Intramolecular Interaction with the E6 Region Stabilizes the Closed Conformation of the N-SH2 Domain and Concurs with the Self-Inhibitory Docking in Downregulating the Activity of...

by Emanuele Bellacchio
Published 2022-04-01

Exploring the Mechanism of Activation of CFTR by Curcuminoids: An Ensemble Docking Study

by Emanuele Bellacchio
Published 2023-12-01

Mutations Causing Mild or No Structural Damage in Interfaces of Multimerization of the Fibrinogen γ-Module More Likely Confer Negative Dominant Behaviors

by Emanuele Bellacchio
Published 2020-11-01

The Recruitment-Secretory Block (“R-SB”) Phenomenon and Endoplasmic Reticulum Storage Diseases

by Francesco Callea, Paolo Tomà, Emanuele Bellacchio
Published 2021-06-01

A Novel Homozygous Mutation of the AIRE Gene in an APECED Patient From Pakistan: Case Report and Review of the Literature

by Marsha Pellegrino, Emanuele Bellacchio, Rudina Dhamo, Federica Frasca, Corrado Betterle, Alessandra Fierabracci
Published 2018-08-01

Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center.

by Isabella Giovannoni, Francesco Callea, Emanuele Bellacchio, Giuliano Torre, Jean De Ville De Goyet, Paola Francalanci
Published 2015-01-01

Pathomorphogenesis of Glycogen-Ground Glass Hepatocytic Inclusions (Polyglucosan Bodies) in Children after Liver Transplantation

by Francesco Callea, Paola Francalanci, Chiara Grimaldi, Francesca Diomedi Camassei, Rita Devito, Fabio Facchetti, Rita Alaggio, Emanuele Bellacchio
Published 2022-09-01

Analysis of the <i>AIRE</i> Gene Promoter in Patients Affected by Autoimmune Polyendocrine Syndromes

by Annamaria Cudini, Caterina Nardella, Emanuele Bellacchio, Alessia Palma, Domenico Vittorio Delfino, Corrado Betterle, Marco Cappa, Alessandra Fierabracci
Published 2024-02-01

Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Minimal Syndactyly Due to a Novel Mutation in NECTIN4: A Case Report and Literature Review

by Roberta Rotunno, Andrea Diociaiuti, Maria Lisa Dentici, Martina Rinelli, Michele Callea, Chiara Retrosi, Giovanna Zambruno, Emanuele Bellacchio, May El Hachem
Published 2021-05-01

Novel loss of function mutation in TUBA1A gene compromises tubulin stability and proteostasis causing spastic paraplegia and ataxia

by Riccardo Zocchi, Emanuele Bellacchio, Michela Piccione, Raffaella Scardigli, Raffaella Scardigli, Valentina D’Oria, Stefania Petrini, Kristin Baranano, Enrico Bertini, Antonella Sferra
Published 2023-06-01

Structural Characteristics in the γ Chain Variants Associated with Fibrinogen Storage Disease Suggest the Underlying Pathogenic Mechanism

by Guven Burcu, Emanuele Bellacchio, Elif Sag, Alper Han Cebi, Ismail Saygin, Aysenur Bahadir, Guldal Yilmaz, Marialuisa Corbeddu, Murat Cakir, Francesco Callea
Published 2020-07-01

Very mild isolated intellectual disability caused by adenylosuccinate lyase deficiency: a new phenotype

by Marina Macchiaiolo, Paola Sabrina Buonuomo, Gerarda Mastrogiorgio, Matteo Bordi, Beatrice Testa, Gerrit Weber, Emanuele Bellacchio, Marco Tartaglia, Francesco Cecconi, Andrea Bartuli
Published 2020-06-01

TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics

by Antonella Sferra, Stefania Petrini, Emanuele Bellacchio, Francesco Nicita, Francesco Scibelli, Maria Lisa Dentici, Paolo Alfieri, Gianluca Cestra, Enrico Silvio Bertini, Ginevra Zanni
Published 2020-02-01

A Novel Splicing Variant of <i>COL2A1</i> in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions

by Valentina Bruni, Cristina Barbara Spoleti, Andrea La Barbera, Vincenzo Dattilo, Emma Colao, Carmela Votino, Emanuele Bellacchio, Nicola Perrotti, Sabrina Giglio, Rodolfo Iuliano
Published 2021-09-01

Targeting proliferating cell nuclear antigen and its protein interactions induces apoptosis in multiple myeloma cells.

by Rebekka Müller, Kristine Misund, Toril Holien, Siri Bachke, Karin M Gilljam, Thea K Våtsveen, Torstein B Rø, Emanuele Bellacchio, Anders Sundan, Marit Otterlei
Published 2013-01-01

Mineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency

by Francesco Callea, Isabella Giovannoni, Paola Francalanci, Renata Boldrini, Gavino Faa, Daniela Medicina, Valerio Nobili, Valeer J. Desmet, Kamal Ishak, Kuniaki Seyama, Emanuele Bellacchio
Published 2018-05-01

Human papillomavirus-16 E7 interacts with glutathione S-transferase P1 and enhances its role in cell survival.

by Anna M Mileo, Claudia Abbruzzese, Stefano Mattarocci, Emanuele Bellacchio, Paola Pisano, Antonio Federico, Vittoria Maresca, Mauro Picardo, Alessandra Giorgi, Bruno Maras, M Eugenia Schininà, Marco G Paggi
Published 2009-10-01

Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency

by Gerarda Mastrogiorgio, Marina Macchiaiolo, Paola Sabrina Buonuomo, Emanuele Bellacchio, Matteo Bordi, Davide Vecchio, Kari Payne Brown, Natalie Karen Watson, Benedetta Contardi, Francesco Cecconi, Marco Tartaglia, Andrea Bartuli
Published 2021-03-01

Fibrinogen Gamma Chain Mutations Provoke Fibrinogen and Apolipoprotein B Plasma Deficiency and Liver Storage

by Francesco Callea, Isabella Giovannoni, Sinan Sari, Esendagli Guldal, Buket Dalgic, Gulen Akyol, Tsuyoshi Sogo, Abdulrahman Al-Hussaini, Giuseppe Maggiore, Andrea Bartuli, Renata Boldrini, Paola Francalanci, Emanuele Bellacchio
Published 2017-12-01

A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing

by Marina Macchiaiolo, Sabina Barresi, Francesco Cecconi, Ginevra Zanni, Marcello Niceta, Emanuele Bellacchio, Giacomo Lazzarino, Angela Maria Amorini, Enrico Silvio Bertini, Salvatore Rizza, Benedetta Contardi, Marco Tartaglia, Andrea Bartuli
Published 2017-08-01