Massimo Delledonne

@univr.it

Professor of Genetics, Dept of Biotechnologies
University of Verona



                       

https://researchid.co/massimo.delledonne
219

Scopus Publications

28357

Scholar Citations

78

Scholar h-index

170

Scholar i10-index

Scopus Publications

  • Differentiation of long Non-Coding RNA expression profiles in three Fruiting stages of grape
    Shahla Sahraei, Nafiseh Mahdinezhad, Abbasali Emamjomeh, Kaveh Kavousi, Mahmood Solouki, and Massimo Delledonne

    Elsevier BV

  • Transcriptomic analysis reveals role of lncRNA LOC100257036 to regulate AGAMOUS during cluster compactness of Vitis vinifera cv. sistan yaghooti
    Shahla Sahraei, Nafiseh Mahdinezhad, Abbasali Emamjomeh, Kaveh Kavousi, Mahmood Solouki, and Massimo Delledonne

    Springer Science and Business Media LLC

  • Correction to: Adaptive gene loss in the common bean pan-genome during range expansion and domestication (Nature Communications, (2024), 15, 1, (6698), 10.1038/s41467-024-51032-2)
    Gaia Cortinovis, Leonardo Vincenzi, Robyn Anderson, Giovanni Marturano, Jacob Ian Marsh, Philipp Emanuel Bayer, Lorenzo Rocchetti, Giulia Frascarelli, Giovanna Lanzavecchia, Alice Pieri,et al.

    Springer Science and Business Media LLC

  • Adaptive gene loss in the common bean pan-genome during range expansion and domestication
    Gaia Cortinovis, Leonardo Vincenzi, Robyn Anderson, Giovanni Marturano, Jacob Ian Marsh, Philipp Emanuel Bayer, Lorenzo Rocchetti, Giulia Frascarelli, Giovanna Lanzavecchia, Alice Pieri,et al.

    Springer Science and Business Media LLC
    AbstractThe common bean (Phaseolus vulgaris L.) is a crucial legume crop and an ideal evolutionary model to study adaptive diversity in wild and domesticated populations. Here, we present a common bean pan-genome based on five high-quality genomes and whole-genome reads representing 339 genotypes. It reveals ~234 Mb of additional sequences containing 6,905 protein-coding genes missing from the reference, constituting 49% of all presence/absence variants (PAVs). More non-synonymous mutations are found in PAVs than core genes, probably reflecting the lower effective population size of PAVs and fitness advantages due to the purging effect of gene loss. Our results suggest pan-genome shrinkage occurred during wild range expansion. Selection signatures provide evidence that partial or complete gene loss was a key adaptive genetic change in common bean populations with major implications for plant adaptation. The pan-genome is a valuable resource for food legume research and breeding for climate change mitigation and sustainable agriculture.

  • Haematococcus lacustris genome assembly and annotation reveal diploid genetic traits and stress-induced gene expression patterns
    Luca Marcolungo, Francesco Bellamoli, Michela Cecchin, Giulia Lopatriello, Marzia Rossato, Emanuela Cosentino, Stephane Rombauts, Massimo Delledonne, and Matteo Ballottari

    Elsevier BV

  • Molecular and Serological Detection of Bovine Coronaviruses in Marmots (Marmota marmota) in the Alpine Region
    Ana Moreno, Sabrina Canziani, Davide Lelli, Anna Castelli, Alessandro Bianchi, Irene Bertoletti, Federica Maccarinelli, Marco Carlomagno, Matteo Paini, Marzia Rossato,et al.

    MDPI AG
    In this study, virological surveillance focused on coronaviruses in marmots in the Alpine region in 2022, captured as part of a population control reduction program in the Livigno area. Seventy-six faecal samples were randomly collected from marmots at the time of capture and release and tested for genome detection of pan-coronavirus, pan-pestivirus, canine distemper virus, and influenza A and D virus. Nine faecal samples were positive in the Pan-CoV RT-PCR, while all were negative for the other viruses. Pan-coronavirus positives were further identified using Illumina’s complete genome sequencing, which showed the highest homology with Bovine Coronavirus previously detected in roe deer in the Alps. Blood samples (n.35) were collected randomly from animals at release and tested for bovine coronavirus (BCoV) antibodies using competitive ELISA and VNT. Serological analyses revealed that 8/35 sera were positive for BCoV antibodies in both serological tests. This study provides molecular and serological evidence of the presence of BCoV in an alpine marmot population due to a likely spillover event. Marmots share areas and pastures with roe deer and other wild ruminants, and environmental transmission is a concrete possibility.

  • Changes in the Adaptive Cellular Repertoire after Infection with Different SARS-CoV-2 VOCs in a Cohort of Vaccinated Healthcare Workers
    Sara Caldrer, Silvia Accordini, Cristina Mazzi, Natalia Tiberti, Michela Deiana, Andrea Matucci, Eleonora Rizzi, Stefano Tais, Fabio Filippo, Matteo Verzè,et al.

