Results 61 to 70 of about 5,768 (191)
Movement Disorders Clinical Practice, EarlyView.Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño +6 more
wiley +1 more source
Ubiquitin and ubiquitin‐like modifications in the endoplasmic reticulum stress response
The FEBS Journal, EarlyView.Endoplasmic reticulum (ER) stress activates various proteostasis control processes, including the unfolded protein response, ribosome‐associated quality control, and ER‐associated degradation. Ubiquitin and ubiquitin‐like modifications dynamically regulate these processes to determine cell fate, promoting adaptation or inducing cell death.
Tony Avril +2 more
wiley +1 more source
Nature Communications, 2021 UBE3A gene dysregulation is associated with neurodevelopmental disorders, but predicting the function of UBE3A variants remains difficult. The authors use a high-throughput assay to categorize variants by functional activity, and show that UBE3A ...
Kellan P. Weston +12 more
doaj +1 more source
Table_3_Detailed Dissection of UBE3A-Mediated DDI1 Ubiquitination.xlsx
, 2019 The ubiquitin E3 ligase UBE3A has been widely reported to interact with the proteasome, but it is still unclear how this enzyme regulates by ubiquitination the different proteasomal subunits.
Ugo Mayor (404331) +8 more
core +1 more source
Use of Wearable Sensors in Angelman Syndrome: A Systematic Review
Journal of Intellectual Disability Research, EarlyView.ABSTRACT Background Wearable sensors are a promising method for collecting clinical trial outcome data for people with Angelman syndrome (AS). However, there has yet to be a systematic probe into the ways in which wearable sensors have been successfully used in AS. The current study aims to provide a quantitative summary of wearable sensors used in AS,
Veronika Vozka +11 more
wiley +1 more source
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
Data_Sheet_1_Detailed Dissection of UBE3A-Mediated DDI1 Ubiquitination.docx
, 2019 The ubiquitin E3 ligase UBE3A has been widely reported to interact with the proteasome, but it is still unclear how this enzyme regulates by ubiquitination the different proteasomal subunits.
Ugo Mayor (404331) +8 more
core +1 more source
Meta‐analysis fails to show any correlation between protein abundance and ubiquitination changes
FEBS Open Bio, Volume 16, Issue 6, Page 1074-1086, June 2026.We analyzed over 50 published proteomics datasets to explore the relationship between protein levels and ubiquitination changes across multiple experimental conditions and biological systems. Although ubiquitination is often associated with protein degradation, our analysis shows that changes in ubiquitination do not globally correlate with changes in ...
Nerea Osinalde +3 more
wiley +1 more source
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 +10 more
doaj +1 more source
Epilepsia Open, Volume 11, Issue 3, Page 1046-1053, June 2026.Abstract This multicenter retrospective study evaluated the effectiveness and safety of highly purified cannabidiol (CBD) in 22 patients with 15q11.2‐q13.1 duplication or deletion syndromes (15q‐DDS), including 12 with 15q duplication syndrome (dup15q) and 10 with Angelman syndrome (AS). Median (interquartile range [IQR]) age at CBD initiation was 14.5
Emanuele Cerulli Irelli +14 more
wiley +1 more source