研究人员针对 UBE3A 功能获得性突变的表型机制问题，研究 Ube3a Q606E 小鼠模型，发现其有类似天使综合征表型，为相关研究提供依据。 在生命科学的神秘领域中，基因与疾病的关系一直是科研人员探索的重点。UBE3A 基因编码一种 HECT 结构域 E3 泛素连接酶（E3 ...

Ionis and Ultragenyx are competing to develop oligonucleotide treatments for Angelman syndrome, but will Neuren’s peptide ...

Dup15q is associated with genomic copy number variations that result in increased levels of the UBE3A gene product. Dup15q syndrome is clinically related to Angelman syndrome (AS), a distinct ...

Angelman syndrome is caused by a large deletion of the region of the maternal chromosome that contains UBE3A, or by a DNA sequence change (mutation) in the UBE3A gene inherited from the mother.

The disorder principally affects the central nervous system, meaning the brain and spinal cord, and it's caused by mutations ...

According to experts, it is caused by a loss of function in the UBE3A gene - usually only active from the mother. When the maternal copy of the gene is missing or damaged, the brain is not able to ...