Ataluren—Promising Therapeutic Premature Termination Codon Readthrough Frontrunner [PDF]
Pharmaceuticals, 2021 Around 12% of hereditary disease-causing mutations are in-frame nonsense mutations. The expression of genes containing nonsense mutations potentially leads to the production of truncated proteins with residual or virtually no function.
Sylwia Michorowska
exaly +5 more sources
Caffeine boosts Ataluren's readthrough activity [PDF]
Heliyon, 2019 The readthrough of nonsense mutations by small molecules like Ataluren is considered a novel therapeutic approach to overcome the gene defect in several genetic diseases as cystic fibrosis (CF).
Ivana Pibiri +2 more
exaly +6 more sources
Beyond readthrough: ataluren restores mitochondrial function and reduces oxidative stress in FANCA-mutated cells via mTOR–DRP1 modulation [PDF]
Cell Death DiscoveryFanconi anemia (FA) is a rare inherited bone marrow failure syndrome characterized by genomic instability, mitochondrial dysfunction, and oxidative stress.
Matilde Balbi +13 more
doaj +2 more sources
Ataluren for the treatment of people living with nonsense mutation Duchenne muscular dystrophy: a plain language summary of Study 041 [PDF]
Journal of Comparative Effectiveness ResearchWhat is this summary about? This article describes results from Study 041. Study 041 was a clinical study of ataluren, a treatment for people living with nonsense mutation Duchenne muscular dystrophy (nmDMD for short).
Shiwen Wu +3 more
doaj +2 more sources
Ataluren‐Induced Functional Restoration of Neurofibromin in Fibroblasts From Neurofibromatosis Type 1 Patients With Nonsense Mutations [PDF]
MedCommNeurofibromatosis Type 1 (NF1) is an autosomal dominant genetic disorder caused by heterogeneous mutations in the tumor suppressor gene NF1. Neurofibromin, encoded by NF1, predominantly acts as a negative regulator of the RAS‐MEK signaling pathway. Up to
Soyoung Kim +8 more
doaj +2 more sources
Therapeutic Advances in Neurological Disorders, 2018 Background: Ataluren was approved for the treatment of nmDMD, both the efficacy and safety have been previously reported only from clinical trials but no report exists about real-life experience.
Lucio Santoro +2 more
exaly +2 more sources
Confirmatory long-term efficacy and safety results of ataluren in patients with nmDMD from Study 041, an international, randomized, double-blind, placebo-controlled, Phase III trial [PDF]
Journal of Comparative Effectiveness ResearchAim: To report the efficacy and safety of ataluren in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD) from the phase III, 72-week, placebo-controlled period of Study 041. Materials & methods: Inclusion criteria: boys with nmDMD aged
Dmitry Vlodavets +21 more
doaj +2 more sources
Beyond the stop: Oxadiazole TRIDs restore LRBA protein expression in nonsense-driven primary immunodeficiency [PDF]
Molecular Therapy: Nucleic AcidsNonsense mutations are among the genetic causes of LRBA (lipopolysaccharide-responsive beige-like anchor) deficiency, a rare autosomal-recessive immunodeficiency disorder.
Ignazio Fiduccia +13 more
doaj +2 more sources
Development of translational read-through-inducing drugs as novel therapeutic options for patients with Fanconi anemia [PDF]
Cell Death DiscoveryFanconi anemia (FA) is caused by mutations affecting FANC genes involved in DNA repair, with nearly 20% of FA patients harboring nonsense mutations. Ataluren (PTC124) is a translational read-through-inducing drug (TRID) already approved in Europe that ...
Anca Manuela Hristodor +13 more
doaj +2 more sources
Ataluren improves hematopoietic and pancreatic disorders in Shwachman-Diamond syndrome patients: a compassionate program case-series [PDF]
Nature CommunicationsShwachman-Diamond syndrome (SDS) is characterized by exocrine pancreatic insufficiency, neutropenia, and a high risk of myeloid malignancy. Most patients with SDS harbor nonsense mutations in Shwachman-Bodian-Diamond syndrome gene (SBDS), which encodes a
Valentino Bezzerri +19 more
doaj +2 more sources