Associated Papers
Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders.
Geysens M et al.
Genome Medicine, 2025
A novel UBE2A splice site variant causing intellectual disability type Nascimento.
Yan S et al.
Clinical Case Reports, 2022
A novel missense mutation in the UBE2A gene causes intellectual disability in the large X-linked family.
Arslan Satılmış SB et al.
The Journal of Gene Medicine, 2021
A novel UBE2A mutation in a Chinese family with X-linked intellectual disability.
Jia W et al.
The Journal of Gene Medicine, 2020
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.
Cordeddu V et al.
Clinical Genetics, 2020
A novel splice site mutation in the UBE2A gene leads to aberrant mRNA splicing in a Chinese patient with X-linked intellectual disability type Nascimento.
Ma D et al.
Molecular Genetics & Genomic Medicine, 2019
Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability.
de Oliveira JF et al.
Nature Chemical Biology, 2019
KCMF1 (potassium channel modulatory factor 1) Links RAD6 to UBR4 (ubiquitin N-recognin domain-containing E3 ligase 4) and lysosome-mediated degradation.
Hong JH et al.
Molecular & Cellular Proteomics : Mcp, 2015
X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.
Czeschik JC et al.
Orphanet Journal of Rare Diseases, 2013
Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy.
Haddad DM et al.
Molecular Cell, 2013
Select a paper to view details