Results 121 to 130 of about 17,359 (221)
Nonsense-mediated decay mechanism is a possible modifying factor of clinical outcome in nonsense cd39 beta thalassemia genotype [PDF]
, 2012 Nonsense-mediated mRNA decay (NMD) is a surveillance system to prevent the synthesis of non-functional proteins. In β-thalassemia, NMD may have a role in clinical outcome.
ATTANASIO, Massimo +11 more
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The FASEB Journal, 2008 Nonsense‐mediated mRNA decay (NMD) is an mRNA surveillance mechanism that degrades transcripts harboring premature termination codons (PTCs), preventing the synthesis of potentially deleterious proteins. Upf1p, Upf2p, and Upf3p are central components of the NMD pathway in Saccharomyces cerevisiae.
Clarivel Lasalde +6 more
openaire +1 more source
PLoS Biology, 2007 Frameshift and nonsense mutations are common in tumors with microsatellite instability, and mRNAs from these mutated genes have premature termination codons (PTCs). Abnormal mRNAs containing PTCs are normally degraded by the nonsense-mediated mRNA decay (
Kwon Tae You +10 more
doaj +1 more source
Techniques for RNA in vivo imaging in plants [PDF]
, 2014 Since the discovery of small RNAs and RNA silencing, RNA biology has taken a centre stage in cell and developmental biology. Small RNAs, but also mRNAs and other types of cellular and viral RNAs are processed at specific subcellular localizations.
Tilsner, Jens
core +1 more source
Rapidly evolving protointrons in Saccharomyces genomes revealed by a hungry spliceosome. [PDF]
, 2019 Introns are a prevalent feature of eukaryotic genomes, yet their origins and contributions to genome function and evolution remain mysterious. In budding yeast, repression of the highly transcribed intron-containing ribosomal protein genes (RPGs ...
Ares, Manuel +8 more
core +1 more source
Gene expression regulation by upstream open reading frames and human disease [PDF]
, 2013 Upstream open reading frames (uORFs) are major gene expression regulatory elements. In many eukaryotic mRNAs, one or more uORFs precede the initiation codon of the main coding region.
Barbosa, Cristina +2 more
core +2 more sources
Neurobiology of Disease, 2006 The twitcher mouse is a pathologically and enzymatically authentic model of globoid cell leukodystrophy (GLD, Krabbe disease) that has been widely used for the evaluation of potential therapeutic approaches. This naturally occurring mouse model contains a premature stop codon (W339X) in the galactosylceramidase (GALC) gene that abolishes enzymatic ...
Wing C. Lee +5 more
openaire +3 more sources
Therapeutic Nonsense Suppression Modalities: From Small Molecules to Nucleic Acid-Based Approaches
BiomedicinesNonsense mutations are genetic mutations that create premature termination codons (PTCs), leading to truncated, defective proteins in diseases such as cystic fibrosis, neurofibromatosis type 1, Dravet syndrome, Hurler syndrome, Beta thalassemia ...
Pedro Morais, Rui Zhang, Yi-Tao Yu
doaj +1 more source
Envolvimento da ribonuclease humana Dis3L1 em processos de controlo de qualidade da expressão génica [PDF]
, 2011 Tese de mestrado. Biologia (Biologia Humana e Ambiente). Universidade de Lisboa, Faculdade de Ciências, 2011A expressão génica nos eucariotas envolve um número de etapas interligadas desde a transcrição do material genético até à tradução em proteína ...
Cruz, David João Clara da, 1986 +2 more
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Nonsense-mediated mRNA decay among coagulation factor genes [PDF]
Iranian Journal of Basic Medical Sciences, 2016 Objective(s): Haemostasis prevents blood loss following vascular injury. It depends on the unique concert of events involving platelets and specific blood proteins, known as coagulation factors.
Shirin Shahbazi
doaj