Article

Localization of Human UBE3A Isoform 3 is Highly Sensitive to Amino Acid Substitutions at p.Met21 Position

2024-02-07

Abstract excerpt

UBE3A encodes three isoforms of Ubiquitin E3 ligase A, which differ in their N-terminal sequence, abundance, and localization. Recently, three individuals diagnosed with Angelman Syndrome have been described who carry a variant that abrogates the start codon of the predominant nuclear isoform 1 (hUBE3A-Iso1 p.Met1Thr ) and concomitantly results in a missense variant in isoform 3 (hUBE3A-Iso1 p.Met21Thr ), which...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 3a9e781e-cc24-5bf0-bf66-29843e8413a8
DOI: 10.1101/2024.02.05.578859

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Localization of Human UBE3A Isoform 3 is Highly Sensitive to Amino Acid Substitutions at p.Met21 PositionDOI 10.1101/2024.02.05.578859Read

SUBCELLULAR FUNCTIONS OF <i>UBE3A</i> ISOFORMS DRIVE SYNAPTIC DYSFUNCTION IN ANGELMAN SYNDROMESemantic proximity Read

UBE3A isoform-selective and non-selective contributions to Angelman syndrome phenotypes.Semantic proximity Read

Abundance and localization of human UBE3A protein isoformsSemantic proximity Read

Abundance and localization of human UBE3A protein isoforms.Semantic proximity Read

Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis.Semantic proximity Read

Tissue-specific variation of Ube3a protein expression in rodents and in a mouse model of Angelman syndromeSemantic proximity Read

Histone Variant H3.3 Mutations in Defining the Chromatin Function in Mammals.Semantic proximity Read

Paralogue-Specific Roles of SUMO1 and SUMO2/3 in Protein Quality Control and Associated DiseasesSemantic proximity Read

Angelman Syndrome causing UBE3A ligase displays predominantly synaptic ubiquitination activity in the mouse brainSemantic proximity Read

Moyamoya Disease-Associated <i>RNF213</i> Alleles Encode Dominant Negative Alleles That Globally Impair UbiquitylationSemantic proximity Read

Characterization of amino acid residues within the N-terminal region of Ubc9 that play a role in Ubc9 nuclear localization.Semantic proximity Read

Regulation of neuronal mRNA splicing and Tau isoform ratio by ATXN3 through deubiquitylation of splicing factorsSemantic proximity Read