Patrizia Rizzu

TL;DR: The frequency of tau mutations in a large population-based study of FTD carried out in the Netherlands from January 1994 to June 1998 is reported, finding an intronic mutation at position +33 after exon 9, which is likely to affect the alternative splicing of t Tau.

TL;DR: Evidence from genetic studies on the yeast DJ-1 homologue, and biochemical studies in murine and human cell lines, suggests a role forDJ-1 as an antioxidant and/or a molecular chaperone, and this will lead to a better understanding of the pathogenesis of DJ- 1-related and common forms of Parkinson’s disease.

TL;DR: A genome-wide association study of single nucleotide polymorphisms genotyped in 1738 MDD cases and 1802 controls selected to be at low liability for MDD found 11 signals localized to a 167 kb region overlapping the gene piccolo, whose protein product localizes to the cytomatrix of the presynaptic active zone and is important in monoaminergic neurotransmission in the brain.

TL;DR: An integrated expression atlas of miRNAs and their promoters by deep-sequencing 492 short RNA libraries, with matching Cap Analysis Gene Expression (CAGE) data, is created, establishing a foundation for detailed analysis of miRNA expression patterns and transcriptional control regions.

TL;DR: Tau pathology involves a mitochondrial and oxidative stress disorder possibly distinct from that caused by Aβ, and P301L tau mitochondria displayed increased vulnerability toward β-amyloid (Aβ) peptide insult, suggesting a synergistic action of tau and Aβ pathology on the mitochondria.