EpiPM Consortium - The Lancet Neurology, 2015 - Elsevier
Technological advances have paved the way for accelerated genomic discovery and are bringing precision medicine clearly into view. Epilepsy research in particular is well suited to …
S Balestrini, SM Sisodiya - Neuroscience letters, 2018 - Elsevier
There is high variability in the response to antiepileptic treatment across people with epilepsy. Genetic factors significantly contribute to such variability. Recent advances in the …
AF Kluge, BR Lagu, P Maiti, M Jaleel, M Webb… - Bioorganic & medicinal …, 2018 - Elsevier
Mitophagy is one of the processes that cells use to maintain overall health. An E3 ligase, parkin, ubiquitinates mitochondrial proteins prior to their degradation by autophagasomes …
X Li, N Song, L Liu, X Liu, X Ding, X Song… - Nature …, 2017 - nature.com
Defective centrosome duplication is implicated in microcephaly and primordial dwarfism as well as various ciliopathies and cancers. Yet, how the centrosome biogenesis is regulated …
F Wang, Y Gao, L Zhou, J Chen, Z Xie, Z Ye… - Frontiers in …, 2022 - frontiersin.org
Ubiquitin-specific protease 30 (USP30) is a deubiquitinating enzyme (DUB) belonging to the USP subfamily, which was found localized in the mitochondrial outer membrane and …
MRF Reijnders, V Zachariadis, B Latour, L Jolly… - The American Journal of …, 2016 - cell.com
Mutations in more than a hundred genes have been reported to cause X-linked recessive intellectual disability (ID) mainly in males. In contrast, the number of identified X-linked …
Most proteins undergo posttranslational modification such as acetylation, methylation, phosphorylation, biotinylation, and ubiquitination to regulate various cellular processes …
AW Buckley, GL Holmes - Cold Spring …, 2016 - perspectivesinmedicine.cshlp.org
Epilepsy and autistic spectrum disorder frequently coexist in the same individual. Electroencephalogram (EEG) epileptiform activity is also present at a substantially higher …
T Ma, W Chen, X Zhi, H Liu, Y Zhou, BW Chen, L Hu… - Cancer letters, 2018 - Elsevier
Gemcitabine is the cornerstone of pancreatic cancer treatment. Although effective in most patients, development of tumor resistance to gemcitabine can critically limit its efficacy. The …