Results 91 to 100 of about 2,306,587 (203)

Characterization of a nonsense-mediated mRNA decay (NMD) copper regulon.

, 2015
The nonsense-mediated mRNA decay (NMD) pathway was originally identified as a pathway that degrades mRNAs harboring premature termination codons. NMD is now also recognized as a pathway that degrades natural mRNAs.
Peccarelli, Megan C., 1988-
core   +3 more sources

Polypyrimidine tract binding protein 1 protects mRNAs from recognition by the nonsense-mediated mRNA decay pathway

eLife, 2016
The nonsense-mediated mRNA decay (NMD) pathway degrades mRNAs containing long 3'UTRs to perform dual roles in mRNA quality control and gene expression regulation. However, expansion of vertebrate 3'UTR functions has required a physical expansion of 3'UTR
Zhiyun Ge, Bao Lin Quek, Karen L Beemon, J Robert Hogg   +3 more
doaj   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2067-2079, September 2026.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2128-2135, September 2026.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

NMD and the evolution of eukaryotic gene structure

, 2006
All cells are confronted with undesirable transcripts derived from mutant alleles, but the production of aberrant transcripts from otherwise normal DNA may be an even greater challenge.
Scofield, Douglas G.,, Lynch, Michael, Hong, Xin   +2 more
core  

Control of gene expression through the nonsense-mediated RNA decay pathway

Cell & Bioscience, 2017
Nonsense-mediated RNA decay (NMD) was originally discovered as a cellular surveillance pathway that safeguards the quality of mRNA transcripts in eukaryotic cells.
Andrew Nickless, Julie M. Bailis, Zhongsheng You   +2 more
doaj   +1 more source

Immunity of the Saccharomyces cerevisiae SSY5 mRNA to nonsense-mediated mRNA decay.

Frontiers in Molecular Biosciences, 2014
The nonsense-mediated mRNA decay (NMD) pathway is a specialized pathway that triggers the rapid degradation of select mRNAs. Initially identified as a pathway that degrades mRNAs with premature termination codons, NMD is now recognized as a pathway that ...
Bessie Wanja Kebaara, Jesseeca eObenoskey, Dakota R Lane, Audrey L Atkin   +3 more
doaj   +1 more source

eIF4E-bound mRNPs are substrates for nonsense-mediated mRNA decay in mammalian cells

, 2013
Eukaryotic mRNAs with premature translation-termination codons (PTCs) are recognized and degraded by a process referred to as nonsense-mediated mRNA decay (NMD).
Rufener, Simone
core  

Nonsense Suppression as an Approach to Treat Lysosomal Storage Diseases

Diseases, 2016
In-frame premature termination codons (PTCs) (also referred to as nonsense mutations) comprise ~10% of all disease-associated gene lesions. PTCs reduce gene expression in two ways.
Kim M. Keeling
doaj   +1 more source

Upf1 Phosphorylation Triggers Translational Repression during Nonsense-Mediated mRNA Decay [PDF]

, 2008
SummaryIn mammalian cells, nonsense-mediated mRNA decay (NMD) generally requires that translation terminates sufficiently upstream of a post-splicing exon junction complex (EJC) during a pioneer round of translation. The subsequent binding of Upf1 to the
Isken, Olaf, Hershey, John W.B., Hosoda, Nao, Mayeur, Greg L., Maquat, Lynne E., Hershey, John W. B., Kim, Yoon Ki   +6 more
core   +1 more source