Results 11 to 20 of about 1,505 (151)

TREM2‐Mediated Cholesterol Efflux in Macrophages Inhibits Anti‐Tumor Immunity via Limitation of CD4+ T and NK Cells [PDF]

Advanced Science
Tumor‐associated macrophages (TAMs) predominantly exert functions that facilitate tumor progression. Triggering receptor expressed on myeloid cell 2 (TREM2) is expressed in TAMs, playing a crucial role in mediating the immunosuppressive function of TAMs.
Yunhan Wang, Weina Yu, Xinxin Wang, Qitai Zhao, Qingyang Lei, Aitian Li, Shasha Liu, Tian Wang, Li Yang, Yi Zhang   +9 more
doaj   +3 more sources

Opinion of the Italian Association of Myology on Ataluren for the Treatment of Nonsense Mutation Duchenne Muscular Dystrophy [PDF]

Drugs in R&D
The Italian Duchenne muscular dystrophy expert clinicians, gathered in the Italian Association of Myology (AIM), intend to express a position against the suspension of the Marketing Authorization of ataluren (Translarna®) for the treatment of nonsense ...
Luca Bello, Pietro Riguzzi, Emilio Albamonte, Guja Astrea, Roberta Battini, Andrea Barp, Angela L. Berardinelli, Enrico S. Bertini, Noemi Brolatti, Claudio Bruno, Stefania Corti, Adele D’Amico, Maria Grazia D’Angelo, Gianfranco Dallavalle, Rocco Liguori, Lorenzo Maggi, Francesca Magri, Michelangelo Mancuso, Riccardo Masson, Eugenio Mercuri, Carlo Minetti, Sonia Messina, Tiziana Mongini, Olimpia Musumeci, Vincenzo Nigro, Marika Pane, Chiara Panicucci, Marina Pedemonte, Antonella Pini, Luisa Politano, Stefano Previtali, Federica Ricci, Giulia Ricci, Lucia Ruggiero, Valeria Sansone, Gabriele Siciliano, Antonio Trabacca, Federica Trucco, Daniele Velardo, Elena Pegoraro, Giacomo P. Comi   +40 more
doaj   +12 more sources

Long term treatment with ataluren—the Swedish experience [PDF]

BMC Musculoskeletal Disorders, 2021
Introduction Ataluren is a relatively new treatment for male patients with Duchenne muscular dystrophy (DMD) due to a premature stop codon. Long-term longitudinal data as well as efficacy data on non-ambulant patients are still lacking.
Eva Michael, Kalliopi Sofou, Lisa Wahlgren, Anna-Karin Kroksmark, Már Tulinius   +4 more
doaj   +3 more sources

Formulation and Stability of Ataluren Eye Drop Oily Solution for Aniridia [PDF]

Pharmaceutics, 2020
Congenital aniridia is a rare and severe panocular disease characterized by a complete or partial iris defect clinically detectable at birth. The most common form of aniridia occurring in around 90% of cases is caused by PAX6 haploinsufficiency.
Celia Djayet, Dominique Bremond-Gignac, Justine Touchard, Philippe-Henri Secretan, Fabrice Vidal, Matthieu P. Robert, Alejandra Daruich, Salvatore Cisternino, Joël Schlatter   +8 more
doaj   +3 more sources

Safety and effectiveness of ataluren in patients with Duchenne muscular dystrophy: single-center experience from Saudi Arabia [PDF]

Journal of International Medical Research
Objective Duchenne muscular dystrophy (DMD) is a rare X-linked neurodegenerative disorder caused by mutations in the DMD gene. This study examined the efficacy and safety of ataluren, the first oral treatment for DMD with nonsense mutations (nmDMD), in ...
Mushtaha Ahmad, Alaa ElRasoul, Raneem Sedayou, Mohammed Tamboosi, Hanan Mahroos, Shaimaa Alrashed, Mariam Tunkar, Faisal Alzahrani, Mohammed Alharbi, Mona Aljehani, Mousa Alahmari, Khalid Alqarni, Maha Gashlan, Berna Seker Yilmaz, Nahla M. Alshaikh   +14 more
doaj   +2 more sources

Rescuing TP53 from nonsense: novel triazoles for translational readthrough via optimized drug design [PDF]

Scientific Reports
Nonsense mutations introduce premature termination codons (PTCs), leading to mRNA degradation and the production of truncated, non-functional proteins.
Davide Ricci, Michele Menditto, Giulia Culletta, Marco Tutone, Carla Rizzo, Andrea Pace, Laura Lentini, Ivana Pibiri   +7 more
doaj   +2 more sources

Mutation type-specific transcriptomic signatures and readthrough therapy rescue in SMC1A-related developmental and epileptic encephalopathy. [PDF]

Epilepsia
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 ...
Di Nardo M, Sardina F, Pallotta MM, Marcos-Alcalde I, Gómez-Puertas P, Rinaldo C, Krantz ID, Musio A.   +7 more
europepmc   +2 more sources

Ataluren-mediated nonsense variant readthrough in D-bifunctional protein deficiency: A case report [PDF]

Molecular Genetics and Metabolism Reports
D-bifunctional protein (DBP) deficiency, a fatal peroxisomal enzyme disorder, typically manifests with life-threatening symptoms in the first two years of childhood. We present the case of an infant with elevated lysophosphatidylcholine C26:0 (C26:0-LPC)
Rai-Hseng Hsu, Ni-Chung Lee, Hui-An Chen, Wuh-Liang Hwu, Wang-Tso Lee, Yin-Hsiu Chien   +5 more
doaj   +2 more sources

Proposing a mechanism of action for ataluren [PDF]

Proceedings of the National Academy of Sciences, 2016
Protein synthesis follows the advice given in Alice in Wonderland: “‘Begin at the beginning,’ the King said gravely, ‘and go on till you come to the end: then stop.’” (1). For most protein synthesis, “the beginning” is the first methionine codon (AUG) encountered by the ribosome downstream of the cap, which is situated at the 5′ end of the mRNA (Fig. 1)
Siddiqui, Nadeem, Sonenberg, Nahum
openaire   +3 more sources

Functional recovery of a novel knockin mouse model of dysferlinopathy by readthrough of nonsense mutation

Molecular Therapy: Methods & Clinical Development, 2021
Biallelic mutations in the dysferlin gene cause limb-girdle muscular dystrophy 2B or Miyoshi distal myopathy. We found that nonsense mutations are the most common mutation type among Korean patients with dysferlinopathy; more than half of the patients ...
Kyowon Seo, Eun Kyoung Kim, Jaeil Choi, Dae-Seong Kim, Jin-Hong Shin   +4 more
doaj   +1 more source