Results 171 to 180 of about 568,137 (302)

Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in SMC1A‐related developmental and epileptic encephalopathy

open access: yesEpilepsia, EarlyView.
Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo   +7 more
wiley   +1 more source

Structural basis of antiphage defence by an ATPase-associated reverse transcriptase. [PDF]

open access: yesNat Commun
George JT   +10 more
europepmc   +1 more source

Cardiac remodeling and arrhythmia in a mouse model of Depdc5 haploinsufficiency

open access: yesEpilepsia, EarlyView.
Abstract Objective Some ion channel genes linked to developmental and epileptic encephalopathy (DEE) are also linked to cardiac arrhythmia, leading to the hypothesis that predisposition to cardiac arrhythmias may contribute to the complex disease presentation of DEE and possibly to the mechanism of sudden unexpected death in epilepsy.
Roberto Ramos‐Mondragon   +9 more
wiley   +1 more source

Structural biology of HIV-1 reverse transcriptase allosteric inhibitors for drug design. [PDF]

open access: yesActa Pharm Sin B
Zhou Z   +8 more
europepmc   +1 more source

Relationship between hTERT levels and oxidative stress in epilepsy patients

open access: yesEpilepsia Open, EarlyView.
Abstract Objective Human telomerase reverse transcriptase (hTERT) is a key determinant of telomere maintenance and cellular aging. Oxidative stress plays a role in neurodegenerative processes by causing cellular damage through increased reactive oxygen species.
Muhammed Mehdi Üremiş   +3 more
wiley   +1 more source

Lyophilised Reverse Transcriptase and Polymerase for Point-of-Care Diagnostics of SARS-CoV-2. [PDF]

open access: yesMicrob Biotechnol
Mutter N   +12 more
europepmc   +1 more source

MiR‐30a‐5p mediates epileptogenesis in epilepsy models by targeting SOX4 to regulate the Wnt/β‐catenin pathway

open access: yesEpilepsia Open, EarlyView.
Abstract Objective The pathogenesis of epilepsy is closely associated with neuronal synaptic plasticity. MicroRNAs (miRNAs) can regulate various biological processes by binding to specific sequences on target genes. This study employs bioinformatics, molecular dynamics, and experimental approaches to investigate the mechanism by which MiR‐30a‐5p treats
Zhenlin Yang   +4 more
wiley   +1 more source

Optimisation of peptides targeting reverse transcriptase HIV-1 using QSAR, machine learning, and computational approaches. [PDF]

open access: yesFront Pharmacol
Mahendra FR   +14 more
europepmc   +1 more source

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