Results 71 to 80 of about 9,461 (226)
The how and why of lncRNA function: An innate immune perspective. [PDF]
, 2020 Next-generation sequencing has provided a more complete picture of the composition of the human transcriptome indicating that much of the "blueprint" is a vastness of poorly understood non-protein-coding transcripts.
Carpenter, Susan +2 more
core
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
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
The ubiquitin-proteasome pathway in Huntington's disease. [PDF]
, 2008 The accumulation of mutant protein is a common feature of neurodegenerative disease. In Huntington's disease, a polyglutamine expansion in the huntingtin protein triggers neuronal toxicity.
Finkbeiner, Steven, Mitra, Siddhartha
core +2 more sources
Ube3a reinstatement mitigates epileptogenesis in Angelman syndrome model mice [PDF]
Journal of Clinical Investigation, 2018 Angelman syndrome (AS) is a neurodevelopmental disorder in which epilepsy is common (~90%) and often refractory to antiepileptics. AS is caused by mutation of the maternal allele encoding the ubiquitin protein ligase E3A (UBE3A), but it is unclear how this genetic insult confers vulnerability to seizure development and progression (i.e ...
Bin Gu +7 more
openaire +2 more sources
Impaired neurodevelopmental pathways in autism spectrum disorder: a review of signaling mechanisms and crosstalk. [PDF]
, 2019 BackgroundThe development of an autistic brain is a highly complex process as evident from the involvement of various genetic and non-genetic factors in the etiology of the autism spectrum disorder (ASD). Despite being a multifactorial neurodevelopmental
Gu, Ran +5 more
core
Targeting mGlu5 metabotropic glutamate receptors in the treatment of cognitive dysfunction in a mouse model of phenylketonuria [PDF]
, 2018 We studied group-I metabotropic glutamate (mGlu) receptors in Pah(enu2) (ENU2) mice, which mimic the genetics and neurobiology of human phenylketonuria (PKU), a metabolic disorder characterized, if untreated, by autism, and intellectual disability (ID ...
Battaglia, Giuseppe +12 more
core +2 more sources
Loss of cyclin‐dependent kinase‐like 5 results in susceptibility to audiogenic seizures in mice
Epilepsia Open, EarlyView.Abstract CDKL5 deficiency disorder (CDD) is a severe neurodevelopmental encephalopathy characterized by early‐onset, treatment‐resistant epilepsy. Mice lacking CDKL5 display several clinically relevant phenotypes, but spontaneous seizures are not consistently reported, and it is unknown if CDD model mice are susceptible to sensory stimulus‐triggered ...
Jordan Higgins +4 more
wiley +1 more source
Genomics, 2001 The imprinted UBE3A gene exhibits maternal-only expression in specific cell types in the brain, but exhibits biallelic expression in other cell types. UBE3A is located adjacent to a cluster of imprinted, paternally expressed genes that are known to be positively regulated by the Prader-Willi syndrome imprinting center (PWS-IC).
Department of Molecular Genetics and Microbiology, University of Florida College of Medicine, Box 100266, Gainesville, Florida ( host institution ) +2 more
openaire +3 more sources
BMC Endocrine Disorders, 2023 Background Polycystic ovary syndrome (PCOS) is a reproductive hormonal abnormality and a metabolic disorder, which is frequently associated with insulin resistance (IR).
Ning Ma +4 more
doaj +1 more source