    MDPI AG
    Background: Currently approved vaccines are highly effective in protecting against hospitalization and severe COVID-19 infections. How pre-existing immunity responds to new variants with mutated antigens is crucial information for elucidating the functional interplay between antibodies and B and T cell responses during infection with new SARS-CoV-2 variants. Methods: In this study, we monitored the dynamics and persistence of the immune response versus different SARS-CoV-2 variants of concern that emerged during the pandemic period (2021–2022) in a cohort of vaccinated healthcare workers, who experienced breakthrough infection in the Pre-Delta, Delta, and Omicron waves. We evaluated both the humoral and cell-mediated responses after infection. We also evaluated the anti-SARS-CoV-2 antibodies levels produced by infection in comparison with those produced after vaccination. Results: Our results highlighted that the immune response against the Delta VOC mainly involved an adaptive humoral and switched memory B cells component, even 3 months after the last vaccine dose, conversely showing a high percentage of depleted adaptive T cells. Omicron infections triggered a consistent production of non-vaccine-associated anti-N antibodies, probably to balance the spike epitope immune escape mechanisms. Conclusion: Our results suggest a direct dependence between the VOC and different humoral and B and T cell balances in the post-infection period, despite the administration of a different number of vaccine doses and the elapsed time since the last vaccination.

  • Correlation between microbial communities and volatile organic compounds in an urban soil provides clues on soil quality towards sustainability of city flowerbeds
    Fabiano Sillo, Luisa Neri, Alice Calvo, Elisa Zampieri, Gianniantonio Petruzzelli, Irene Ferraris, Massimo Delledonne, Alessandro Zaldei, Beniamino Gioli, Rita Baraldi,et al.

    Elsevier BV

  • A new, unusually large, Clavicornaltica Scherer, 1974 flea beetle from Borneo, described and sequenced in the field by citizen scientists (Coleoptera, Chrysomelidae, Galerucinae)
    Sean Otani, Luca Bertoli, Filippo Lucchini, Tom van den Beuken, Desanne Boin, Lehman Ellis, Holm Friedrich, Brittany Jacquot, Sotiris Kountouras, Sarah Lim,et al.

    Biodiversity Data Journal Pensoft Publishers
    The genus Clavicornaltica Scherer 1974 consists of very small, soil-dwelling flea beetles in South, Southeast and East Asia. Due to their diminutive size and morphological similarities, very little is known about their ecology and taxonomical diversity. It is likely that further studies will reveal this genus to be much more speciose than the 30 species currently recognised. A new species of Clavicornaltica from Brunei Darussalam is described, C. mataikanensis Otani et al., sp. nov. This is the second species of this genus recorded from Ulu Temburong National Park.

  • Genotype Combinations Drive Variability in the Microbiome Configuration of the Rhizosphere of Maize/Bean Intercropping System
    Giovanna Lanzavecchia, Giulia Frascarelli, Lorenzo Rocchetti, Elisa Bellucci, Elena Bitocchi, Valerio Di Vittori, Fabiano Sillo, Irene Ferraris, Giada Carta, Massimo Delledonne,et al.

    MDPI AG
    In an intercropping system, the interplay between cereals and legumes, which is strongly driven by the complementarity of below-ground structures and their interactions with the soil microbiome, raises a fundamental query: Can different genotypes alter the configuration of the rhizosphere microbial communities? To address this issue, we conducted a field study, probing the effects of intercropping and diverse maize (Zea mays L.) and bean (Phaseolus vulgaris L., Phaseolus coccineus L.) genotype combinations. Through amplicon sequencing of bacterial 16S rRNA genes from rhizosphere samples, our results unveil that the intercropping condition alters the rhizosphere bacterial communities, but that the degree of this impact is substantially affected by specific genotype combinations. Overall, intercropping allows the recruitment of exclusive bacterial species and enhances community complexity. Nevertheless, combinations of maize and bean genotypes determine two distinct groups characterized by higher or lower bacterial community diversity and complexity, which are influenced by the specific bean line associated. Moreover, intercropped maize lines exhibit varying propensities in recruiting bacterial members with more responsive lines showing preferential interactions with specific microorganisms. Our study conclusively shows that genotype has an impact on the rhizosphere microbiome and that a careful selection of genotype combinations for both species involved is essential to achieve compatibility optimization in intercropping.

  • Author Correction: Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation (Nature Communications, (2023), 14, 1, (2034), 10.1038/s41467-023-37585-8)
    Uirá Souto Melo, Jerome Jatzlau, Cesar A. Prada-Medina, Elisabetta Flex, Sunhild Hartmann, Salaheddine Ali, Robert Schöpflin, Laura Bernardini, Andrea Ciolfi, M-Hossein Moeinzadeh,et al.

    Springer Science and Business Media LLC

  • Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation
    Uirá Souto Melo, Jerome Jatzlau, Cesar A. Prada-Medina, Elisabetta Flex, Sunhild Hartmann, Salaheddine Ali, Robert Schöpflin, Laura Bernardini, Andrea Ciolfi, M-Hossein Moeinzadeh,et al.

