Results 91 to 100 of about 9,461 (226)

Areas of research priorities in epilepsy: A position paper of the European Reference Network for Rare and Complex Epilepsies, EpiCARE

Epilepsia Open, Volume 11, Issue 1, Page 291-321, February 2026.
Abstract Objective To define and articulate research priorities in epilepsy identified by the European Reference Network for Rare and Complex Epilepsies (ERN EpiCARE), addressing key unmet needs across the spectrum of rare and complex epilepsies. Methods This position paper was developed through a structured collaborative process involving patient ...
Sébile Tchaicha, Stéphane Auvin, Sándor Beniczky, Andreas Brunklaus, Lieven Lagae, Emilio Perucca, Rainer Surges, Sophie Adler, Christoph Helmstaedter, Floor Jansen, Guido Rubboli, Philippe Ryvlin, Nicola Specchio, Eugen Trinka, Ingmar Blümcke, Valentina de Giorgis, Katarzyna Kotulska, Gaetan Lesca, Masa Malenica, Amy McTague, Rima Nabbout, Rikke Steensbjerre Møller, Sandra Silva Arrieta, Isabella Brambilla, Małgorzata Kosla, Kees Braun, J. Helen Cross, Alexis Arzimanoglou   +27 more
wiley   +1 more source

E6AP/UBE3A Ubiquitin Ligase Harbors Two E2∼ubiquitin Binding Sites [PDF]

Journal of Biological Chemistry, 2013
By exploiting (125)I-polyubiquitin chain formation as a functional readout of enzyme activity, we have quantitatively examined the mechanism of human E6AP/UBE3A for the first time. Initial rate studies identify UbcH7 as the cognate E2 carrier protein for E6AP, although related Ubc5 isoforms and the ISG15-specific UbcH8 paralog also support E6AP with ...
Virginia P, Ronchi, Jennifer M, Klein, Arthur L, Haas   +2 more
openaire   +2 more sources

Glutamate Delta 1 Receptor in Synapses, Circuits, and Disease

European Journal of Neuroscience, Volume 63, Issue 3, February 2026.
This review discusses our current understanding of the structure–function, expression and roles in neural circuits of the less studied glutamate delta 1 (GluD1) receptor. Converging data suggests many unique features of GluD1 including expression at both excitatory and inhibitory synapses and binding to D‐serine and GABA.
Diane Choi, Poojashree B. Chettiar, Yoland Smith, Shashank M. Dravid   +3 more
wiley   +1 more source

A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome

Molecular Genetics & Genomic Medicine, 2020
Background Loss of functional UBE3A, an E3 protein ubiquitin ligase, causes Angelman syndrome (AS), a neurodevelopmental disorder characterized by severe developmental delay, speech impairment, epilepsy, movement or balance disorder, and a characteristic
Amber Geerts‐Haages, Stijn N. V. Bossuyt, Inge denBesten, Hennie Bruggenwirth, Ineke van derBurgt, Helger G. Yntema, A. Mattijs Punt, Alice Brooks, Ype Elgersma, Ben Distel, Marlies Valstar   +10 more
doaj   +1 more source

Untangling the Most Probable Role for Vitamin D\u3csub\u3e3\u3c/sub\u3e in Autism [PDF]

, 2017
Recent studies indicate an important role for vitamin D3 in autism spectrum disorder (ASD), although its mechanism is not completely understood.
Godar, Dianne E., Merrill, Stephen J.
core   +1 more source

Genetic complexity in pediatric onset epilepsy‐movement disorder syndromes: Insights from a cohort of 97 subjects

Epilepsia, Volume 67, Issue 1, Page 299-314, January 2026.
Abstract Objective Conditions presenting with both epilepsy and movement disorders (EPIMDs) range from relatively benign cases to severe developmental encephalopathies. However, the full clinical and genetic spectrum still needs to be better defined.
Davide Caputo, Roberta Solazzi, Barbara Castellotti, Celeste Panteghini, Francesca Luisa Sciacca, Elisa Visani, Elena Freri, Francesca Ragona, Laura Canafoglia, Federica Zibordi, Giovanna Zorzi, Shari Gandelli, Cinzia Gellera, Silvana Franceschetti, Nardo Nardocci, Tiziana Granata   +15 more
wiley   +1 more source

Validación de la proteína PSMD4 como sustrato del enzima UBE3A y sus implicaciones en el síndrome de Angelman [PDF]

, 2017
[ES] El síndrome de Angelman es un trastorno neurológico caracterizado por retraso mental, disfunciones en el movimiento o en el equilibrio y limitaciones severas en el habla y en el lenguaje. La causa genética que resulta en el síndrome es la deleción o
García Villamor, Rocío
core  

Species‐Specific Parent‐Of‐Origin Expression of Adam23 in the Mammalian Brain

Genes to Cells, Volume 31, Issue 1, January 2026.
Species‐specific parent‐of‐origin regulation of Adam23 is associated with differences in neural progenitor behavior and neuronal morphology. In gyrencephalic species, Adam23 shows parent‐of‐origin‐biased expression, whereas biallelic expression is observed in mice.
Makiko Meguro‐Horike, Kengo Saito, Miyuki Shimazu, Yohei Shinmyo, Hiroshi Kawasaki, Shin‐ichi Horike   +5 more
wiley   +1 more source

Angelmani ja Praderi-Willi sündroom – lühiülevaade ja kliinilise fenotüübi iseärasused Eestis [PDF]

, 2007
Angelmani sündroom (AS) ja Praderi-Willi sündroom (PWS) on harva esinevad geneetilised haigused – õedsündroomid –, mille tekkepõhjuseks on muutused 15. kromosoomi regioonis 15q11-13.
Lunge, Kaidi, Muug, Külli, Napa, Aita, Talvik, Tiina, Õiglane-Šlik, Eve   +4 more
core   +2 more sources

E3 Ubiquitin Ligases: Structures, Biological Functions, Diseases, and Therapy

MedComm, Volume 6, Issue 12, December 2025.
E3 ligases function as critical regulators of cellular protein degradation, and their dysregulation is a core pathogenic mechanism in a wide array of human diseases, including cancer, cardiovascular conditions, neurodegenerative disorders, and autoimmune diseases.
Haochen Wang, Junbo Peng, Hongchan Li, Yuzhe Lan, Jing Guo, Qiang Qiu, Xuan Huang   +6 more
wiley   +1 more source