Associated Papers
Expanding the phenotype of UPF3B-related disorder: Case reports and literature review.
Romano F et al.
American Journal of Medical Genetics. Part A, 2024
Human UPF3A and UPF3B enable fault-tolerant activation of nonsense-mediated mRNA decay.
Wallmeroth D et al.
The Embo Journal, 2022
35451084 (PubMed )
Supplement: EMBJ-41-e109191-s002.pdf
A synonymous UPF3B variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networks.
Domingo D et al.
Human Molecular Genetics, 2020
Full UPF3B function is critical for neuronal differentiation of neural stem cells.
Alrahbeni T et al.
Molecular Brain, 2015
Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism.
Laumonnier F et al.
Molecular Psychiatry, 2010
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.
Tarpey PS et al.
Nature Genetics, 2007
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