Results 111 to 120 of about 41,960 (230)
Clinical Genetics, EarlyView.A deep‐intronic single nucleotide variant in RUNX2 causes the characteristic clinical features of cleidocranial dysplasia (CCD) in a family via pseudo‐exon inclusion into the mRNA. The pseudo‐exon contains a premature stop codon and triggers mRNA decay, which results in RUNX2 haploinsufficiency, the known disease mechanism.
Dorothea Stojanovic +3 more
wiley +1 more source
Clinical Genetics, EarlyView.We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig +5 more
wiley +1 more source
Clinical Genetics, EarlyView.Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis +9 more
wiley +1 more source
UPF1-like helicase grip on nucleic acids dictates processivity
Nature Communications, 2018 UPF1 is a highly processive helicase that plays an essential role in nonsense-mediated mRNA decay. Here the authors use single molecule binding assays to establish a functionally important relationship between helicase grip to nucleic acids, binding ...
Joanne Kanaan +5 more
doaj +1 more source
eLife, 2014 Cells can avoid the effects of so-called ‘nonsense’ mutations by several methods, including a newly discovered mechanism driven by microRNA molecules.
Catherine L Jopling
doaj +1 more source
Human NMD ensues independently of stable ribosome stalling
Nature Communications, 2020 Nonsense-mediated mRNA decay (NMD) was thought to ensue when ribosomes fail to terminate translation properly. However, the authors observe similar ribosome occupancy at stop codons of NMD sensitive and insensitive mRNAs, showing that human NMD is not ...
Evangelos D. Karousis +4 more
doaj +1 more source
Protecting the proteome: Eukaryotic cotranslational quality control pathways. [PDF]
, 2014 The correct decoding of messenger RNAs (mRNAs) into proteins is an essential cellular task. The translational process is monitored by several quality control (QC) mechanisms that recognize defective translation complexes in which ribosomes are stalled on
Bennett, Eric J, Lykke-Andersen, Jens
core +2 more sources
Journal of Integrative Plant Biology, EarlyView.The rice protein OsFKBP20‐1b protects key RNA‐surveillance factors from breakdown, so they can better eliminate defective messages. This RNA quality‐control boost reduces errors and helps plants survive drought, revealing a link between RNA control and drought tolerance.
Haemyeong Jung +5 more
wiley +1 more source
Journal of Integrative Plant Biology, EarlyView.Two optimized TadA‐derived base editors efficiently generate diverse splicing variants by targeting specific splice sites in potato. ABSTRACT Pre‐messenger RNA (pre‐mRNA) splicing is a critical mechanism for post‐transcriptional regulation in plants. Through alternative splicing, plants produce diverse transcriptomes and proteomes that finely regulate ...
Kaiyuan Chen +8 more
wiley +1 more source
Analysis of Nonsense‐Mediated mRNA Decay in Mammalian Cells
Current Protocols in Cell Biology, 2012 AbstractThe nonsense‐mediated mRNA decay (NMD) pathway acts to selectively identify and degrade mRNAs that contain a premature translation termination codon (PTC), and hence reduce the accumulation of potentially toxic truncated proteins. NMD is one of the best studied mRNA quality‐control mechanisms in eukaryotes, and it has become clear during recent
Nicholson Pamela +2 more
openaire +3 more sources