Article
Genetics & Heredity
Xiaonan Du, Ji Wang, Shuang Li, Yu Ma, Tianqi Wang, Bingbing Wu, Yuanfeng Zhou, Lifei Yu, Yi Wang
Summary: This study assessed the phenotype and genotype of Chinese children with Angelman syndrome and found that the majority of patients had maternal deletions and an expanded mutation spectrum for UBE3A variants. Patients in the deletion group had earlier diagnosis, more severe clinical phenotype, and higher rates of epilepsy with multiple seizure types and medication use.
Article
Neurosciences
Elizabeth L. Berg, Shekib A. Jami, Stela P. Petkova, Annuska Berz, Timothy A. Fenton, Jason P. Lerch, David J. Segal, John A. Gray, Jacob Ellegood, Markus Woehr, Jill L. Silverman
Summary: Angelman syndrome is a rare genetic neurodevelopmental disorder characterized by intellectual disabilities, motor deficits, impaired communication, and happy demeanor; researchers discovered excessive laughter-like ultrasonic emissions in a rat model of AS, suggesting an excitable, playful personality similar to individuals with AS. The unique phenotypes of this rat model, including aberrant social interactions and cognitive impairments, provide advantages for evaluating therapies for AS compared to available mouse models.
JOURNAL OF NEUROSCIENCE
(2021)
Article
Genetics & Heredity
Meimiao Fang, Yali Li, Jin Ren, Ronggui Hu, Xiaobo Gao, Liang Chen
Summary: The study revealed a novel role for UBE3A in regulating downstream genes of the retinoic acid signaling pathway, potentially shedding light on a drug target for Angelman syndrome.
FRONTIERS IN GENETICS
(2021)
Article
Behavioral Sciences
Andie Dodge, Jonathan Willman, Matthew Willman, Austin W. Nenninger, Nicole K. Morrill, Kristina Lamens, Hayden Greene, Edwin J. Weeber, Kevin R. Nash
Summary: Angelman syndrome is a rare genetic disorder caused by disruptions to the maternally inherited allele UBE3A. The disorder presents severe and lifelong symptoms, including intractable seizures, abnormal EEG's, ataxic gait, lack of speech, and a notably happy demeanor. Research on the neurophysiological underpinnings of UBE3A in Angelman Syndrome is ongoing to elucidate potential therapeutic targets.
Article
Cell & Tissue Engineering
Shasha Li, Qunyan Zhu, Yaoyao Cai, Qian Yang
Summary: In this study, we successfully established patient-derived iPSCs to study the pathogenesis of Angelman syndrome and explore potential treatment approaches.
STEM CELL RESEARCH
(2022)
Article
Endocrinology & Metabolism
Catarina I. I. Goncalves, Josianne N. N. Carrico, Omneya M. M. Omar, Ebtesam Abdalla, Manuel C. C. Lemos
Summary: HDR syndrome, caused by GATA3 gene mutations, is a rare autosomal dominant disorder characterized by hypoparathyroidism, deafness, and renal dysplasia. We report a case of an 11-year-old girl with HDR syndrome caused by a heterozygous mutation at the splice acceptor site of exon 5 of the GATA3 gene. Functional studies showed that this mutation led to abnormal splicing of GATA3 mRNA, resulting in the loss of a specific sequence from exon 5.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Review
Genetics & Heredity
Jessica Duis, Mark Nespeca, Jane Summers, Lynne Bird, Karen G. C. B. Bindels-de Heus, M. J. Valstar, Marie-Claire Y. de Wit, C. Navis, Maartje ten Hooven-Radstaake, Bianca M. van Iperen-Kolk, Susan Ernst, Melina Dendrinos, Terry Katz, Gloria Diaz-Medina, Akshat Katyayan, Srishti Nangia, Ronald Thibert, Daniel Glaze, Christopher Keary, Karine Pelc, Nicole Simon, Anjali Sadhwani, Helen Heussler, Anne Wheeler, Caroline Woeber, Margaret DeRamus, Amy Thomas, Emily Kertcher, Lauren DeValk, Kristen Kalemeris, Kara Arps, Carol Baym, Nicole Harris, John P. Gorham, Brenda L. Bohnsack, Reid C. Chambers, Sarah Harris, Henry G. Chambers, Katherine Okoniewski, Elizabeth R. Jalazo, Allyson Berent, Carlos A. Bacino, Charles Williams, Anne Anderson
Summary: This article proposes a consensus statement and comprehensive literature review for the management of Angelman syndrome (AS), providing a framework for standardizing care practices. This is crucial at a critical time when new disease-modifying therapies are emerging.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Chao-Wen Lin, Yi-Chun Cheng, Chang-Hao Yang, Hsien-Sung Huang
Summary: This study found that extended exposure to white or blue light can promote the expression of the Angelman syndrome-related gene UBE3A in the retina but not in the visual cortex. Additionally, it was observed that this light exposure caused changes in the chromatin structure of the Ube3a promoter, which further impacted gene expression.
