المؤلفون: Emilia Stellacci, Marcello Niceta, Alessandro Bruselles, Emilio Straface, Massimo Tatti, Mattia Carvetta, Cecilia Mancini, Serena Cecchetti, Mariacristina Parravano, Lucilla Barbano, Monica Varano, Marco Tartaglia, Lucia Ziccardi, Viviana Cordeddu

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 15, p 8313 (2024)

مصطلحات موضوعية: whole genome sequencing, BBS9, structural variant, Bardet–Biedl syndrome, ciliopathy, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/25/15/8313; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/89b5b2200ec54b0c873ca9b70600b81d

المؤلفون: Valeria Barreca, Zaira Boussadia, Deborah Polignano, Lorenzo Galli, Valentina Tirelli, Massimo Sanchez, Mario Falchi, Lucia Bertuccini, Francesca Iosi, Massimo Tatti, Massimo Sargiacomo, Maria Luisa Fiani

المصدر: Journal of Extracellular Vesicles, Vol 12, Iss 12, Pp n/a-n/a (2023)

مصطلحات موضوعية: exosome biogenesis, exosomes, extracellular vesicles, lipid metabolism, MVB, sEV, Cytology, QH573-671

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2001-3078

URL الوصول: https://doaj.org/article/de5c4e595d0f4b6584f5e79203456252

المؤلفون: Lucia Ziccardi, Marcello Niceta, Emilia Stellacci, Andrea Ciolfi, Massimo Tatti, Alessandro Bruselles, Cecilia Mancini, Lucilla Barbano, Serena Cecchetti, Eliana Costanzo, Marco Cappa, Mariacristina Parravano, Monica Varano, Marco Tartaglia, Viviana Cordeddu

المصدر: International Journal of Molecular Sciences, Vol 23, Iss 23, p 14656 (2022)

مصطلحات موضوعية: inherited retinal degeneration, whole exome sequencing, primary cilium, homozygous splice site variant, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/23/23/14656; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/e666bf03b49a432793e9c39a8543988c

المؤلفون: Laura Mercurio, Francesca Megiorni, Chiara Leoni, Daniele Pietrucci, Teresa Rizza, Egidio Iorio, Giuseppe Zampino, Giovanna Carpentieri, Massimo Tatti, Simona Camero, Serena Cecchetti, Elisabetta Flex, Roberta Onesimo, Giovanni Chillemi, Cinzia Marchese, Valentina Tirelli, Donatella Pietraforte, Rosalba Carrozzo, Sara Rinalducci, Michela Di Nottia, Deborah Pajalunga, Antonio Belardo, Marco Tartaglia

المصدر: Human Molecular Genetics. 31:561-575

مصطلحات موضوعية: Fibroblasts, humans, oxidation-reduction, Phosphatidylinositol 3-kinases, proto-oncogene proteins p21(ras), signal transduction, Costello syndrome, Biology, Proto-Oncogene Proteins p21(ras), Wortmannin, Phosphatidylinositol 3-Kinases, chemistry.chemical_compound, Lipid droplet, Genetics, medicine, Humans, Glycolysis, HRAS, Molecular Biology, Genetics (clinical), Costello Syndrome, Glucose transporter, General Medicine, medicine.disease, Cell biology, chemistry, biology.protein, Oxidation-Reduction, Flux (metabolism), GLUT4, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39d78c26b3094248ad82925be380ac68
https://doi.org/10.1093/hmg/ddab270

المؤلفون: Fiani, Maria L., Barreca, Valeria, Deborah, Polignano, Lorenzo, Galli, Valentina, Tirelli, Massimo, Sanchez, Mario, Falchi, Lucia, Bertuccini, Massimo, Tatti, Massimo, Sargiacomo

مصطلحات موضوعية: lipids, exosomes, lipids, biogenesis, sEV, exosomes, biogenesis, sEV

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3686::cef76ef0407f098e9377f2e700f56fc1
http://hdl.handle.net/11573/1635027

المؤلفون: Fiorella Ciaffoni, Massimo Tatti, Alessandra Boe, Rosa Salvioli, Arvan Fluharty, Sandro Sonnino, Anna Maria Vaccaro

المصدر: Journal of Lipid Research, Vol 47, Iss 5, Pp 1045-1053 (2006)

مصطلحات موضوعية: phospholipid binding, phospholipid transfer, Saposin-membrane interaction, Biochemistry, QD415-436

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0022227520332533; https://doaj.org/toc/0022-2275

URL الوصول: https://doaj.org/article/7d68ec2c5c7b4457ac9f8ef33ef8aecf

المؤلفون: Marco Tartaglia, Eric W. Klee, Laura Reed, Daniela Melis, Brendan C. Lanpher, Katherine S. Josephs, Meriel McEntagart, Deciphering Developmental Disorders Study, Bert Callewaert, Jessica M. Tarnowski, Francesca Pantaleoni, Viviana Cordeddu, Isabella Mammi, Stefania Lo Cicero, Katherine C. Nickels, Andrea Haworth, Francesca Clementina Radio, Alessandro Bruselles, Bruno Dallapiccola, Gerarda Cappuccio, Antonio Novelli, Nicola Brunetti-Pierri, Massimo Tatti, Andrea Ciolfi, Emanuele Agolini, Emanuele Bellacchio, Mohnish Suri, Erica L. Macke

