Results 121 to 130 of about 144,032 (247)

Switching disease‐modifying therapies in patients with spinal muscular atrophy: A systematic review on effectiveness outcomes

British Journal of Clinical Pharmacology, EarlyView.
With multiple disease‐modifying therapies now available, treatment switching has become an important clinical consideration in the management of spinal muscular atrophy (SMA). While some switches are prompted by suboptimal clinical response, more commonly they are driven by treatment burden, convenience, or adverse events.
Andrej Belančić, Elvira Meni Maria Gkrinia, Patrick Eustaquio, Andrea Katrin Faour, Dinko Vitezić   +4 more
wiley   +1 more source

Antisense oligonucleotides used in this study.

, 2013
Antisense oligonucleotides used in this study.
Willem M. H. Hoogaars (430632), Annemieke Aartsma-Rus (33030), Jie Cai (389349), SongTing Shi (430629), Dwi U. Kemaladewi (430631), Peter A. C. ’t Hoen (5655445), David J. J. de Gorter (408007), Gonzalo Sanchez-Duffhues (430630), Peter ten Dijke (82259)   +8 more
core   +1 more source

Cost‐utility analysis of nusinersen–risdiplam switch in patients with spinal muscular atrophy in Croatia: A discrete event simulation model

British Journal of Clinical Pharmacology, EarlyView.
Introduction In recent years, the treatment of spinal muscular atrophy (SMA), a rare disease, has significantly progressed, improving patients' survival and overall quality of life. However, current SMA treatments are expensive, and some (nusinersen) are very inconvenient for patients.
Andrej Belančić, Ivana Stević, Elvira Meni Maria Gkrinia, Dinko Vitezić, Slobodan Janković   +4 more
wiley   +1 more source

Splicing therapeutics in SMN2 and APOB [PDF]

, 2009
Splicing therapeutics are defined as the deliberate modification of RNA splicing to achieve therapeutic goals. Various techniques for splicing therapeutics have been described, and most of these involve the use of antisense oligonucleotide-based ...
Krainer, AR, Khoo, B., Krainer, A. R., Khoo, B   +3 more
core  

Precision medicine in paediatrics: Progress and priorities

British Journal of Clinical Pharmacology, EarlyView.
Precision medicine is revolutionizing personalized healthcare, advancing both diagnostics and therapeutics at an unprecedented pace. Reviewing the paediatric applications of pharmacometrics, pharmacogenomics and advanced therapy medicinal products highlights not only the relevance of these exciting innovations to frontline care but also the significant
Nicola Husain, Claire Booth, Joseph F. Standing, Charlotte I. S. Barker   +3 more
wiley   +1 more source

Decoding RNA regulation: Challenges and opportunities for RNA‐based therapies in Europe

British Journal of Clinical Pharmacology, EarlyView.
Abstract RNA‐based medicinal products represent a promising frontier in personalised medicine, offering sequence‐specific disease targeting at various molecular levels, yet their clinical translation in the European Union (EU) may be hindered by regulatory uncertainty around definitions and evidence requirements; this study therefore aims to identify ...
Olivia C. Lewis, Christine Leopold, Joyce M. Hoek, Raymond M. Schiffelers, Marie L. De Bruin   +4 more
wiley   +1 more source

4′‐ThioRNA Substitution and Sense‐Strand Segmentation for the Design of Functional Fully Modified siRNAs Targeting SARS‐CoV‐2

Chemistry – A European Journal, EarlyView.
4′‐ThioRNA was broadly tolerated across multiple positions in SARS‐CoV‐2‐targeting siRNAs, but full 4'‐thio modification of both strands caused a reduction in RNAi activity. Sense‐strand segmentation improved RNAi and antiviral activity, particularly when the nick was located at position 10 from the 5′‐end of the sense strand, thereby unlocking the ...
Yuhei Nogi, Jun Tsukimoto, Noriko Saito‐Tarashima, Takaaki Koma, Masako Nomaguchi, Noriaki Minakawa   +5 more
wiley   +1 more source

Multivalent RNA‐Cleaving Agents on a Cubic Octameric Silsesquioxane Core

Chemistry – A European Journal, EarlyView.
RNA‐cleaving agents on a cubic octameric silsesquioxane core were synthesized and characterized. Several catalytic systems of these structures were screened using hexaribonucleotide models. The best systems were then further used to study their catalytic efficiency in cleaving a HER2 mRNA model sequence. The induced cleavage sites were also determined.
Hanni Haapsaari, Iris Tuomi, Pasi Virta
wiley   +1 more source

Cytoskeleton–Membrane Uncoupling in Duchenne Muscular Dystrophy: Implications for Newborn Screening and Early Protection

Cytoskeleton, EarlyView.
ABSTRACT The cytoskeleton of striated muscle integrates force transmission, mechanotransduction, and sarcolemmal stability through coordinated networks of sarcomeres, costameres, and intermediate filaments. Together, these systems establish mechanical continuity between the contractile apparatus, the sarcolemma, and the extracellular matrix.
Houda Cohen, Nora Hosny, Brian R. Thompson, Joseph M. Metzger   +3 more
wiley   +1 more source

Hyperactive KIF5A in Neurodegeneration

Cytoskeleton, EarlyView.
ABSTRACT The highly polarised morphology of neurons and the sheer length of their axons make transport of cargoes throughout the cell a formidable task. Decades of evidence obtained from genetic studies on patients and animal models highlight deficits in axonal transport as a recurrent cause, or early contributing factor, in a plethora of ...
David Villarroel‐Campos, James N. Sleigh   +1 more
wiley   +1 more source