Nonselective TRPC channel inhibition and suppression of aminoglycoside-induced premature termination codon readthrough by the small molecule AC1903. [PDF]
J Biol Chem, 2022 Baradaran-Heravi A +9 more
europepmc +1 more source
Movement Disorders, EarlyView.Abstract Background CSF1R‐related disorder (CSF1R‐RD) is a severe autosomal dominant leukoencephalopathy characterized by progressive cognitive, neuropsychiatric, and motor decline. Although genetic testing is widely available, numerous likely pathogenic variants in CSF1R frequently remain classified as variants of uncertain significance (VUS ...
Charles Wade +8 more
wiley +1 more source
Hemophilia A: An Ideal Disease for Prenatal Therapy
Prenatal Diagnosis, EarlyView.ABSTRACT Hemophilia A (HA) is the most common inherited coagulation defect. Current state‐of‐the‐art treatment consists of frequent administration of prophylactic infusions of coagulation factor VIII (FVIII) protein or bispecific antibodies that replace the cofactor function of FVIIIa to maintain hemostasis. However, these treatments are far from ideal,
Christopher D. Porada +2 more
wiley +1 more source
Translational Read-Through Drugs (TRIDs) Are Able to Restore Protein Expression and Ciliogenesis in Fibroblasts of Patients with Retinitis Pigmentosa Caused by a Premature Termination Codon in FAM161A. [PDF]
Int J Mol Sci, 2022 Beryozkin A +6 more
europepmc +1 more source
Programmable 3D Microfluidics Reveals Motility‐Driven Antibiotic Resistance Evolution in Gradients
Small, EarlyView.Using a programmable microfluidic platform, this study shows that bacterial motility is crucial for resistance development in heterogeneous antibiotic landscapes. Motile Escherichia coli randomly migrates along antibiotic gradients, and sufficient movement is required for resistance to emerge.
Xiaobo Li +8 more
wiley +1 more source
InsectsGenetic mutations leading to premature termination codons are known to have detrimental effects. Using the Lepidoptera model insect, the silkworm (Bombyx mori), we explored the genetic compensatory response triggered by mutations with premature ...
Dong-Yue Wang +6 more
doaj +1 more source
Transposons as Tools for Future Genome Engineering in Yeasts and Filamentous Fungi
Yeast, EarlyView.Applications of transposon‐based tools for genome engineering in fungi include transposon‐mediated mutagenesis and targeted genomic integration. ABSTRACT Transposons are fundamental genetic elements that have profoundly shaped the architecture of eukaryotic genomes.
Bingyin Peng +4 more
wiley +1 more source
Small molecule Y-320 stimulates ribosome biogenesis, protein synthesis, and aminoglycoside-induced premature termination codon readthrough. [PDF]
PLoS Biol, 2021 Hosseini-Farahabadi S +5 more
europepmc +1 more source
Blubber Thickening Driven by UCP1 Inactivation: Insights from a Cetacean‐Like Transgenic Mouse Model
Integrative Zoology, EarlyView.UCP1 inactivation of cetaceans in mice drives BAT whitening and iWAT hyperplasia, promoting fat accumulation for aquatic adaptation. Abstract Cetaceans possess thick blubber, a specialized adipose tissue essential for thermal insulation, a streamlined body form, energy storage, and buoyancy. However, the mechanisms that underpin this adaptation are not
Qian Zhang +5 more
wiley +1 more source
Australasian Journal of Dermatology, EarlyView.ABSTRACT Epidermolysis bullosa (EB) is an inherited mechanobullous genodermatosis caused by a mutation in genes encoding proteins integral to skin integrity. Premature termination codon readthrough therapies, such as gentamicin, have promise in facilitating full‐length protein expression in patients with EB.
Kelvin Truong +4 more
wiley +1 more source