    Springer Science and Business Media LLC
    AbstractHeterotopic ossification is a disorder caused by abnormal mineralization of soft tissues in which signaling pathways such as BMP, TGFβ and WNT are known key players in driving ectopic bone formation. Identifying novel genes and pathways related to the mineralization process are important steps for future gene therapy in bone disorders. In this study, we detect an inter-chromosomal insertional duplication in a female proband disrupting a topologically associating domain and causing an ultra-rare progressive form of heterotopic ossification. This structural variant lead to enhancer hijacking and misexpression of ARHGAP36 in fibroblasts, validated here by orthogonal in vitro studies. In addition, ARHGAP36 overexpression inhibits TGFβ, and activates hedgehog signaling and genes/proteins related to extracellular matrix production. Our work on the genetic cause of this heterotopic ossification case has revealed that ARHGAP36 plays a role in bone formation and metabolism, outlining first details of this gene contributing to bone-formation and -disease.

  • Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes
    Chiara Giovenino, Slavica Trajkova, Lisa Pavinato, Simona Cardaropoli, Verdiana Pullano, Enza Ferrero, Elena Sukarova-Angelovska, Silvia Carestiato, Paola Salmin, Antonina Rinninella,et al.

    Springer Science and Business Media LLC

  • An isoform of the giant protein titin is a master regulator of human T lymphocyte trafficking
    Lara Toffali, Beatrice D’Ulivo, Cinzia Giagulli, Alessio Montresor, Elena Zenaro, Massimo Delledonne, Marzia Rossato, Barbara Iadarola, Andrea Sbarbati, Paolo Bernardi,et al.

    Elsevier BV

  • CRISPR-Cas9-based repeat depletion for highthroughput genotyping of complex plant genomes
    Marzia Rossato, Luca Marcolungo, Luca De Antoni, Giulia Lopatriello, Elisa Bellucci, Gaia Cortinovis, Giulia Frascarelli, Laura Nanni, Elena Bitocchi, Valerio Di Vittori,et al.

    Cold Spring Harbor Laboratory
    High-throughput genotyping enables the large-scale analysis of genetic diversity in population genomics and genome-wide association studies that combine the genotypic and phenotypic characterization of large collections of accessions. Sequencing-based approaches for genotyping are progressively replacing traditional genotyping methods because of the lower ascertainment bias. However, genome-wide genotyping based on sequencing becomes expensive in species with large genomes and a high proportion of repetitive DNA. Here we describe the use of CRISPR-Cas9 technology to deplete repetitive elements in the 3.76-Gb genome of lentil (Lens culinaris), 84% consisting of repeats, thus concentrating the sequencing data on coding and regulatory regions (single-copy regions). We designed a custom set of 566,766 gRNAs targeting 2.9 Gbp of repeats and excluding repetitive regions overlapping annotated genes and putative regulatory elements based on ATAC-seq data. The novel depletion method removed ∼40% of reads mapping to repeats, increasing those mapping to single-copy regions by ∼2.6-fold. When analyzing 25 million fragments, this repeat-to-single-copy shift in the sequencing data increased the number of genotyped bases of ∼10-fold compared to nondepleted libraries. In the same condition, we were also able to identify ∼12-fold more genetic variants in the single-copy regions and increased the genotyping accuracy by rescuing thousands of heterozygous variants that otherwise would be missed because of low coverage. The method performed similarly regardless of the multiplexing level, type of library or genotypes, including different cultivars and a closely related species (L. orientalis). Our results showed that CRISPR-Cas9-driven repeat depletion focuses sequencing data on single-copy regions, thus improving high-density and genome-wide genotyping in large and repetitive genomes.

  • Vitis vinifera Manseng noir, the sister of Tannat. Alternative variety for low alcohol wines produced in Uruguayan conditions
    Laura Fariña, Victoria Gonzalez, Dany Mayo, Eduardo Boido, Pia Carrau, Valentina Martin, Aníbal Paz, Diego Simon, Cecília Da Silva, Fernando Alvarez-Valin,et al.

    EDP Sciences
    Vitis vinifera Tannat was introduced in Uruguay in 1870 from the Basque Pyrenees, and within several grapevines it became the variety best adapted to our viticultural conditions. Recently, through genetic analysis it was demonstrated that Manseng Noir, in addition to originate from the same region of Tannat, is the only natural sister identified within 2500 Vitis varieties surveyed [1]. Given the small commercial vineyard of this variety in France, after several years we have managed to plant in 2019 the first vineyard outside the Pyrenees in Uruguay. In 2021 and 2022 harvests, its elaboration is achieved with the aim of comparing its wine with Tannat. Results obtained show that its agronomic phenotype, as well as aspects of sanity, acidity, and color intensity are similar to Tannat, but with the particularity that grapes are of moderate ripening, 12.5% of alc., total polyphenol index was 12% lower than the control Tannat at 14% of alcohol. Interestingly, Manseng Noir shows an early smoothness in its tannins that allow to achieve lower alcohol wines, still powerful color and structure but less astringency in the mouth. Its complete genome was sequenced by Illumina technology and comparative genome analysis with Tannat was carried on. Genetic, metabolomic and sensory analyzes comparison with Tannat are discussed in this work.

