Výsledky vyhledávání - "Martina Masotti"

Akademický článek

Histone Acetylation Defects in Brain Precursor Cells: A Potential Pathogenic Mechanism Causing Proliferation and Differentiation Dysfunctions in Mitochondrial Aspartate-Glutamate Carrier Isoform 1 Deficiency

Autor: Eleonora Poeta, Sabrina Petralla, Giorgia Babini, Brunaldo Renzi, Luigi Celauro, Maria Chiara Magnifico, Simona Nicole Barile, Martina Masotti, Francesca De Chirico, Francesca Massenzio, Luigi Viggiano, Luigi Palmieri, Marco Virgili, Francesco Massimo Lasorsa, Barbara Monti

Publikováno v: Frontiers in Cellular Neuroscience, Vol 15 (2022)

Mitochondrial aspartate-glutamate carrier isoform 1 (AGC1) deficiency is an ultra-rare genetic disease characterized by global hypomyelination and brain atrophy, caused by mutations in the SLC25A12 gene leading to a reduction in AGC1 activity. In bot

Externí odkaz: https://doaj.org/article/3c826b154e7040839093fa65e45936ff

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Abstract 3364: Combined enrichment of plasma EpCAM-positive extracellular vesicles (EVs) and circulating tumor cells (CTCs) from a single tube of cancer patient blood samples, for subsequent molecular analysis

Autor: Giulia Bregola, Martina Masotti, Valentina Mattei, Martina Moras, Claudio Ratti, Francesco Picardo, Cecilia Simonelli, Nicolò Manaresi, Francesca Fontana

Publikováno v: Cancer Research. 83:3364-3364

Background: EVs are secreted by cells in physiological and pathological conditions and carry selected molecules, such as proteins, DNA and RNA; specific EVs released by neoplastic cells are defined as “tumor-derived extracellular vesicles (tdEVs)�

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::582e442a8adf8525783ae91d361ed77c
https://doi.org/10.1158/1538-7445.am2023-3364

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Altered globotriaosylceramide accumulation and mucosal neuronal fiber density in the colon of the Fabry disease mouse model

Autor: Juan Politei, Marco Caprini, Giovanni Dothel, Vincenzo Donadio, Martina Masotti, Roberto Rimondini, Rocco Liguori, Cecilia Delprete

Publikováno v: Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society. 31(3)

Background Fabry disease (FD) is a hereditary X-linked metabolic storage disorder characterized by deficient or absent lysosomal α-galactosidase A (α-Gal A) activity. This deficiency causes progressive accumulation of glycosphingolipids, primarily

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34f259122e8d4f5f2337c49867c70a8b
https://pubmed.ncbi.nlm.nih.gov/30609268

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