JOURNAL OF NEUROCHEMISTRY
(2023)
Article
Cell & Tissue Engineering
Marwa Elamin, Aurelie Dumarchey, Christopher Stoddard, Tiwanna M. Robinson, Christopher Cowie, Dea Gorka, Stormy J. Chamberlain, Eric S. Levine
Summary: Chromosome 15q11-q13 duplication syndrome (Dup15q) is a neurodevelopmental disorder characterized by autism and epilepsy. UBE3A, an imprinted gene expressed only from the maternal allele, is believed to be a major driver of Dup15q. In this study, Dup15q neurons showed increased excitability compared to control neurons, and normalizing UBE3A levels using antisense oligonucleotides prevented this phenotype. However, UBE3A overexpression resulted in a similar profile to Dup15q neurons, suggesting the involvement of other genes in the duplicated region.
Article
Neurosciences
James J. Fink, Jeremy D. Schreiner, Judy E. Bloom, Jadin James, Dylan S. Baker, Tiwanna M. Robinson, Richard Lieberman, Leslie M. Loew, Stormy J. Chamberlain, Eric S. Levine
Summary: The study investigated electrophysiological phenotypes in induced pluripotent stem cell-derived neurons from patients with Dup15q, revealing several potential mechanisms of neuronal hyperexcitability and seizure susceptibility. These findings may offer new targets for the treatment of seizures and other associated phenotypes in Dup15q.
BIOLOGICAL PSYCHIATRY
(2021)
Article
Cell Biology
Linn Amanda Syding, Agnieszka Kubik-Zahorodna, Petr Nickl, Vendula Novosadova, Jana Kopkanova, Petr Kasparek, Jan Prochazka, Radislav Sedlacek
Summary: A novel mouse model with a complete deletion of the Ube3a gene exhibits important phenotypes characteristic of Angelman syndrome, including motor dysfunction and behavioral abnormalities.
Article
Genetics & Heredity
Xuechao Zhao, Yuting Zheng, Li Wang, Yanhong Wang, Shiyue Mei, Xiangdong Kong
Summary: A novel UBE3A gene variant was identified in a Chinese family with multigenerational intellectual disability and developmental delay, expanding the genotypic spectrum of Angelman syndrome and providing important information for genetic counseling.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)
Article
Nanoscience & Nanotechnology
R. Mezzena, C. Masciullo, S. Antonini, F. Cremisi, M. Scheffner, M. Cecchini, I Tonazzini
Summary: During neuronal development, focal adhesions play a key role in integrating external signals and promoting neuronal pathfinding and migration. The ubiquitin ligase UBE3A has a crucial function in the nervous system, and changes in its expression levels can lead to neurodevelopmental disorders. Studies using nano/micro-structured anisotropic substrates have shown deficits in contact guidance in cells with UBE3A deficiency.
Article
Behavioral Sciences
Peter A. Perrino, Stormy J. Chamberlain, Inge-Marie Eigsti, Roslyn Holly Fitch
Summary: In this study, the researchers investigated the characteristics of Angelman syndrome in a mouse model, focusing on motor deficits, social impairment, rapid auditory processing ability, and altered ultrasonic vocalizations. They found that AS mice exhibited social and motor deficits, as well as marginal enhancements in rapid auditory processing. The study also revealed a correlation between motor impairments and communication impairments in AS, indicating the potential underlying factors contributing to the disorder.