  • Comparative analysis of bioinformatics tools to characterize SARS-CoV-2 subgenomic RNAs
    Denise Lavezzari, Antonio Mori, Elena Pomari, Michela Deiana, Antonio Fadda, Luca Bertoli, Alessandro Sinigaglia, Silvia Riccetti, Luisa Barzon, Chiara Piubelli,et al.

    Life Science Alliance, LLC
    During the replication of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), positive-sense genomic RNA and subgenomic RNAs (sgRNAs) are synthesized by a discontinuous process of transcription characterized by a template switch, regulated by transcription-regulating sequences (TRS). Although poorly known about makeup and dynamics of sgRNAs population and function of its constituents, next-generation sequencing approaches with the help of bioinformatics tools have made a significant contribution to expand the knowledge of sgRNAs in SARS-CoV-2. For this scope to date, Periscope, LeTRS, sgDI-tector, and CORONATATOR have been developed. However, limited number of studies are available to compare the performance of such tools. To this purpose, we compared Periscope, LeTRS, and sgDI-tector in the identification of canonical (c-) and noncanonical (nc-) sgRNA species in the data obtained with the Illumina ARTIC sequencing protocol applied to SARS-CoV-2–infected Caco-2 cells, sampled at different time points. The three software showed a high concordance rate in the identification and in the quantification of c-sgRNA, whereas more differences were observed in nc-sgRNA. Overall, LeTRS and sgDI-tector result to be adequate alternatives to Periscope to analyze Fastq data from sequencing platforms other than Nanopore.

  • A new semi-slug of the genus Microparmarion from Brunei, discovered, described and DNAbarcoded on citizen-science 'taxon expeditions' (Gastropoda, Stylommatophora, Ariophantidae)
    Menno Schilthuizen, Simon Berenyi, Nurilya Ezzwan, Nur Izzah Hamdani, Harrison Wu, Luca De Antoni, Leonardo Vincenzi, Werner de Gier, Anthonie van Peursen, Iva Njunjić,et al.

    Pensoft Publishers
    During citizen-science expeditions to the Ulu Temburong National Park, Brunei, several individuals were collected of a semi-slug species of the genus Microparmarion that, based on morphology and in-the-field DNA-barcoding, was found to be an undescribed species. In this paper, we describe Microparmarion sallehi Wu, Ezzwan & Hamdani, n. sp., after field centre supervisor Md Salleh Abdullah Bat. We provide details on the external and internal reproductive morphology, the shell and the ecology of the type locality, as well as a diagnosis comparing it with related species. DNA barcodes were generated for five individuals and used for a phylogenetic reconstruction. Microparmarion sallehi sp. n. and M. exquadratus Schilthuizen et al., 2019 so far are the only Bornean species of the genus that live in lowland forest; other species are found in montane forests.

  • Structural Refinement by Direct Mapping Reveals Assembly Inconsistencies near Hi-C Junctions
    Luca Marcolungo, Leonardo Vincenzi, Matteo Ballottari, Michela Cecchin, Emanuela Cosentino, Thomas Mignani, Antonina Limongi, Irene Ferraris, Matteo Orlandi, Marzia Rossato,et al.

    MDPI AG
    High-throughput chromosome conformation capture (Hi-C) is widely used for scaffolding in de novo assembly because it produces highly contiguous genomes, but its indirect statistical approach can introduce connection errors. We employed optical mapping (Bionano Genomics) as an orthogonal scaffolding technology to assess the structural solidity of Hi-C reconstructed scaffolds. Optical maps were used to assess the correctness of five de novo genome assemblies based on long-read sequencing for contig generation and Hi-C for scaffolding. Hundreds of inconsistencies were found between the reconstructions generated using the Hi-C and optical mapping approaches. Manual inspection, exploiting raw long-read sequencing data and optical maps, confirmed that several of these conflicts were derived from Hi-C joining errors. Such misjoins were widespread, involved the connection of both small and large contigs, and even overlapped annotated genes. We conclude that the integration of optical mapping data after, not before, Hi-C-based scaffolding, improves the quality of the assembly and limits reconstruction errors by highlighting misjoins that can then be subjected to further investigation.

  • CRISPR/Cas9-Mediated Enrichment Coupled to Nanopore Sequencing Provides a Valuable Tool for the Precise Reconstruction of Large Genomic Target Regions
    Giulia Lopatriello, Simone Maestri, Massimiliano Alfano, Roberto Papa, Valerio Di Vittori, Luca De Antoni, Elisa Bellucci, Alice Pieri, Elena Bitocchi, Massimo Delledonne,et al.

