E
Emanuele Agolini
Researcher at Boston Children's Hospital
Publications - 113
Citations - 1383
Emanuele Agolini is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 12, co-authored 81 publications receiving 749 citations. Previous affiliations of Emanuele Agolini include Sapienza University of Rome & Casa Sollievo della Sofferenza.
Papers
More filters
Journal ArticleDOI
Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia
Asli Sirmaci,Michail Spiliopoulos,Francesco Brancati,Francesco Brancati,Francesco Brancati,Eric Powell,Duygu Duman,Alexander J. Abrams,Guney Bademci,Emanuele Agolini,Shengru Guo,Berrin Konuk,Aslı Kavaz,Susan H. Blanton,M. C. Digilio,Bruno Dallapiccola,Juan Young,Stephan Züchner,Mustafa Tekin,Mustafa Tekin +19 more
TL;DR: It is demonstrated that ANKRD11 localizes mainly to the nuclei of neurons and accumulates in discrete inclusions when neurons are depolarized, suggesting that it plays a role in neural plasticity.
Journal ArticleDOI
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.
Valentina Pinna,Valentina Lanari,Paola Daniele,Federica Consoli,Emanuele Agolini,Katia Margiotti,Irene Bottillo,Isabella Torrente,Alessandro Bruselles,Caterina Fusilli,Anna Ficcadenti,Sara Bargiacchi,Eva Trevisson,Monica Forzan,Sandra Giustini,Chiara Leoni,Giuseppe Zampino,Maria Cristina Digilio,Bruno Dallapiccola,Maurizio Clementi,Marco Tartaglia,Alessandro De Luca +21 more
TL;DR: Analysis of 786 NF1 mutation-positive subjects with clinical diagnosis of neurofibromatosis type 1 allowed to identify the heterozygous c.5425C>T missense variant in six unrelated probands, all exhibiting a mild form of disease.
Journal ArticleDOI
Mutations in PVRL4, Encoding Cell Adhesion Molecule Nectin-4, Cause Ectodermal Dysplasia-Syndactyly Syndrome
Francesco Brancati,Francesco Brancati,Paola Fortugno,Irene Bottillo,Marc Lopez,Emmanuelle Josselin,Omar Boudghene-Stambouli,Emanuele Agolini,Laura Bernardini,Emanuele Bellacchio,Miriam Iannicelli,Alfredo De Rossi,Amina Dib-Lachachi,Liborio Stuppia,Giandomenico Palka,Stefan Mundlos,Sigmar Stricker,Uwe Kornak,Giovanna Zambruno,Bruno Dallapiccola +19 more
TL;DR: Together with cleft lip and/or palate ectodermal dysplasia (CLPED1, or Zlotogora-Ogur syndrome) due to an impaired function of nECTin-1, EDSS is the second known "nectinopathy" caused by mutations in a nectin adhesion molecule.
Journal ArticleDOI
COVID-19 and Genetic Variants of Protein Involved in the SARS-CoV-2 Entry into the Host Cells.
Andrea Latini,Emanuele Agolini,Antonio Novelli,Paola Borgiani,Rosalinda Giannini,Paolo Gravina,Andrea Smarrazzo,Mario Dauri,Massimo Andreoni,Paola Rogliani,Sergio Bernardini,Manuela Helmer-Citterich,Michela Biancolella,Giuseppe Novelli +13 more
TL;DR: Genetic variants in these genes could influence the entry of the SARS-CoV-2 and support the hypothesis that host genetic variability may contribute to the variability in infection susceptibility and severity.
Journal ArticleDOI
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function
Monica Zilmer,Andrew C. Edmondson,Andrew C. Edmondson,Sumeet A. Khetarpal,Viola Alesi,Maha S. Zaki,Kevin Rostasy,Camilla Gøbel Madsen,Francesca Romana Lepri,Lorenzo Sinibaldi,Raffaella Cusmai,Antonio Novelli,Mahmoud Y. Issa,Christina Fenger,Rami Abou Jamra,Heiko Reutter,Silvana Briuglia,Emanuele Agolini,Lars Hansen,Ulla E. Petäjä-Repo,John Hintze,Kimiyo Raymond,Kristen Liedtke,Valentina Stanley,Damir Musaev,Joseph G. Gleeson,Cecilia Vitali,W. Timothy O'Brien,Elena Gardella,Guido Rubboli,Daniel J. Rader,Daniel J. Rader,Katrine T. Schjoldager,Rikke S. Møller +33 more
TL;DR: The multisystem nature of phenotypes in patients and rodent models of GALNT2-CDG suggest that there are multiple non-redundant protein substrates of G ALNT2 in various tissues, including brain, which are critical to normal growth and development.