BRAIN AND BEHAVIOR
(2021)
Article
Neurosciences
Ana Moreira-de-Sa, Francisco Q. Goncalves, Joao P. Lopes, Henrique B. Silva, Angelo R. Tome, Rodrigo A. Cunha, Paula M. Canas
Summary: Research suggests that administration of A(2A) receptor antagonists can improve motor deficits in an Angelman syndrome mouse model and correct synaptic alterations in the cerebellum and striatum.
MOLECULAR NEUROBIOLOGY
(2021)
Review
Behavioral Sciences
Fabio Minicucci, Monica Ferlisi, Francesco Brigo, Oriano Mecarelli, Stefano Meletti, Umberto Aguglia, Roberto Michelucci, Massimo Mastrangelo, Nicola Specchio, Stefano Sartori, Paolo Tinuper
EPILEPSY & BEHAVIOR
(2020)
Article
Clinical Neurology
M. Gastaldi, S. Mariotto, M. P. Giannoccaro, R. Iorio, M. Zoccarato, M. Nosadini, L. Benedetti, S. Casagrande, M. Di Filippo, M. Valeriani, S. Ricci, S. Bova, C. Arbasino, M. Mauri, M. Versino, F. Vigevano, L. Papetti, M. Romoli, C. Lapucci, F. Massa, S. Sartori, L. Zuliani, A. Barilaro, P. De Gaspari, G. Spagni, A. Evoli, R. Liguori, S. Ferrari, E. Marchioni, B. Giometto, L. Massacesi, D. Franciotta
EUROPEAN JOURNAL OF NEUROLOGY
(2020)
Article
Clinical Neurology
Mariasavina Severino, Livia Pisciotta, Domenico Tortora, Benedetta Toselli, Michela Stagnaro, Ramona Cordani, Giovanni Morana, Anna Zicca, Svetlana Kotzeva, Clelia Zanaboni, Giovanni Montobbio, Andrea Rossi, Elisa De Grandis, Maria Teresa Bassi, Claudio Zucca, Edvige Veneselli, Filippo Franchini, Maria Rosaria Vavassori, Melania Giannotta, Giuseppe Gobbi, Tiziana Granata, Nardo Nardocci, Francesca Ragona, Fiorella Gurrieri, Giovanni Neri, Francesco Danilo Tiziano, Federico Vigevano, Stefano Sartori
JOURNAL OF NEUROLOGY
(2020)
Article
Clinical Neurology
Monica Margoni, Silvia Franciotta, Davide Poggiali, Alice Riccardi, Francesca Rinaldi, Margherita Nosadini, Stefano Sartori, Maria Giulia Anglani, Francesco Causin, Paola Perini, Paolo Gallo
JOURNAL OF NEUROLOGY
(2020)
Article
Clinical Neurology
Eva-Maria Wendel, Matthias Baumann, Nina Barisic, Astrid Blaschek, Eliana Coelho de Oliveira Koch, Adela Della Marina, Katharina Diepold, Annette Hackenberg, Andreas Hahn, Thekla von Kalle, Michael Karenfort, Barbara Kornek, Christian Lechner, Steffen Leiz, Andreas Merkenschlager, Margherita Nosadini, Stefano Sartori, Kathrin Schanda, Mareike Schimmel, Larissa Seemann, Victoria Tuengler, Stephan Waltz, Andreas Wegener-Panzer, Gert Wiegand, Markus Reindl, Kevin Rostasy
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2020)
Correction
Genetics & Heredity
Maria C. Aspromonte, Mariagrazia Bellini, Alessandra Gasparini, Marco Carraro, Elisa Bettella, Roberta Polli, Federica Cesca, Stefania Bigoni, Stefania Boni, Ombretta Carlet, Susanna Negrin, Isabella Mammi, Donatella Milani, Angela Peron, Stefano Sartori, Irene Toldo, Fiorenza Soli, Licia Turolla, Franco Stanzial, Francesco Benedicenti, Cristina Marino-Buslje, Silvio C. E. Tosatto, Alessandra Murgia, Emanuela Leonardi
Article
Clinical Neurology
Giulia Musso, Margherita Nosadini, Nicoletta Gallo, Stefano Sartori, Mara Seguso, Mario Plebani
NEUROLOGICAL SCIENCES
(2020)
Review
Clinical Neurology