    MDPI AG
    Complete and accurate identification of genetic variants associated with specific phenotypes can be challenging when there is a high level of genomic divergence between individuals in a study and the corresponding reference genome. We have applied the Cas9-mediated enrichment coupled to nanopore sequencing to perform a targeted de novo assembly and accurately reconstruct a genomic region of interest. This approach was used to reconstruct a 250-kbp target region on chromosome 5 of the common bean genome (Phaseolus vulgaris) associated with the shattering phenotype. Comparing a non-shattering cultivar (Midas) with the reference genome revealed many single-nucleotide variants and structural variants in this region. We cut five 50-kbp tiled sub-regions of Midas genomic DNA using Cas9, followed by sequencing on a MinION device and de novo assembly, generating a single contig spanning the whole 250-kbp region. This assembly increased the number of Illumina reads mapping to genes in the region, improving their genotypability for downstream analysis. The Cas9 tiling approach for target enrichment and sequencing is a valuable alternative to whole-genome sequencing for the assembly of ultra-long regions of interest, improving the accuracy of downstream genotype–phenotype association analysis.

  • Metabolite and lipoprotein profiles reveal sex-related oxidative stress imbalance in de novo drug-naive Parkinson’s disease patients
    Gaia Meoni, Leonardo Tenori, Sebastian Schade, Cristina Licari, Chiara Pirazzini, Maria Giulia Bacalini, Paolo Garagnani, Paola Turano, Alessandra Dal Molin, Anna Bartoletti-Stella,et al.

    Springer Science and Business Media LLC
    AbstractParkinson’s disease (PD) is the neurological disorder showing the greatest rise in prevalence from 1990 to 2016. Despite clinical definition criteria and a tremendous effort to develop objective biomarkers, precise diagnosis of PD is still unavailable at early stage. In recent years, an increasing number of studies have used omic methods to unveil the molecular basis of PD, providing a detailed characterization of potentially pathological alterations in various biological specimens. Metabolomics could provide useful insights to deepen our knowledge of PD aetiopathogenesis, to identify signatures that distinguish groups of patients and uncover responsive biomarkers of PD that may be significant in early detection and in tracking the disease progression and drug treatment efficacy. The present work is the first large metabolomic study based on nuclear magnetic resonance (NMR) with an independent validation cohort aiming at the serum characterization of de novo drug-naive PD patients. Here, NMR is applied to sera from large training and independent validation cohorts of German subjects. Multivariate and univariate approaches are used to infer metabolic differences that characterize the metabolite and the lipoprotein profiles of newly diagnosed de novo drug-naive PD patients also in relation to the biological sex of the subjects in the study, evidencing a more pronounced fingerprint of the pathology in male patients. The presence of a validation cohort allowed us to confirm altered levels of acetone and cholesterol in male PD patients. By comparing the metabolites and lipoproteins levels among de novo drug-naive PD patients, age- and sex-matched healthy controls, and a group of advanced PD patients, we detected several descriptors of stronger oxidative stress.

  • 'Nebbiolo' genome assembly allows surveying the occurrence and functional implications of genomic structural variations in grapevines (Vitis vinifera L.)
    Simone Maestri, Giorgio Gambino, Giulia Lopatriello, Andrea Minio, Irene Perrone, Emanuela Cosentino, Barbara Giovannone, Luca Marcolungo, Massimiliano Alfano, Stephane Rombauts,et al.

    Springer Science and Business Media LLC
    Abstract Background ‘Nebbiolo’ is a grapevine cultivar typical of north-western Italy, appreciated for producing high-quality red wines. Grapevine cultivars are characterized by possessing highly heterozygous genomes, including a great incidence of genomic rearrangements larger than 50 bp, so called structural variations (SVs). Even though abundant, SVs are an under-explored source of genetic variation mainly due to methodological limitations at their detection. Results We employed a multiple platform approach to produce long-range genomic data for two different ‘Nebbiolo’ clones, namely: optical mapping, long-reads and linked-reads. We performed a haplotype-resolved de novo assembly for cultivar ‘Nebbiolo’ (clone CVT 71) and used an ab-initio strategy to annotate it. The annotated assembly enhanced our ability to detect SVs, enabling the study of genomic regions not present in the grapevines’ reference genome and accounting for their functional implications. We performed variant calling analyses at three different organizational levels: i) between haplotypes of clone CVT 71 (primary assembly vs haplotigs), ii) between ‘Nebbiolo’ and ‘Cabernet Sauvignon’ assemblies and iii) between clones CVT 71 and CVT 185, representing different ‘Nebbiolo’ biotypes. The cumulative size of non-redundant merged SVs indicated a total of 79.6 Mbp for the first comparison and 136.1 Mbp for the second one, while no SVs were detected for the third comparison. Interestingly, SVs differentiating cultivars and haplotypes affected similar numbers of coding genes. Conclusions Our results suggest that SVs accumulation rate and their functional implications in ‘Nebbiolo’ genome are highly-dependent on the organizational level under study. SVs are abundant when comparing ‘Nebbiolo’ to a different cultivar or the two haplotypes of the same individual, while they turned absent between the two analysed clones.

