C
Carolina Uggenti
Researcher at University of Edinburgh
Publications - 27
Citations - 1153
Carolina Uggenti is an academic researcher from University of Edinburgh. The author has contributed to research in topics: Interferon & Gene. The author has an hindex of 13, co-authored 25 publications receiving 721 citations. Previous affiliations of Carolina Uggenti include University of Paris & French Institute of Health and Medical Research.
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Journal ArticleDOI
Type I interferon-mediated autoinflammation due to DNase II deficiency
Mathieu P Rodero,Alessandra Tesser,Eva Bartok,Gillian I. Rice,Erika Della Mina,Marine Depp,Benoit Beitz,Vincent Bondet,Vincent Bondet,Nicolas Cagnard,Darragh Duffy,Darragh Duffy,Michael Dussiot,Marie-Louise Frémond,Marco Gattorno,Flavia Guillem,Naoki Kitabayashi,Fabrice Porcheray,Frédéric Rieux-Laucat,Frédéric Rieux-Laucat,Luis Seabra,Carolina Uggenti,Stefano Volpi,Leo A. H. Zeef,Marie Alexandra Alyanakian,Jacques Beltrand,Jacques Beltrand,Anna Monica Bianco,Nathalie Boddaert,Nathalie Boddaert,Chantal Brouzes,Sophie Candon,Roberta Caorsi,Marina Charbit,Monique Fabre,Flavio Faletra,Muriel Girard,Muriel Girard,Annie Harroche,Evelyn Hartmann,Evelyn Hartmann,Dominique Lasne,Dominique Lasne,Annalisa Marcuzzi,Bénédicte Neven,Bénédicte Neven,Bénédicte Neven,Patrick Nitschke,Tiffany Pascreau,Tiffany Pascreau,Serena Pastore,Capucine Picard,Paolo Picco,Elisa Piscianz,Michel Polak,Michel Polak,Pierre Quartier,Pierre Quartier,Pierre Quartier,Marion Rabant,Gabriele Stocco,Andrea Taddio,Florence Uettwiller,Florence Uettwiller,Florence Uettwiller,Erica Valencic,Diego Vozzi,Gunther Hartmann,Winfried Barchet,Olivier Hermine,Brigitte Bader-Meunier,Brigitte Bader-Meunier,Alberto Tommasini,Yanick J. Crow +73 more
TL;DR: Loss-of-function mutations in the DNASE2 gene are identified that cause type I interferon-mediated autoinflammation due to enhanced systemicinterferon signaling and are defined as a type I Interferonopathy due to DNase II deficiency in humans.
Journal ArticleDOI
Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling
Isabelle Melki,Yoann Rose,Carolina Uggenti,Lien Van Eyck,Marie-Louise Frémond,Naoki Kitabayashi,Gillian I. Rice,Emma M. Jenkinson,Anais Boulai,Nadia Jeremiah,Marco Gattorno,Stefano Volpi,Olivero Sacco,Suzanne W J Terheggen-Lagro,Harm A.W.M. Tiddens,Isabelle Meyts,Marie-Anne Morren,Petra De Haes,Carine Wouters,Eric Legius,Anniek Corveleyn,Frédéric Rieux-Laucat,Christine Bodemer,Isabelle Callebaut,Mathieu P Rodero,Yanick J. Crow,Yanick J. Crow,Yanick J. Crow +27 more
TL;DR: Structural analysis indicates that the 3 disease‐associated mutations at positions 206, 281, and 284 of the STING protein define a novel cluster of amino acids with functional importance in the regulation of type I interferon signaling.
Journal ArticleDOI
The analgesic effect on neuropathic pain of retrogradely transported botulinum neurotoxin A involves Schwann cells and astrocytes.
Sara Marinelli,Valentina Vacca,Ruggero Ricordy,Carolina Uggenti,Ada Maria Tata,Siro Luvisetto,Flaminia Pavone +6 more
TL;DR: It is found that BoNT/A modulates the proliferation of SC and inhibits the acetylcholine release from SC, evidencing a new biological effect of the toxin and further supporting the retrograde transport of the toxins along the nerve and its ability to influence regenerative processes.
Journal ArticleDOI
Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling.
Alice Lepelley,Maria José Martin-Niclos,Melvin Le Bihan,Joseph A. Marsh,Carolina Uggenti,Gillian I. Rice,Vincent Bondet,Vincent Bondet,Darragh Duffy,Darragh Duffy,Jonny Hertzog,Jan Rehwinkel,Serge Amselem,Serge Amselem,Siham Boulisfane-El Khalifi,Mary Brennan,Edwin Carter,Lucienne Chatenoud,Lucienne Chatenoud,Lucienne Chatenoud,Stéphanie Chhun,Stéphanie Chhun,Stéphanie Chhun,Aurore Coulomb L'Hermine,Marine Depp,Marie Legendre,Marie Legendre,Karen J. Mackenzie,Jonathan Marey,Catherine McDougall,Kathryn J. McKenzie,Thierry Jo Molina,Thierry Jo Molina,Bénédicte Neven,Bénédicte Neven,Bénédicte Neven,Luis Seabra,Caroline Thumerelle,Marie Wislez,Marie Wislez,Nadia Nathan,Nadia Nathan,Nicolas Manel,Yanick J. Crow,Marie-Louise Frémond +44 more
TL;DR: Heterozygous missense mutations in COPA underlie constitutive interferon signaling through STING, thereby defining a novel type I interfer onopathy and emphasizing the importance of the ER–Golgi axis in interferons homeostasis.
Journal ArticleDOI
Self-Awareness: Nucleic Acid-Driven Inflammation and the Type I Interferonopathies.
TL;DR: It is suggested that the group of Mendelian inborn errors of immunity referred to as the type I interferonopathies relate to a breakdown of self/nonself discrimination, with the associated mutant genotypes involving molecules playing direct or indirect roles in nucleic acid signaling.