The DUB club: Deubiquitinating enzymes and neurodevelopmental disorders
Protein ubiquitination is a widespread, multifunctional, posttranslational protein modification,
best known for its ability to direct protein degradation via the ubiquitin proteasome system …
best known for its ability to direct protein degradation via the ubiquitin proteasome system …
Two genetic mechanisms in two siblings with intellectual disability, autism spectrum disorder, and psychosis
YS Huang, TH Fang, B Kung, CH Chen - Journal of Personalized …, 2022 - mdpi.com
Intellectual disability (ID) and autism spectrum disorder (ASD) are complex
neurodevelopmental disorders with high heritability. To search for the genetic deficits in two …
neurodevelopmental disorders with high heritability. To search for the genetic deficits in two …
[HTML][HTML] Identification of substrates for human deubiquitinating enzymes (DUBs): An up-to-date review and a case study for neurodevelopmental disorders
N Elu, N Osinalde, J Ramirez, N Presa… - Seminars in Cell & …, 2022 - Elsevier
Similar to the reversal of kinase-mediated protein phosphorylation by phosphatases,
deubiquitinating enzymes (DUBs) oppose the action of E3 ubiquitin ligases and reverse the …
deubiquitinating enzymes (DUBs) oppose the action of E3 ubiquitin ligases and reverse the …
Routine diagnostics confirm novel neurodevelopmental disorders
RT Jauss, S Schließke, R Abou Jamra - Genes, 2022 - mdpi.com
Routine diagnostics is biased towards genes and variants with satisfactory evidence, but
rare disorders with only little confirmation of their pathogenicity might be missed. Many of …
rare disorders with only little confirmation of their pathogenicity might be missed. Many of …
Clinical and genetic association studies reveal within-individual variability as an integral part of Huntington disease
NA Aziz - medRxiv, 2024 - medrxiv.org
Huntington disease (HD) is one of the most common repeat expansion disorders. Clinically,
HD patients exhibit considerable visit-to-visit variability in symptoms and signs independent …
HD patients exhibit considerable visit-to-visit variability in symptoms and signs independent …
Microdeletions at 19p13. 11p12 in five individuals with neurodevelopmental delay
M Rieger, S Moutton, S Verheyen, K Steindl… - European Journal of …, 2023 - Elsevier
Only few copy number variants at chromosome 19p13. 11 have been reported, thus
associated clinical information is scarce. Proximal to these copy number losses, we now …
associated clinical information is scarce. Proximal to these copy number losses, we now …
Identification of substrates for human deubiquitinating enzymes (DUBs): An up-to-date review and a case study for neurodevelopmental disorders
N Elu Arantzamendi, N Osinalde Moraleja… - 2022 - addi.ehu.es
Similar to the reversal of kinase-mediated protein phosphorylation by phosphatases,
deubiquitinating enzymes (DUBs) oppose the action of E3 ubiquitin ligases and reverse the …
deubiquitinating enzymes (DUBs) oppose the action of E3 ubiquitin ligases and reverse the …