  • The Physical Activity and Nutritional INfluences in Ageing (PANINI) Toolkit: A Standardized Approach towards Physical Activity and Nutritional Assessment of Older Adults
    Keenan A. Ramsey, Carel G. M. Meskers, Marijke C. Trappenburg, Maria Giulia Bacalini, Massimo Delledonne, Paolo Garagnani, Carolyn Greig, Victor Kallen, Nico van Meeteren, Natal van Riel,et al.

    MDPI AG
    Assessing multiple domains of health in older adults requires multidimensional and large datasets. Consensus on definitions, measurement protocols and outcome measures is a prerequisite. The Physical Activity and Nutritional INfluences In Ageing (PANINI) Toolkit aims to provide a standardized toolkit of best-practice measures for assessing health domains of older adults with an emphasis on nutrition and physical activity. The toolkit was drafted by consensus of multidisciplinary and pan-European experts on ageing to standardize research initiatives in diverse populations within the PANINI consortium. Domains within the PANINI Toolkit include socio-demographics, general health, nutrition, physical activity and physical performance and psychological and cognitive health. Implementation across various countries, settings and ageing populations has proven the feasibility of its use in research. This multidimensional and standardized approach supports interoperability and re-use of data, which is needed to optimize the coordination of research efforts, increase generalizability of findings and ultimately address the challenges of ageing.

  • A Gain-of-Function Mutation on BCKDK Gene and Its Possible Pathogenic Role in Branched-Chain Amino Acid Metabolism
    Alice Maguolo, Giulia Rodella, Alejandro Giorgetti, Marion Nicolodi, Rui Ribeiro, Alice Dianin, Gaetano Cantalupo, Irene Monge, Sarah Carcereri, Margherita Lucia De Bernardi,et al.

    MDPI AG
    BCKDK is an important key regulator of branched-chain ketoacid dehydrogenase complex activity by phosphorylating and so inactivating branched-chain ketoacid dehydrogenases, the rate-limiting enzyme of the branched-chain amino acid metabolism. We identified, by whole exome-sequencing analysis, the p.His162Gln variant of the BCKDK gene in a neonate, picked up by newborn screening, with a biochemical phenotype of a mild form of maple syrup urine disease (MSUD). The same biochemical and genetic picture was present in the father. Computational analysis of the mutation was performed to better understand its role. Extensive atomistic molecular dynamics simulations showed that the described mutation leads to a conformational change of the BCKDK protein, which reduces the effect of inhibitory binding bound to the protein itself, resulting in its increased activity with subsequent inactivation of BCKDC and increased plasmatic branched-chain amino acid levels. Our study describes the first evidence of the involvement of the BCKDK gene in a mild form of MSUD. Although further data are needed to elucidate the clinical relevance of the phenotype caused by this variant, awareness of this regulatory activation of BCKDK is very important, especially in newborn screening data interpretation.

  • Real-Time On-Site Diagnosis of Quarantine Pathogens in Plant Tissues by Nanopore-Based Sequencing
    Luca Marcolungo, Alessandro Passera, Simone Maestri, Elena Segala, Massimiliano Alfano, Francesca Gaffuri, Giovanni Marturano, Paola Casati, Piero Attilio Bianco, and Massimo Delledonne

    MDPI AG
    Rapid and sensitive assays for the identification of plant pathogens are necessary for the effective management of crop diseases. The main limitation of current diagnostic testing is the inability to combine broad and sensitive pathogen detection with the identification of key strains, pathovars, and subspecies. Such discrimination is necessary for quarantine pathogens, whose management is strictly dependent on genotype identification. To address these needs, we have established and evaluated a novel all-in-one diagnostic assay based on nanopore sequencing for the detection and simultaneous characterization of quarantine pathogens, using Xylella fastidiosa as a case study. The assay proved to be at least as sensitive as standard diagnostic tests and the quantitative results agreed closely with qPCR-based analysis. The same sequencing results also allowed discrimination between subspecies when present either individually or in combination. Pathogen detection and typing were achieved within 13 min of sequencing owing to the use of an internal control that allowed to stop sequencing when sufficient data had accumulated. These advantages, combined with the use of portable equipment, will facilitate the development of next-generation diagnostic assays for the efficient monitoring of other plant pathogens.

RECENT SCHOLAR PUBLICATIONS

  • Differentiation of long Non-Coding RNA expression profiles in three Fruiting stages of grape
    S Sahraei, N Mahdinezhad, A Emamjomeh, K Kavousi, M Solouki, ...
    Gene 934, 149029 2025

  • Transcriptomic analysis reveals role of lncRNA LOC100257036 to regulate AGAMOUS during cluster compactness of Vitis vinifera cv. sistan yaghooti
    S Sahraei, N Mahdinezhad, A Emamjomeh, K Kavousi, M Solouki, ...
    Scientific Reports 14 (1), 28331 2024

  • Adaptive gene loss in the common bean pan-genome during range expansion and domestication
    G Cortinovis, L Vincenzi, R Anderson, G Marturano, JI Marsh, PE Bayer, ...
    Nature communications 15 (1), 6698 2024

