Ubiquitin protein ligase E3A attaches a small marker protein called ubiquitin to proteins that should be degraded. Cellular structures called proteasomes recognize and digest proteins …

The UBE3A gene provides instructions for making a protein called ubiquitin protein ligase E3A. Ubiquitin protein ligases are enzymes that target other proteins to be broken down (degraded) …

2024年12月25日 · UBE3A (Ubiquitin Protein Ligase E3A) is a Protein Coding gene. Diseases associated with UBE3A include Angelman Syndrome and Rett Syndrome. Among its related …

2022年4月7日 · Angelman syndrome is a rare and complex neurodevelopmental condition that causes developmental delays, intellectual disabilities, speech impairments and movement …

2024年7月8日 · Deletion of the maternal UBE3A allele causes Angelman syndrome (AS); because paternal UBE3A is epigenetically silenced by a long non-coding antisense (UBE3A …

2024年12月13日 · In particular, Angelman syndrome and one of the most common genomic forms of autism, dup15q, are caused respectively by lack of or excess of UBE3A, a ubiquitin E3 …

Here, we will first review what is known about UBE3A function and regulation, discuss the complex epigenetic mechanisms regulating UBE3A in neurons, and discuss the phenotypes …

UBE3A is an E3 ubiquitin ligase that targets proteins for proteasomal degradation. The UBE3A gene resides within the human 15q11.2-q13.3 locus that is parentally imprinted in neurons …

2025年3月4日 · Title: Ubiquitin-protein ligase E3A (UBE3A) mediation of viral infection and human diseases. The role of UBE3A in the autism and epilepsy-related Dup15q syndrome using …

2012年8月23日 · Clinical resource with information about UBE3A, Angelman syndrome, Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure …