MicroRNA dysregulation in ataxia telangiectasia

Autor: Emilia Cirillo, Antonietta Tarallo, Elisabetta Toriello, Annamaria Carissimo, Giuliana Giardino, Antonio De Rosa, Carla Damiano, Annarosa Soresina, Raffaele Badolato, Rosa Maria Dellepiane, Lucia A. Baselli, Maria Carrabba, Giovanna Fabio, Patrizia Bertolini, Davide Montin, Francesca Conti, Roberta Romano, Elisa Pozzi, Giulio Ferrero, Roberta Roncarati, Manuela Ferracin, Alfredo Brusco, Giancarlo Parenti, Claudio Pignata

Publikováno v: Frontiers in Immunology, Vol 15 (2024)

IntroductionAtaxia telangiectasia (AT) is a rare disorder characterized by neurodegeneration, combined immunodeficiency, a predisposition to malignancies, and high clinical variability. Profiling of microRNAs (miRNAs) may offer insights into the unde

Externí odkaz: https://doaj.org/article/fcaa1e5e99644d8590fe1280ba7fae17

Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease

Autor: Antonietta Tarallo, Carla Damiano, Sandra Strollo, Nadia Minopoli, Alessia Indrieri, Elena Polishchuk, Francesca Zappa, Edoardo Nusco, Simona Fecarotta, Caterina Porto, Marcella Coletta, Roberta Iacono, Marco Moracci, Roman Polishchuk, Diego Luis Medina, Paola Imbimbo, Daria Maria Monti, Maria Antonietta De Matteis, Giancarlo Parenti

Publikováno v: EMBO Molecular Medicine, Vol 13, Iss 11, Pp 1-21 (2021)

Abstract Pompe disease is a metabolic myopathy due to acid alpha‐glucosidase deficiency. In addition to glycogen storage, secondary dysregulation of cellular functions, such as autophagy and oxidative stress, contributes to the disease pathophysiol

Externí odkaz: https://doaj.org/article/c9d76b1dfda5478da27f60239b67fa37

Carnitine is a pharmacological allosteric chaperone of the human lysosomal α-glucosidase

Autor: Roberta Iacono, Nadia Minopoli, Maria Carmina Ferrara, Antonietta Tarallo, Carla Damiano, Caterina Porto, Sandra Strollo, Véronique Roig-Zamboni, Gianfranco Peluso, Gerlind Sulzenbacher, Beatrice Cobucci-Ponzano, Giancarlo Parenti, Marco Moracci

Publikováno v: Journal of Enzyme Inhibition and Medicinal Chemistry, Vol 36, Iss 1, Pp 2068-2079 (2021)

Pompe disease is an inherited metabolic disorder due to the deficiency of the lysosomal acid α-glucosidase (GAA). The only approved treatment is enzyme replacement therapy with the recombinant enzyme (rhGAA). Further approaches like pharmacological

Externí odkaz: https://doaj.org/article/7db4e2f4002a4340b38daa8d1bb2c018

Carnitine is a pharmacological allosteric chaperone of the human lysosomal α-glucosidase

Autor: Sandra Strollo, Gianfranco Peluso, Caterina Porto, Gerlind Sulzenbacher, Carla Damiano, Nadia Minopoli, Antonietta Tarallo, Marco Moracci, Véronique Roig-Zamboni, Giancarlo Parenti, Beatrice Cobucci-Ponzano, Maria Carmina Ferrara, Roberta Iacono

Publikováno v: Journal of Enzyme Inhibition and Medicinal Chemistry
article-version (VoR) Version of Record
Journal of enzyme inhibition and medicinal chemistry
36 (2021): 2068–2079. doi:10.1080/14756366.2021.1975694
info:cnr-pdr/source/autori:Iacono, Roberta; Minopoli, Nadia; Ferrara, Maria Carmina; Tarallo, Antonietta; Damiano, Carla; Porto, Caterina; Strollo, Sandra; Roig-Zamboni, Veronique; Peluso, Gianfranco; Sulzenbacher, Gerlind; Cobucci-Ponzano, Beatrice; Parenti, Giancarlo; Moracci, Marco/titolo:Carnitine is a pharmacological allosteric chaperone of the human lysosomal alpha-glucosidase/doi:10.1080%2F14756366.2021.1975694/rivista:Journal of enzyme inhibition and medicinal chemistry (Print)/anno:2021/pagina_da:2068/pagina_a:2079/intervallo_pagine:2068–2079/volume:36
Journal of Enzyme Inhibition and Medicinal Chemistry, Informa Healthcare, 2021, 36 (1), pp.2068-2079. ⟨10.1080/14756366.2021.1975694⟩
Journal of Enzyme Inhibition and Medicinal Chemistry, Vol 36, Iss 1, Pp 2068-2079 (2021)
Journal of Enzyme Inhibition and Medicinal Chemistry, 2021, 36 (1), pp.2068-2079. ⟨10.1080/14756366.2021.1975694⟩

International audience; Pompe disease is an inherited metabolic disorder due to the deficiency of the lysosomal acid α-glucosidase (GAA). The only approved treatment is enzyme replacement therapy with the recombinant enzyme (rhGAA). Further approach

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cccde6b8d490ed35096955d6bfb78ef
http://europepmc.org/articles/PMC8477953

Protective action of Bacillus clausii probiotic strains in an in vitro model of Rotavirus infection

Autor: Cristina Bruno, Carla Damiano, Roberto Berni Canani, Laura Pisapia, Lucio Pastore, Lorella Tripodi, Lorella Paparo

Publikováno v: Scientific Reports, Vol 10, Iss 1, Pp 1-10 (2020)
Scientific Reports

Rotavirus is the most common cause of acute gastroenteritis (AGE) in young children. Bacillus clausii (B. clausii) is a spore-forming probiotic that is able to colonize the gut. A mixture of four B. clausii strains (O/C, T, SIN and N/R) is commonly u

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e7957d435c7c95707b0dd208bc5a280
http://link.springer.com/article/10.1038/s41598-020-69533-7