Clarissa Tona, Margherita Nosadini, Maria F. Pelizza, Jacopo N. Pin, Laura Baggio, Clementina Boniver, Joseph D. Gabrieli, Francesco Causin, Irene Toldo, Stefano Sartori
Article
Genetics & Heredity
Emanuela Leonardi, Mariagrazia Bellini, Maria C. Aspromonte, Roberta Polli, Anna Mercante, Claudia Ciaccio, Elisa Granocchio, Elisa Bettella, Ilaria Donati, Elisa Cainelli, Stefania Boni, Stefano Sartori, Chiara Pantaleoni, Clementina Boniver, Alessandra Murgia
Article
Clinical Neurology
Thea Giacomini, Thomas Foiadelli, Pietro Annovazzi, Margherita Nosadini, Matteo Gastaldi, Diego Franciotta, Claudio Panarese, Paolo Capris, Paola Camicione, Paola Lanteri, Elisa De Grandis, Giulia Prato, Ramona Cordani, Lino Nobili, Giovanni Morana, Andrea Rossi, Angela Pistorio, Maria Cellerino, Antonio Uccelli, Stefano Sartori, Salvatore Savasta, Maria Margherita Mancardi
MULTIPLE SCLEROSIS AND RELATED DISORDERS
(2020)
Article
Clinical Neurology
Francesca Sfriso, Claudia Maria Bonardi, Francesco Viaggi, Stefano Sartori, Clementina Boniver, Francesco Martinolli, Liviana Da Dalt, Anna Chiara Frigo, Alessandro Mazza, Angela Amigoni
ACTA NEUROLOGICA SCANDINAVICA
(2020)
Article
Hematology
Renzo Manara, Alice Dalla Torre, Marta Lucchetta, Mario Ermani, Angela Favaro, Claudio Baracchini, Silvia Favaretto, Federica Viaro, Vania Munaretto, Stefano Sartori, Sara Ponticorvo, Andrea G. Russo, Alessandra Biffi, Laura Sainati, Raffaella Colombatti
Summary: Studies have shown that sickle cell disease affects the development and tuning of the visual cortex in children, leading to anatomical and functional changes even in the absence of retinopathy. This sets the basis for future research to determine if these changes can predict visual impairment in adulthood, serve as biomarkers of disease progression, or indicate treatment response.
BRITISH JOURNAL OF HAEMATOLOGY
(2021)
Letter
Pediatrics
Stefano Sartori, Leonardo Salviati, Margherita Nosadini
PEDIATRIC RESEARCH
(2021)
Article
Clinical Neurology
Margherita Nosadini, Gianluca D'Onofrio, Maria Federica Pelizza, Concetta Luisi, Davide Padrin, Laura Baggio, Giovanna Simonetta Zorzi, Irene Toldo, Stefano Sartori
Summary: This study presents a new case of pediatric ADCY5-related dyskinesia with a de novo mutation, characterized by developmental delay and hypotonia. Extensive genetic testing did not lead to a diagnosis until a heterozygous de novo mutation was identified. Symptoms improved with treatment, highlighting the importance of considering ADCY5 mutations in early-onset movement disorders with global neurological impairment.
Article
Clinical Neurology
Duccio Maria Cordelli, Chiara Marra, Lara Ciampoli, Davide Barbon, Francesco Toni, Daniele Zama, Lucio Giordano, Giuseppe Milito, Stefano Sartori, Laura Sainati, Thomas Foiadelli, Tommaso Mina, Lucia Fusco, Marta Santarone, Chiara Iurato, Alessandro Orsini, Giovanni Farello, Alberto Verrotti, Arianna Aceti, Riccardo Masetti
Summary: In patients younger than 6 years old, epileptic seizures are the most common presentation of PRES, with status epilepticus being more frequent. Patients in this age group are more likely to require admission to the ICU.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2021)