Results 71 to 80 of about 1,505 (151)

[Use of ataluren in Spain: administrative incoherences and ethical implications].

Cuadernos de bioetica : revista oficial de la Asociacion Espanola de Bioetica y Etica Medica, 2021
Duchenne muscular dystrophy is a rare genetic disease with only ataluren like pharmaceutical treatment available. This drug received a conditional authorization by the European Medicines Agency (EMA) in 2014, meaning that it was commercially available while waiting for more solid results that demonstrate the efficacy and safety.
Pilar, Pacheco López, María Antonia, Meroño Saura, Ana, Aranda García   +2 more
openaire   +1 more source

The role of ataluren in the treatment of ambulatory and non-ambulatory children with nonsense mutation duchenne muscular dystrophy - a consensus derived using a modified Delphi methodology in Eastern Europe, Greece, Israel and Sweden

BMC Neurology
Background This paper details the results of an evaluation of the level of consensus amongst clinicians on the use of ataluren in both ambulatory and non-ambulatory patients with nonsense mutation Duchenne muscular dystrophy (nmDMD).
Tanja Golli, Lenka Juříková, Thomas Sejersen, Craig Dixon   +3 more
doaj   +1 more source

A lack of premature termination codon read-through efficacy of PTC124 (Ataluren) in a diverse array of reporter assays.

PLoS Biology, 2013
The drug molecule PTC124 (Ataluren) has been described as a read-through agent, capable of suppressing premature termination codons (PTCs) and restoring functional protein production from genes disrupted by nonsense mutations.
Stuart P McElroy, Toshifumi Nomura, Leah S Torrie, Emma Warbrick, Ulrike Gartner, Gavin Wood, W H Irwin McLean   +6 more
doaj   +1 more source

Cystic Fibrosis Treatment: A Paradigm for New Pediatric Medicines, Globalization of Drug Development and the Role of the European Medicines Agency

Children, 2015
The European Pediatric Pharmaceutical Legislation wants children to benefit more from pharmaceutical progress. In rare diseases, concerns have been raised that this legislation might damage research and stymie drug development. We discuss the role of the
Klaus Rose, Michael G. Spigarelli
doaj   +1 more source

Therapeutic Advances in Duchenne Muscular Dystrophy: Regulatory Milestones, Emerging Modalities, and Implications for Clinical Practice [PDF]

Annals of Child Neurology
Duchenne muscular dystrophy (DMD) is undergoing rapid therapeutic change, driven by mutation-specific treatments, gene-based interventions, and non-gene disease-modifying approaches.
Vivek Mundada
doaj   +1 more source

Treatment with ataluren in four symptomatic Duchenne carriers. A pilot study.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Duchenne muscular dystrophy (DMD) is a devastating X-linked neuromuscular disorder caused by dystrophin gene deletions (75%), duplications (15-20%) and point mutations (5-10%), a small portion of which are nonsense mutations. Women carrying dystrophin gene mutations are commonly unaffected because the wild X allele may produce a sufficient amount of ...
Dori, Amir, Scutifero, Marianna, Passamano, Luigia, Zoppi, Dario, Ruggiero, Lucia, Trabacca, Antonio, Politano, Luisa   +6 more
openaire   +3 more sources

Aminoglycosides, but not PTC124 (Ataluren), rescue nonsense mutations in the leptin receptor and in luciferase reporter genes

Scientific Reports, 2017
In rare cases, monogenetic obesity is caused by nonsense mutations in genes regulating energy balance. A key factor herein is the leptin receptor. Here, we focus on leptin receptor nonsense variants causing obesity, namely the human W31X, murine Y333X ...
Florian Bolze, Sabine Mocek, Anika Zimmermann, Martin Klingenspor   +3 more
doaj   +1 more source

Use of PTC124 for nonsense suppression therapy targeting BMP4 nonsense variants in vitro and the bmp4st72 allele in zebrafish.

PLoS ONE, 2019
Nonsense suppression therapy (NST) utilizes compounds such as PTC124 (Ataluren) to induce translational read-through of stop variants by promoting the insertion of near cognate, aminoacyl tRNAs that yield functional proteins.
Max Krall, Stephanie Htun, Anne Slavotinek   +2 more
doaj   +1 more source

Noticiero farmacológico

Revista del Hospital de Niños
Sección a Cargo de Patricia Cardoso y Rau?l Plager Acetazolamida: notificación de casos de efusión coroidea / desprendimiento coroideo Lamotrigina: síndrome de Stevens Johnson y Necrólisis epidérmica tóxica en pacientes de origen asiático con alelo ...
Patricia Cardoso, Raul Plager
doaj   +2 more sources

Recalibrating Therapeutic Priorities for Duchenne Muscular Dystrophy: A Critical Synthesis of Approved and Emerging Strategies Through the Lens of an Underrepresented Population. [PDF]

Genes (Basel)
Khaidarov S, Moldakaryzova A, Dautov D, Sagatbayeva N, Yeszhan B, Nurgaliyeva B, Kenbayeva S, Abdullayeva G, Rabandiyarov M, Tazhibayeva KN, Sadykova A, Yermekbay A, Aidarov A, Aidarov D, Aidarova A, Kurbaniyazova S, Abiyrova N, Kulmaganbetov M.   +17 more
europepmc   +1 more source