Alvaro Galli
National Research Council
Homologous recombinationGeneDNA repairMutantDNA damageMolecular biologyPoint mutationChemistrySaccharomyces cerevisiaeGenotoxicityYeastCytochromeMutationGeneticsDNABiochemistryStrain (chemistry)Missense mutationBiologyMicrosomeCell biology
98Publications
20H-index
1,242Citations
Publications 100
Newest
At present, the great challenge in human genetics is to provide significance to the growing amount of human disease-associated gene variants identified by next generation DNA sequencing technologies. Increasing evidences suggest that model organisms are of pivotal importance to addressing this issue. Due to its genetic tractability, the yeast Saccharomyces cerevisiae represents a valuable model organism for understanding human genetic variability. In the present review, we show how S. cerevisiae...
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#1Chiara GuglielmiH-Index: 2
#2Rosa Scarpitta (UniPi: University of Pisa)H-Index: 4
Last. Paolo AretiniH-Index: 21
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With the progress of sequencing technologies, an ever-increasing number of variants of unknown functional and clinical significance (VUS) have been identified in both coding and non-coding regions of the main Breast Cancer (BC) predisposition genes. The aim of this study is to identify a mutational profile of coding and intron-exon junction regions of 12 moderate penetrance genes (ATM, BRIP1, CDH1, CHEK2, NBN, PALB2, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53) in a cohort of 450 Italian patients w...
1 CitationsSource
#1Alvaro GalliH-Index: 20
Last. Tiziana CervelliH-Index: 10
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Adeno-associated virus (AAV) is a small, non-enveloped virus used as vector in gene therapy, mainly produced in human cells and in baculovirus systems. Intense studies on these platforms led to the production of vectors with titers between 103 and 105 viral genomes (vg) per cells. In spite of this, vector yields need to be improved to satisfy the high product demands of clinical trials and future commercialization. Our studies and those of other groups have explored the possibility to exploit th...
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#1Samuele Lodovichi (University of Milan)H-Index: 1
#2Tiziana CervelliH-Index: 10
Last. Alvaro GalliH-Index: 20
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Alterations in DNA repair pathways are one of the main drivers of cancer insurgence. Nevertheless, cancer cells are more susceptible to DNA damage than normal cells and they rely on specific functional repair pathways to survive. Thanks to advances in genome sequencing, we now have a better idea of which genes are mutated in specific cancers and this prompted the development of inhibitors targeting DNA repair players involved in pathways essential for cancer cells survival. Currently, the pivota...
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#1Tiziana CervelliH-Index: 10
#2Samuele LodovichiH-Index: 5
Last. Alvaro GalliH-Index: 20
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Technological advances are continuously revealing new genetic variants that are often difficult to interpret. As one of the most genetically tractable model organisms, yeast can have a central role in determining the consequences of human genetic variation. DNA repair gene mutations are associated with many types of cancers, therefore the evaluation of the functional impact of these mutations is crucial for risk assessment and for determining therapeutic strategies. Owing to the evolutionary con...
2 CitationsSource
#1Samuele LodovichiH-Index: 5
#2Francesca BellèH-Index: 1
Last. Alvaro GalliH-Index: 20
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Evaluation of the functional impact of germline BRCA1 variants that are likely to be associated to breast and ovarian cancer could help to investigate the mechanism of BRCA1 tumorigenesis. Expression of pathogenic BRCA1 missense variants increased homologous recombination (HR) and gene reversion (GR) in yeast. We thought to exploit yeast genetics to shed light on BRCA1-induced genome instability and tumorigenesis. We determined the effect on GR of several neutral and pathogenic BRCA1 variants in...
3 CitationsSource
#1Samuele LodovichiH-Index: 5
#2Alberto MercatantiH-Index: 12
Last. Alvaro GalliH-Index: 20
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Knowledge of interaction network between different proteins can be a useful tool in cancer therapy. To develop new therapeutic treatments, understanding how these proteins contribute to dysregulated cellular pathways is an important task. PARP1 inhibitors are drugs used in cancer therapy, in particular where DNA repair is defective. It is crucial to find new candidate interactors of PARP1 as new therapeutic targets in order to increase efficacy of PARP1 inhibitors and expand their clinical utili...
5 CitationsSource
#1Simone Lubrano (UniPi: University of Pisa)H-Index: 4
#2Laura ComelliH-Index: 7
Last. Tiziana CervelliH-Index: 10
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BRAFV600E is a mutant Ser–Thr protein kinase that plays a crucial role in many types of cancer, including melanoma. Despite several aspects of BRAFV600E biology have been already elucidated, the proteins that regulate its expression and activity remain largely unknown, hampering our capacity to control its unrestrained effects. Here, we propose yeast Saccharomyces cerevisiae as a model system that can be used to achieve a better understanding of the regulation of human BRAFV600E. By showing that...
3 CitationsSource
#1Luisa MarescaH-Index: 3
#2Samuele Lodovichi (UniPi: University of Pisa)H-Index: 5
Last. Alvaro GalliH-Index: 20
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In this study, we determined if BRCA1 partners involved in DNA double strand break (DSB) and mismatch repair (MMR) may contribute to breast and ovarian cancer development. Taking advantage the functional conservation of DNA repair pathways between yeast and human, we expressed several BRCA1 missense variants in DNA repair yeast mutants to identify functional interaction between BRCA1 and DNA repair in BRCA1-induced genome instability. The pathogenic p.C61G, pA1708E, p.M775R and p.I1766S, and the...
10 CitationsSource
#1Alberto MercatantiH-Index: 2
#2Samuele LodovichiH-Index: 5
Last. Alvaro GalliH-Index: 20
view all 4 authors...
: Evaluation of the functional impact of cancer-associated missense variants is more difficult than for protein-truncating mutations and consequently standard guidelines for the interpretation of sequence variants have been recently proposed. A number of algorithms and software products were developed to predict the impact of cancer-associated missense mutations on protein structure and function. Importantly, direct assessment of the variants using high-throughput functional assays using simple ...
3 CitationsSource