  • Haematococcus lacustris genome assembly and annotation reveal diploid genetic traits and stress-induced gene expression patterns
    L Marcolungo, F Bellamoli, M Cecchin, G Lopatriello, M Rossato, ...
    Algal Research, 103567 2024

  • Molecular and Serological Detection of Bovine Coronaviruses in Marmots (Marmota marmota) in the Alpine Region
    A Moreno, S Canziani, D Lelli, A Castelli, A Bianchi, I Bertoletti, ...
    Viruses 16 (4), 591 2024

  • Changes in the Adaptive Cellular Repertoire after Infection with Different SARS-CoV-2 VOCs in a Cohort of Vaccinated Healthcare Workers
    S Caldrer, S Accordini, C Mazzi, N Tiberti, M Deiana, A Matucci, E Rizzi, ...
    Vaccines 12 (3), 230 2024

  • Genotype combinations drive variability in the microbiome configuration of the rhizosphere of maize/bean intercropping system
    G Lanzavecchia, G Frascarelli, L Rocchetti, E Bellucci, E Bitocchi, ...
    International Journal of Molecular Sciences 25 (2), 1288 2024

  • Shifts in the Endophyte Microbial Communities of Tetraploid Wheat in Evolution-Mimicking Mixture
    G Lanzavecchia, R Ronconi, L Rocchetti, G Frascarelli, E Bellucci, ...
    Plant and Animal Genome Conference/PAG 31 (January 12-17, 2024) 2024

  • Correlation between microbial communities and volatile organic compounds in an urban soil provides clues on soil quality towards sustainability of city flowerbeds
    F Sillo, L Neri, A Calvo, E Zampieri, G Petruzzelli, I Ferraris, M Delledonne, ...
    Heliyon 10 (1) 2024

  • Unveiling the Genetic Bases of Chickpea Agronomic Traits in the European and Mediterranean Environment.
    L Rochetti, M Rodriguez, C Santamarina, A Tosoroni, A Pieri, S Papalini, ...
    Plant and Animal Genome Conference/PAG 31 (January 12-17, 2024) 2024

  • Genetic Diversity in Lentil Italian Landraces Genotyped By a CRISPR-Cas9-Based Depletion Approach
    S Papalini, G Frascarelli, A Pieri, V Di Vittori, L Russi, L De Antoni, ...
    Plant and Animal Genome Conference/PAG 31 (January 12-17, 2024) 2024

  • Landscape genomics highlights the adaptive evolution of chickpea
    L Rocchetti, M Rodriguez, A Pieri, S Papalini, L De Antoni, E Vitali, ...
    bioRxiv, 2024.06. 06.597750 2024

  • A new, unusually large, Clavicornaltica Scherer, 1974 flea beetle from Borneo, described and sequenced in the field by citizen scientists (Coleoptera, Chrysomelidae, Galerucinae)
    S Otani, L Bertoli, F Lucchini, TPG van den Beuken, D Boin, L Ellis, ...
    Biodiversity Data Journal 12 2024

  • The unexplored diversity of wild lupins provides rich genomic resources and insights into lupin evolution
    K Susek, E Franco, M Tomaszewska, M Kroc, H Jamil, U Tanwar, ...
    bioRxiv, 2024.03. 07.583883 2024

  • Comparative analysis of bioinformatics tools to characterize SARS-CoV-2 subgenomic RNAs
    D Lavezzari, A Mori, E Pomari, M Deiana, A Fadda, L Bertoli, A Sinigaglia, ...
    Life Science Alliance 6 (12) 2023

  • Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes
    C Giovenino, S Trajkova, L Pavinato, S Cardaropoli, V Pullano, E Ferrero, ...
    European Journal of Human Genetics 31 (11), 1228-1236 2023

  • The evolutionary history of the common bean (Phaseolus vulgaris) revealed by chloroplast and nuclear genomes
    G Frascarelli, TR Galise, N D’Agostino, D Cafasso, S Cozzolino, ...
    bioRxiv, 2023.06. 09.544374 2023

  • An isoform of the giant protein titin is a master regulator of human T lymphocyte trafficking
    L Toffali, B D’Ulivo, C Giagulli, A Montresor, E Zenaro, M Delledonne, ...
    Cell Reports 42 (5) 2023

  • CRISPR-Cas9-based repeat depletion for high-throughput genotyping of complex plant genomes
    M Rossato, L Marcolungo, L De Antoni, G Lopatriello, E Bellucci, ...
    Genome Research 33 (5), 787-797 2023

  • Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation
    US Melo, J Jatzlau, CA Prada-Medina, E Flex, S Hartmann, S Ali, ...
    nature communications 14 (1), 2034 2023

MOST CITED SCHOLAR PUBLICATIONS

  • The grapevine genome sequence suggests ancestral hexaploidization in major angiosperm phyla
    French
    nature 449 (7161), 463-467 2007
    Citations: 4013

  • Nitric oxide functions as a signal in plant disease resistance
    M Delledonne, Y Xia, RA Dixon, C Lamb
    Nature 394 (6693), 585-588 1998
    Citations: 2518

