Results 71 to 80 of about 5,768 (191)
Epilepsia Open, Volume 11, Issue 3, Page 740-751, June 2026.Abstract This review examines how recent genetic and technological advances have transformed our understanding and treatment of genetic epilepsies (GEs), with a focus on disorders involving GABAA receptors (GABRs) and the GABA transporter 1 (GAT‐1) encoded by SLC6A1.
Juexin Wang, Jing‐Qiong Kang
wiley +1 more source
Organoids: From Bench to Bedside Applications
MedComm, Volume 7, Issue 6, June 2026.Organoids, as a groundbreaking biomedical research platform, utilize adult stem cells (ASCs), embryonic stem cells (ESCs), and induced pluripotent stem cells (iPSCs) as sources. By integrating specific growth and differentiation signals within an extracellular matrix (e.g., Matrigel), organoids guide cells to self‐assemble into three‐dimensional ...
Kelin Li +6 more
wiley +1 more source
Analysis of Human Uniparental Embryonic Stem Cells Reveals New Putative Imprinted Loci
Cell Proliferation, Volume 59, Issue 6, June 2026.To identify novel imprinted genes, parthenogenetic, androgenetic and biparental human embryonic stem cells and their differentiated neural progenitors were analysed by methylome and transcriptome profiling. This approach uncovered 12 putative novel imprinted genes, including a clustered region on chromosome 19, expanding the current catalogue of ...
Shay Kinreich, Nissim Benvenisty
wiley +1 more source
The Drosophila melanogaster homolog of UBE3A is not imprinted in neurons [PDF]
Epigenetics, 2016 In mammals, expression of UBE3A is epigenetically regulated in neurons and expression is restricted to the maternal copy of UBE3A. A recent report claimed that Drosophila melanogaster UBE3A homolog (Dube3a) is preferentially expressed from the maternal allele in fly brain, inferring an imprinting mechanism.
Hope, Kevin A. +2 more
openaire +2 more sources
The 3‐Hit Metabolic Signaling Model for Autism Spectrum Disorder: A Summary
Autism Research, Volume 19, Issue 5, May 2026.ABSTRACT Autism spectrum disorder (ASD) is a highly heritable yet environmentally sensitive neurodevelopmental condition whose biological heterogeneity has resisted a unifying causal explanation for over 100 years. The 3‐hit metabolic signaling model proposes that ASD arises from abnormal persistence of an evolutionarily conserved stress‐response ...
Robert K. Naviaux
wiley +1 more source
Analysis of Genomic Imprinting of UBE3A in Neurons [PDF]
, 2015 Angelman syndrome (AS), chromosome 15q11-q13 duplication syndrome (Dup15q), and Prader-Willi syndrome (PWS) are neurodevelopmental disorders associated with dysregulated expression of imprinted genes located within the human 15q11-13 imprinted region ...
Hillman, Paul Randolph
core
Ube3a Imprinting Impairs Circadian Robustness in Angelman Syndrome Models
, 2015 SummaryBackgroundThe paternal allele of Ube3a is silenced by imprinting in neurons, and Angelman syndrome (AS) is a disorder arising from a deletion or mutation of the maternal Ube3a allele, which thereby eliminates Ube3a neuronal expression.
Bichell, Terry Jo +3 more
core +1 more source
The E3 Ubiquitin Ligase UBE3B Regulates Synaptic Development and Cortical Network Activity
Autism Research, Volume 19, Issue 5, May 2026.ABSTRACT Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impaired communication, abnormal social interactions, and restricted, repetitive behaviors. Pathogenic mutations in UBE3B result in neurodevelopmental disease, including intellectual disability, lack of speech, and ASD.
Shayal Vashisth +7 more
wiley +1 more source
RNAi-Induced Expression of Paternal UBE3A [PDF]
Genes (Basel)Background/Objectives: Angelman syndrome is a neurodevelopmental disorder resulting from a deficiency of the maternally inherited UBE3A gene. In mature neurons, UBE3A expression is restricted to the maternal allele due to tissue-specific genomic imprinting, while the paternal allele is silenced in cis by the UBE3A antisense transcript (UBE3A-ATS).
Kang H +4 more
europepmc +2 more sources
SMURF1 Regulates CTCF‐HOXA10 Axis and Promotes Tumor Progression in Nasopharyngeal Carcinoma
Cancer Science, Volume 117, Issue 5, Page 1346-1361, May 2026.Our study showed that SMURF1 was significantly upregulated in nasopharyngeal carcinoma (NPC) and promoted tumor progression and SMURF1 promoted K48‐linked ubiquitination degradation of CTCF. ABSTRACT The aberrant upregulation of Homeobox A10 (HOXA10) has been implicated in the progression of nasopharyngeal carcinoma (NPC), but the mechanisms driving ...
Ying Jin +5 more
wiley +1 more source