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

Get full text

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

Get full text

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

Get full text

The Recruitment-Secretory Block (“R-SB”) Phenomenon and Endoplasmic Reticulum Storage Diseases by Francesco Callea, Paolo Tomà, Emanuele Bellacchio

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text

The KLB rs17618244 gene variant is associated with fibrosing MAFLD by promoting hepatic stellate cell activation by Nadia Panera, Marica Meroni, Miriam Longo, Annalisa Crudele, Luca Valenti, Emanuele Bellacchio, Luca Miele, Valentina D'Oria, Erika Paolini, Marco Maggioni, Anna Ludovica Fracanzani, Anna Alisi, Paola Dongiovanni

Get full text

Novel <em>KCND3</em> Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt K_V4.3 Protein Expression and K+ Currents with Variable Effects on Channel Pr... by Ginevra Zanni, Cheng-Tsung Hsiao, Ssu-Ju Fu, Chih-Yung Tang, Alessandro Capuano, Luca Bosco, Federica Graziola, Emanuele Bellacchio, Serenella Servidei, Guido Primiano, Bing-Wen Soong, Chung-Jiuan Jeng

Get full text

P360: Phenotypic and molecular characterization of a cohort of patients with primary CoQ10 deficiency caused by pathogenic variants in COQ7 by Parith Wongkittichote, Laura Duque Lasio, Martina Magistrati, Sheel Pathak, Brooke Sample, Daniel Carvalho, Adrianna Banzzatto Ortega, Claudio de Gusmao, Matheus Castro, Tomi Toler, Emanuele Bellacchio, Cristina Dallabona, Marwan Shinawi

Get full text

Homozygous <i>HESX1</i> and <i>COL1A1</i> Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis by Viola Alesi, Maria Lisa Dentici, Silvia Genovese, Sara Loddo, Emanuele Bellacchio, Valeria Orlando, Silvia Di Tommaso, Giorgia Catino, Chiara Calacci, Giusy Calvieri, Daniele Pompili, Graziamaria Ubertini, Bruno Dallapiccola, Rossella Capolino, Antonio Novelli

Get full text

Expanding the clinical phenotype of IARS2-related mitochondrial disease by Barbara Vona, Reza Maroofian, Emanuele Bellacchio, Maryam Najafi, Kyle Thompson, Ahmad Alahmad, Langping He, Najmeh Ahangari, Abolfazl Rad, Sima Shahrokhzadeh, Paulina Bahena, Falk Mittag, Frank Traub, Jebrail Movaffagh, Nafise Amiri, Mohammad Doosti, Reza Boostani, Ebrahim Shirzadeh, Thomas Haaf, Daria Diodato, Miriam Schmidts, Robert W. Taylor, Ehsan Ghayoor Karimiani

Get full text