Results 71 to 80 of about 25,212 (153)

Stop that nonsense!

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

Splicing Factor Mutations in Clonal Hematopoiesis and Progression to Myeloid Neoplasms

Cancer Science, EarlyView.
Splicing factor (SF)‐mutant CH is characterized by relatively late emergence and accelerated clonal expansion in older individuals. This review summarizes its clonal dynamics, disease‐associated consequences of SF mutations in myeloid neoplasms, and candidate mechanisms that may contribute to age‐dependent selection.
Yang Lyu, Yutong Zhang, Ayana Kon
wiley   +1 more source

PABPC1 in Cancer: From a Translational Housekeeper to a Stress‐Responsive Regulatory Hub

Cancer Science, EarlyView.
PABPC1 shifts from a translational housekeeper to a stress‐responsive oncogenic hub via phase separation, PTMs, and non‐coding RNA crosstalk, selectively driving oncogene translation and therapy resistance in cancer. ABSTRACT PABPC1, long recognized as a constitutive translational housekeeper, has emerged as a stress‐responsive translational ...
Cuiwei Zhang, Ye Zhu, Wenbo Long
wiley   +1 more source

Kcnv2 E151X Mouse Captures Hallmarks of KCNV2‐Associated Retinal Dystrophy

Clinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Background KCNV2‐associated retinopathy is a rare inherited retinal dystrophy caused by variants in the KCNV2 gene, leading to disrupted photoreceptor behaviour and progressive deterioration of vision. Patients have characteristic electroretinography abnormalities, including reduced cone response, delayed and reduced rod response to low light ...
Nermina Xhaferri, Sumit Biswas, Benjamin Davies, Moritz Lindner   +3 more
wiley   +1 more source

HTLV-1 Tax plugs and freezes UPF1 helicase leading to nonsense-mediated mRNA decay inhibition

Nature Communications, 2018
UPF1 is a central protein in nonsense-mediated mRNA decay (NMD), but contribution of its RNA processivity to NMD is unclear. Here, the authors show how the retroviral Tax protein interacts with and inhibits UPF1, and demonstrate that UPF1’s translocase ...
Francesca Fiorini, Jean-Philippe Robin, Joanne Kanaan, Malgorzata Borowiak, Vincent Croquette, Hervé Le Hir, Pierre Jalinot, Vincent Mocquet   +7 more
doaj   +1 more source

Biallelic Truncating Variant in LRGUK Is Associated With Severe Multiple Morphological Abnormalities of the Sperm Flagella and Sperm Nuclear Defects in Humans

Clinical Genetics, EarlyView.
A homozygous truncating variant in LRGUK results in loss of the LRGUK protein and causes multiple morphological abnormalities of the flagella (MMAF), disrupted axonemal architecture, central pair defects, abnormal chromatin organization, and severe male infertility, establishing LRGUK as a novel human infertility gene.
Wiâme Mokkedem, Zeina Wehbe, Anne‐Laure Barbotin, Angèle Boursier, Célia Tebbakh, Nicolas Thierry‐Mieg, Marie Bidart, Antonella Migliaccio, Rosanna Chianese, Christophe Arnoult, Raoudha Zouari, Zine‐Eddine Kherraf, Pierre F. Ray, Guillaume Martinez, Charles Coutton   +14 more
wiley   +1 more source

Therapeutic Nonsense Suppression Modalities: From Small Molecules to Nucleic Acid-Based Approaches

Biomedicines
Nonsense 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

Pathogenicity of NUSAP1 Variants Is Defined by NMD‐Escape: Evidence From Two Novel Cases and Systematic Population‐Based Variant Analysis

Clinical Genetics, EarlyView.
Heterozygous de novo nonsense variants in the penultimate and last exons of NUSAP1 were identified in two unrelated individuals, predicted to escape NMD. In population data, nonsense variants were observed in exons 1–9 (of 11) in NUSAP1 but were absent from its 3′‐terminal region.
Maureen Jacob, Susann Badmann, Stefania Bigoni, Maria Iascone, Ilaria Vivaldi, Katharina Mayerhanser, Robert Kopajtich, Holger Prokisch, Cristina Forest, Sebastian Eck, Michael Zech, Elisabeth Graf, Matias Wagner, Juliane Winkelmann, Theresa Brunet, Melanie Brugger   +15 more
wiley   +1 more source

GIGYF2: A Multifunctional Regulator at the Crossroads of Gene Expression, mRNA Surveillance, and Human Disease

Cells
GIGYF2 (Grb10-interacting GYF protein 2) functions as a versatile adaptor protein that regulates gene expression at various levels. At the transcriptional level, GIGYF2 facilitates VCP/p97-mediated extraction of ubiquitylated Rpb1 from stalled RNA ...
Chen-Shuo Zhao, Shu-Han Liu, Zheng-Yang Li, Jia-Yue Chen, Xiang-Yang Xiong   +4 more
doaj   +1 more source

Genetic Testing Unveils a Novel Thrombospondin‐1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79‐Year‐Old Woman

Clinical Genetics, EarlyView.
A 79‐year‐old woman with lifelong peripheral edema and an affected sister was found to harbor a novel homozygous THSD1 splice‐site variant. Reduced THSD1 expression in dermal endothelial cells supported the possibility that this variant contributes to chronic hereditary edema.
Eiko Amo, Takafumi Toyohara, Naoya Saijo, Satoko Sato, Jun Takayama, Yoshiko Suto, Yuji Noguchi, Sosuke Kinomura, Yusuke Ishizuka, Shun Watanabe, Koichi Kikuchi, Rui Makino, Mai Yoshida, Yuji Oe, Tasuku Nagasawa, Koji Okamoto, Takehiro Suzuki, Mariko Miyazaki, Shinya Kawaguchi, Takashi Suzuki, Takaaki Abe, Shigeo Kure, Atsuo Kikuchi, Tetsuhiro Tanaka   +23 more
wiley   +1 more source