Valeria Sabatino

The utility of chorionic villus sample cells for functionally assessing Noonan syndrome variants

Nicolina Zjacic, Gabriele Siegel, Valeria Sabatino, Martina Mocera et autres

Noonan syndrome (NS) is a congenital disorder that causes pleiotropic developmental problems of varying severity. Its main cause is gain-of-function mutations in genes of the essential Ras-mitogen-activated protein kinase (Ras/MAPK) pathway. There are currently no routine functional tests available for prenatal cases …

The utility of chorionic villus sample cells for functionally assessing noonan syndrome variants

Nicolina Zjacic, Gabriele Siegel, Valeria Sabatino, Martina Mocera et autres

Abstract Background and aims Noonan syndrome (NS) is a congenital disorder that causes pleiotropic developmental problems of varying severity. Its main cause is gain-of-function mutations in genes of the essential Ras-mitogen-activated protein kinase (Ras/MAPK) pathway. There are currently no routine functional tests …

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Gliding motility of the diatom Craspedostauros australis coincides with the intracellular movement of raphid-specific myosins

Metin Gabriel Davutoglu, Veikko F. Geyer, Lukas Niese, Marcelo Zoccoler et autres

Raphid diatoms are one of the few eukaryotes capable of gliding motility, which is remarkably fast and allows for quasi-instantaneous directional reversals. Besides other mechanistic models, it has been suggested that an actomyosin system provides the force for diatom gliding. However, in …

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Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling

Paranchai Boonsawat, Reza Asadollahi, Dunja Niedrist, Katharina Steindl et autres

Zinc and RING finger 3 (ZNRF3) is a negative-feedback regulator of Wnt/β-catenin signaling, which plays an important role in human brain development. Although somatically frequently mutated in cancer, germline variants in ZNRF3 have not been established as causative for neurodevelopmental disorders (NDDs). …

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De novo transcriptome assembly of a lipoxygenase knock-down strain in the diatom Pseudo-nitzschia arenysensis

Pina Marotta, Valeria Sabatino, Luca Ambrosino, Marco Miralto et autres

Diatoms are microalgae that live in marine and freshwater environments and are responsible for about 20% of the world's carbon fixation. Population dynamics of these cells is finely regulated by intricate signal transduction systems, in which oxylipins are thought to play a …

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De novo transcriptome assembly of a lipoxygenase knock-down strain in the diatom Pseudo-nitzschia arenysensis

Pina Marotta, Valeria Sabatino, Luca Ambrosino, Marco Miralto et autres

We generated knock-down mutants for the LOX gene of the diatom Pseudo-nitzschia arenysensis to alter the synthesis of oxylipins and functionally investigate the mechanism of action of these metabolites in diatoms (as described in Sabatino et al., New Phyt. (2021) doi: 10.1111/NPH.17739). …

De novo transcriptome assembly of a lipoxygenase knock-down strain in the diatom Pseudo-nitzschia arenysensis

Pina Marotta, Valeria Sabatino, Luca Ambrosino, Marco Miralto et autres

We generated knock-down mutants for the LOX gene of the diatom Pseudo-nitzschia arenysensis to alter the synthesis of oxylipins and functionally investigate the mechanism of action of these metabolites in diatoms. Here, we present the functional classification of the transcript sequences obtained …

De novo transcriptome assembly of a lipoxygenase knock-down strain in the diatom Pseudo-nitzschia arenysensis

Pina Marotta, Valeria Sabatino, Luca Ambrosino, Marco Miralto et autres

We generated knock-down mutants for the LOX gene of the diatom Pseudo-nitzschia arenysensis to alter the synthesis of oxylipins and functionally investigate the mechanism of action of these metabolites in diatoms (as described in Sabatino et al., New Phyt. (2021) doi: 10.1111/NPH.17739). …

Silencing of a Pseudo‐nitzschia arenysensis lipoxygenase transcript leads to reduced oxylipin production and impaired growth

Valeria Sabatino, Ida Orefice, Pina Marotta, Luca Ambrosino et autres

Because of their importance as chemical mediators, the presence of a rich and varied family of lipoxygenase (LOX) products, collectively named oxylipins, has been investigated thoroughly in diatoms, and the involvement of these products in important processes such as bloom regulation has …

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Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking

Pasquale Piccolo, Valeria Sabatino, Pratibha Mithbaokar, Elena Polishchuck et autres

Geleophysic dysplasia (GPHYSD1, MIM231050; GPHYSD2, MIM614185; GPHYSD3, MIM617809) is an autosomal disorder characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, and laryngotracheal stenosis. Mutations in ADAMTSL2, FBN1, and LTBP3 genes are responsible for this condition. We found that three previously described cases …

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Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect

Pasquale Piccolo, Valeria Sabatino, Pratibha Mithbaokar, Elena Polishchuk et autres

BACKGROUND: Geleophysic dysplasia (GPHYSD) is a disorder characterized by dysmorphic features, stiff joints and cardiac involvement due to defects of TGF-β signaling. GPHYSD can be caused by mutations in FBN1, ADAMTLS2, and LTBP3 genes. METHODS AND RESULTS: Consistent with previous reports, we …

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Grazer-induced transcriptomic and metabolomic response of the chain-forming diatom Skeletonema marinoi

Alberto Amato, Valeria Sabatino, Göran M. Nylund, Johanna Bergkvist et autres

Diatoms and copepods are main actors in marine food webs. The prey-predator interactions between them affect bloom dynamics, shape marine ecosystems and impact the energy transfer to higher trophic levels. Recently it has been demonstrated that the presence of grazers may affect …

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