Highly efficient prime editing by introducing same-sense mutations in pegRNA or stabilizing its structure

X Li, L Zhou, BQ Gao, G Li, X Wang, Y Wang… - Nature …, 2022 - nature.com
Prime editor (PE), which is developed by combining Cas9 nickase and an engineered
reverse transcriptase, can mediate all twelve types of base substitutions and small insertions …

Nonsense-mediated mRNA decay factor functions in human health and disease

L Sun, J Mailliot, C Schaffitzel - Biomedicines, 2023 - mdpi.com
Nonsense-mediated mRNA decay (NMD) is a cellular surveillance mechanism that
degrades mRNAs with a premature stop codon, avoiding the synthesis of C-terminally …

The physiological roles of the exon junction complex in development and diseases

S Asthana, H Martin, J Rupkey, S Patel, J Yoon… - Cells, 2022 - mdpi.com
The exon junction complex (EJC) becomes an increasingly important regulator of early gene
expression in the central nervous system (CNS) and other tissues. The EJC is comprised of …

Mammalian UPF3A and UPF3B can activate nonsense‐mediated mRNA decay independently of their exon junction complex binding

Z Yi, RM Arvola, S Myers, CN Dilsavor… - The EMBO …, 2022 - embopress.org
Nonsense‐mediated mRNA decay (NMD) is governed by the three conserved factors—
UPF1, UPF2, and UPF3. While all three are required for NMD in yeast, UPF3B is …

Human UPF3A and UPF3B enable fault‐tolerant activation of nonsense‐mediated mRNA decay

D Wallmeroth, JW Lackmann, S Kueckelmann… - The EMBO …, 2022 - embopress.org
The paralogous human proteins UPF3A and UPF3B are involved in recognizing mRNAs
targeted by nonsense‐mediated mRNA decay (NMD). UPF3B has been demonstrated to …

Implementing computational methods in tandem with synonymous gene recoding for therapeutic development

BC Lin, NM Kaissarian, C Kimchi-Sarfaty - Trends in Pharmacological …, 2023 - cell.com
Synonymous gene recoding, the substitution of synonymous variants into the genetic
sequence, has been used to overcome many production limitations in therapeutic …

Gene variants involved in nonsense-mediated mRNA decay suggest a role in autism spectrum disorder

AR Marques, JX Santos, H Martiniano, J Vilela… - Biomedicines, 2022 - mdpi.com
Autism Spectrum Disorder (ASD) is a heterogeneous neurodevelopmental condition with
unclear etiology. Many genes have been associated with ASD risk, but the underlying …

ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel–Van der Aa syndrome autopsy case

C D'Incal, A Van Dijck, J Ibrahim, K De Man… - Acta neuropathologica …, 2024 - Springer
Abstract Background Helsmoortel–Van der Aa syndrome is a neurodevelopmental disorder
in which patients present with autism, intellectual disability, and frequent extra-neurological …

Expanding the phenotype of UPF3B‐related disorder: Case reports and literature review

F Romano, MK Haanpää… - American Journal of …, 2024 - Wiley Online Library
UPF3B encodes the Regulator of nonsense transcripts 3B protein, a core‐member of the
nonsense‐mediated mRNA decay pathway, protecting the cells from the potentially …

Nonsense-Mediated mRNA Decay in Human Health and Diseases: Current Understanding, Regulatory Mechanisms and Future Perspectives

A Behera, GK Panigrahi, A Sahoo - Molecular Biotechnology, 2024 - Springer
Nonsense-mediated mRNA decay (NMD) is a surveillance mechanism that is conserved
across all eukaryotes ensuring the quality of transcripts by targeting messenger RNA …