Results 51 to 60 of about 5,768 (191)
Frontiers in NeuroanatomyAngelman syndrome (AS) is a neurogenetic disorder caused by mutations or deletions in the maternally-inherited UBE3A allele, leading to a loss of UBE3A protein expression in neurons.
Chavely Gonzalez Ramirez +24 more
doaj +1 more source
Imprinting analysis by droplet digital PCR coupled with locked nucleic acid TaqMan probes
Epigenetics, 2021 Imprinted genes are differentially expressed in a parent-of-origin-specific manner. Parental origin of the alleles is discriminated by intragenic DNA polymorphisms. Comparisons of parental allelic expression have been analysed by semiquantitative RT-PCR.
Maiko Mitake +2 more
doaj +1 more source
Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes
Epilepsia Open, EarlyView.Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola +3 more
wiley +1 more source
Precision therapies for genetic epilepsies in 2025: Promises and pitfalls
Epilepsia Open, EarlyView.Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang +3 more
wiley +1 more source
Genetic landscape of patients with atypical absence status epilepticus: A systematic review
Epilepsia Open, EarlyView.Abstract Atypical absence status epilepticus (AASE) is a rare subtype of nonconvulsive status epilepticus (NCSE), characterized by clouding of consciousness and continuous or fluctuating epileptiform activity, generally at a frequency below 3 Hz. Only sparse literature exists on the genetic conditions associated with it.
Maria Cristina Cioclu +2 more
wiley +1 more source
Ubiquitination of Substrates by E6Ap/UBE3A Ligase [PDF]
Biophysical Journal, 2017 Only a narrow range of E6AP ubiquitin ligase activity is allowed for normal neural development. Enzyme activation by Ube3A gene duplication is linked with familial autism spectrum disorder while loss of function results in the Angelman syndrome neurological disorder.
Virginia Ronchi, Arthur Haas
openaire +1 more source
BMC Genetics, 2011 Background Angelman syndrome (AS) is a neurogenetic disorder characterized by severe developmental delay with mental retardation, a generally happy disposition, ataxia and characteristic behaviors such as inappropriate laughter, social-seeking behavior ...
Reiter Lawrence T +3 more
doaj +1 more source
Ubiquitin-protein ligase E3A (UBE3A) mediation of viral infection and human diseases
Virus Research, 2023 The Ubiquitin-protein ligase E3A, UBE3A, also known as E6-associated protein (E6-AP), is known to play an essential role in regulating the degradation of various proteins by transferring Ub from E2 Ub conjugating enzymes to the substrate proteins ...
Pankaj Chaudhary +2 more
doaj +1 more source
Transcriptional collision hypothesis of Ube3a imprinting.
, 2013 Paternal Ube3a was found to be transcribed at a similar level as maternal Ube3a at the 5′ portion of the gene. The levels of both paternal Ube3a sense and antisense transcripts were found to be decreased around intron 4 of Ube3a.
Ping Jun Zhu (502325) +5 more
core +1 more source
Understanding the Imprinting Mechanism of UBE3A for Therapeutic Intervention [PDF]
, 2020 Human chromosome 15q11-q13 contains a cluster of imprinted genes that are associated with a number of neurological disorders that exhibit non-Mendelian patterns of inheritance, such as Angelman syndrome (AS) and Prader-Willi syndrome.
Benjamin, Jade Marie
core