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Tiziana Bachetti

Researcher at University of Genoa

Publications -  65
Citations -  7190

Tiziana Bachetti is an academic researcher from University of Genoa. The author has contributed to research in topics: Congenital central hypoventilation syndrome & Gene. The author has an hindex of 22, co-authored 55 publications receiving 6361 citations. Previous affiliations of Tiziana Bachetti include Istituto Giannina Gaslini & Boston Children's Hospital.

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Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

Daniel J. Klionsky, +2522 more
- 21 Jan 2016 - 
TL;DR: In this paper, the authors present a set of guidelines for the selection and interpretation of methods for use by investigators who aim to examine macro-autophagy and related processes, as well as for reviewers who need to provide realistic and reasonable critiques of papers that are focused on these processes.
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PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome

TL;DR: A family transmission study has shown that the risk of developing an ANSD symptom including CCHS, regarded as the most severe expression of ANS imbalance, mainly depends on the genotype at a major locus, while significant residual variants could be due to additional minor genes, modifying loci effects or environmental factors.
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A Model of Insulin Resistance and Nonalcoholic Steatohepatitis in Rats : Role of Peroxisome Proliferator-Activated Receptor-α and n-3 Polyunsaturated Fatty Acid Treatment on Liver Injury

TL;DR: This model mimics the most common features of NASH in humans and provides an ideal tool to study the role of individual pathogenetic events (as for PPARalpha down-regulation) and to define any future experimental therapy, such as n-3 polyunsaturated fatty acid, which ameliorated the degree of liver injury.
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Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome

TL;DR: In vitro analyses aimed at identifying the pathogenetic mechanisms which underlie the effects of PHOX2B mutations in CCHS observed that the two sets of mutations play different roles in the transcriptional regulation of these genes, showing a correlation between the length of polyalanine expansions and the severity of reduced transcriptional activity.