المساهمون: Cordeddu, V., Macke, E. L., Radio, F. C., Lo Cicero, S., Pantaleoni, F., Tatti, M., Bellacchio, E., Ciolfi, A., Agolini, E., Bruselles, A., Brunetti-Pierri, Nicola, Suri, M., Josephs, K. S., Mcentagart, M., Lanpher, B., Nickels, K. C., Haworth, A., Reed, L., Cappuccio, G., Mammi, I., Tarnowski, J. M., Novelli, A., Melis, D., Callewaert, B., Dallapiccola, B., Klee, E., Tartaglia, M.

مصطلحات موضوعية: 0301 basic medicine, Heart Defects, Congenital, Male, Deficiency syndrome, genotype-phenotype correlations, UBE2A, clinical variation, intellectual disability Nascimento type, mutation spectrum, 030105 genetics & heredity, Protein degradation, genotype-phenotype correlation, Hypogammaglobulinemia, 03 medical and health sciences, Pineal gland, Intellectual Disability, Intellectual disability, Genetics, medicine, Missense mutation, Humans, Genetic Predisposition to Disease, Genetics (clinical), Genitourinary system, business.industry, Infant, Genetic Diseases, X-Linked, medicine.disease, Pedigree, 030104 developmental biology, medicine.anatomical_structure, Child, Preschool, Urogenital Abnormalities, Ubiquitin-Conjugating Enzymes, Skin Abnormalities, Female, business, Binding domain

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aaab7a30255dd86989b8f828210e6042
http://hdl.handle.net/11386/4748596

المؤلفون: R. Manara, Marialetizia Motta, Giulia Polo, Alessandro P. Burlina, Francesca Furlan, Vincenzo Nigro, Rosa Salvioli, Andrea Celato, Marco Tartaglia, Massimo Tatti, G. Di Fruscio

المصدر: Clinical Genetics. 90:220-229

مصطلحات موضوعية: 0301 basic medicine, Prosaposin, Sanger sequencing, PROSAPOSIN DEFICIENCY, medicine.diagnostic_test, Magnetic resonance imaging, Consanguinity, Biology, Bioinformatics, Sphingolipid, 03 medical and health sciences, symbols.namesake, 030104 developmental biology, 0302 clinical medicine, Genetics, medicine, symbols, Brain magnetic resonance imaging, Gene, 030217 neurology & neurosurgery, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0486ea217e7b366f71bdc6c21a711a5f
https://doi.org/10.1111/cge.12753

المؤلفون: Marialetizia Motta, Serena Camerini, Rosa Salvioli, Paola Torreri, Marco Crescenzi, Massimo Tatti, Marco Tartaglia, Marialuisa Casella

المصدر: Human Molecular Genetics. 23:5814-5826

مصطلحات موضوعية: Models, Molecular, Protein Conformation, Proteolysis, Molecular Sequence Data, Mutant, Gene Expression, Biology, medicine.disease_cause, Mass Spectrometry, Saposins, Cell Line, Protein structure, Genetics, medicine, Animals, Humans, Amino Acid Sequence, Molecular Biology, Peptide sequence, Genetics (clinical), Mutation, Gaucher Disease, medicine.diagnostic_test, Protein Stability, General Medicine, Glucosylceramidase, Transport protein, Protein Transport, Biochemistry, Lysosomes, Sequence Alignment, Cysteine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ce962cf5025656cc23c6e8b7da28c00
https://doi.org/10.1093/hmg/ddu299

المؤلفون: Marco Tartaglia, Serena Camerini, Marco Crescenzi, Rosa Salvioli, Simone Martinelli, Susanna Scarpa, Marialetizia Motta, Massimo Tatti

المصدر: Protein Expression and Purification. 78:209-215

مصطلحات موضوعية: affinity chromatography, mass spectrometry, sphingolipid activator protein, protein-anionic phospholipids interactions, overexpression, endocytosis, Blotting, Western, Biology, Endocytosis, Chromatography, Affinity, Mass Spectrometry, Saposins, law.invention, Affinity chromatography, law, Protein purification, Humans, Cells, Cultured, chemistry.chemical_classification, Chromatography, Vesicle, Fibroblasts, Recombinant Proteins, In vitro, Glucosylceramidase, Microscopy, Fluorescence, Biochemistry, chemistry, Recombinant DNA, Electrophoresis, Polyacrylamide Gel, Glycoprotein, Biotechnology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::654f702208bf57e579ce2df706b1115b
https://doi.org/10.1016/j.pep.2011.03.015