrial activity and metabolism, signal transduction and molecular trafficking.

TL;DR: BBS1, BBS2 and BBS10 are major causative genes in Italian BBS patients, and B BS10 was associated with the worse outcome in terms of the renal, ocular and audiovestibular phenotypes.