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ProteomicsTherapeutic rescue of pathogenic asparaginyl-tRNA synthetase alleles
Pathogenic alleles in the cytoplasmic asparaginyl-tRNA synthetase (NARS1) are associated with infant and juvenile onset disease, with no current disease-specific treatments. We developed a tractable human cell system to study disease-causing NARS1 alleles that can be adapted to investigate NARS1 and...
ORGANISM(S): Homo sapiens (Human) 
2026-06-19 | PXD068839 | Pride
Integrated stress response Asparaginyl-trna synthetase Nonsense alleles 
ProteomicsHuman tRNA genes enable differential nonsense suppression in live cells and a model of frontotemporal dementia
Nonsense mutations generate premature termination codons (PTCs) that are responsible for 11% of human genetic disease alleles. Thus, nonsense suppressor tRNAs have broad therapeutic potential. Humans encode > 600 tRNA genes with many identical or similar copies of each tRNA. We hypothesized that tRN...
ORGANISM(S): Homo sapiens (Human) 
2025-07-25 | PXD056053 | Pride
Therapeutics Live-cell fluorescent reporters Frontotemporal dementia Trna Nonsense suppression Progranulin Protein synthesis 
UnknownAre Nonsense Alleles of Drosophila melanogaster Genes under Any Selection?
Not available
S-EPMC5888714 | biostudies-literature
ProteomicsGene expression analysis of yeast strains with a nonsense mutation in the eRF3-coding gene highlights possible mechanisms of adaptation
In yeast Saccharomyces cerevisiae, there are two translation termination factors, eRF1 (SUP45) and eRF3 (SUP35), which are essential for viability. Previous studies have revealed that presence of nonsense mutations in these genes leads to amplification of mutant alleles (sup35-n and sup45-n) which ...
ORGANISM(S): Saccharomyces cerevisiae (Baker's yeast) 
2026-08-17 | PXD052727 | Pride
15 rna-seq Cdc28 Yeast Nonsense mutations Erf3 Cdc23 Translation termination Cell cycle Cdc20 Proteome Fkh1 Release factors 
TranscriptomicsHigh-fidelity and differential nonsense suppression in live cells and a frontotemporal dementia allele with human transfer RNAs
Nonsense mutations generate premature termination codons (PTCs) that are responsible for 11% of genetic disease alleles. The arginine (Arg, CGA) to stop (UGA) mutation is the most common PTC. Humans encode >600 tRNA genes with many identical and similar copies. We developed a dual fluorescent report...
ORGANISM(S): Homo sapiens 
2025-07-28 | GSE300389 | GEO
TranscriptomicsA novel nonsense mutation in DMP1 gene identified by a genome-wide association study is responsible for inherited rickets in Corriedale sheep
Inherited rickets of Corriedale sheep is characterized by decreased growth rate, thoracic lordosis and angular limb deformities. Previous outcross and backcross studies suggest it is a simple autosomal recessive disorder. A genome wide association study was conducted using the Illumina OvineSNP50 Be...
ORGANISM(S): Ovis aries 
2012-01-01 | E-GEOD-26310 | biostudies-arrayexpress
GenomicsHigh-fidelity and differential nonsense suppression in live cells and a frontotemporal dementia allele with human transfer RNAs
High-fidelity and differential nonsense suppression in live cells and a frontotemporal dementia allele with human transfer RNAs
PRJNA1280181 | ENA
UnknownNonsense mutation-dependent reinitiation of translation in mammalian cells.
Not available
S-EPMC6614817 | biostudies-literature
GenomicsThe nonsense-mediated mRNA decay (NMD) pathway safeguards telomeres in pluripotent stem cells
The nonsense-mediated mRNA decay (NMD) pathway safeguards telomeres in pluripotent stem cells
PRJNA1279188 | ENA
UnknownGene Amplification as a Mechanism of Yeast Adaptation to Nonsense Mutations in Release Factor Genes.
Not available
S-EPMC8701342 | biostudies-literature
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