  • Phased diploid genome assembly with single-molecule real-time sequencing
    CS Chin, P Peluso, FJ Sedlazeck, M Nattestad, GT Concepcion, A Clum, ...
    Nature methods 13 (12), 1050-1054 2016
    Citations: 1854

  • Signal interactions between nitric oxide and reactive oxygen intermediates in the plant hypersensitive disease resistance response
    M Delledonne, J Zeier, A Marocco, C Lamb
    Proceedings of the National Academy of Sciences 98 (23), 13454-13459 2001
    Citations: 1389

  • The involvement of cysteine proteases and protease inhibitor genes in the regulation of programmed cell death in plants
    M Solomon, B Belenghi, M Delledonne, E Menachem, A Levine
    The Plant Cell 11 (3), 431-443 1999
    Citations: 984

  • NO news is good news for plants
    M Delledonne
    Current opinion in plant biology 8 (4), 390-396 2005
    Citations: 623

  • Characterization of Transcriptional Complexity during Berry Development in Vitis vinifera Using RNA-Seq
    S Zenoni, A Ferrarini, E Giacomelli, L Xumerle, M Fasoli, G Malerba, ...
    Plant physiology 152 (4), 1787-1795 2010
    Citations: 424

  • Arabidopsis nonsymbiotic hemoglobin AHb1 modulates nitric oxide bioactivity
    M Perazzolli, P Dominici, MC Romero-Puertas, E Zago, J Zeier, M Sonoda, ...
    The Plant Cell 16 (10), 2785-2794 2004
    Citations: 421

  • S-nitrosylation of peroxiredoxin II E promotes peroxynitrite-mediated tyrosine nitration
    MC Romero-Puertas, M Laxa, A Matte, F Zaninotto, I Finkemeier, ...
    The Plant Cell 19 (12), 4120-4130 2007
    Citations: 403

  • Genome analysis of Bifidobacterium bifidum PRL2010 reveals metabolic pathways for host-derived glycan foraging
    F Turroni, F Bottacini, E Foroni, I Mulder, JH Kim, A Zomer, B Snchez, ...
    Proceedings of the National Academy of Sciences 107 (45), 19514-19519 2010
    Citations: 400

  • The grapevine expression atlas reveals a deep transcriptome shift driving the entire plant into a maturation program
    M Fasoli, S Dal Santo, S Zenoni, GB Tornielli, L Farina, A Zamboni, ...
    The Plant Cell 24 (9), 3489-3505 2012
    Citations: 383

  • Insight into the evolution of the Solanaceae from the parental genomes of Petunia hybrida
    A Bombarely, M Moser, A Amrad, M Bao, L Bapaume, CS Barry, M Bliek, ...
    Nature plants 2 (6), 1-9 2016
    Citations: 381

  • Decreased epigenetic age of PBMCs from Italian semi-supercentenarians and their offspring
    S Horvath, C Pirazzini, MG Bacalini, D Gentilini, AM Di Blasio, ...
    Aging (Albany NY) 7 (12), 1159 2015
    Citations: 365

  • Nitric oxide signalling functions in plant–pathogen interactions
    MC Romero‐Puertas, M Perazzolli, ED Zago, M Delledonne
    Cellular Microbiology 6 (9), 795-803 2004
    Citations: 321

  • Annotating genomes with massive-scale RNA sequencing
    F Denoeud, JM Aury, C Da Silva, B Noel, O Rogier, M Delledonne, ...
    Genome biology 9, 1-12 2008
    Citations: 314

  • Proteomic analysis of S‐nitrosylated proteins in Arabidopsis thaliana undergoing hypersensitive response
    MC Romero‐Puertas, N Campostrini, A Matt, PG Righetti, M Perazzolli, ...
    Proteomics 8 (7), 1459-1469 2008
    Citations: 306

  • MYO1E mutations and childhood familial focal segmental glomerulosclerosis
    C Mele, P Iatropoulos, R Donadelli, A Calabria, R Maranta, P Cassis, ...
    New England Journal of Medicine 365 (4), 295-306 2011
    Citations: 296

  • NO signals in the haze: nitric oxide signalling in plant defence
    M Leitner, E Vandelle, F Gaupels, D Bellin, M Delledonne
    Current opinion in plant biology 12 (4), 451-458 2009
    Citations: 294

  • Metacaspase activity of Arabidopsis thaliana is regulated by S-nitrosylation of a critical cysteine residue
    B Belenghi, MC Romero-Puertas, D Vercammen, A Brackenier, D Inz, ...
    Journal of Biological Chemistry 282 (2), 1352-1358 2007
    Citations: 294

  • Role of sortase-dependent pili of Bifidobacterium bifidum PRL2010 in modulating bacterium–host interactions
    F Turroni, F Serafini, E Foroni, S Duranti, M O’Connell Motherway, ...
    Proceedings of the National Academy of Sciences 110 (27), 11151-11156 2013
    Citations: 264