Results 61 to 70 of about 1,505 (151)

Ataluren-time for a 'no–nonsense' approach to haematological malignancies [PDF]

Hematology and Leukemia, 2013
Abstract This article outlines the novel application of Ataluren - a readthrough agent - for the management of a number of haematological malignancies.
openaire   +1 more source

Ataluren stimulates ribosomal selection of near-cognate tRNAs to promote nonsense suppression [PDF]

Proceedings of the National Academy of Sciences, 2016
Significance The drug ataluren restores activity to otherwise nonfunctional nonsense alleles, a capability possibly reflecting the insertion of near-cognate aminoacyl tRNAs at premature termination codons during protein synthesis.
Roy, Bijoyita, Friesen, Westley J., Tomizawa, Yuki, Leszyk, John D., Zhuo, Jin, Johnson, Briana, Dakka, Jumana, Trotta, Christopher R., Xue, Xiaojiao, Mutyam, Venkateshwar, Keeling, Kim M., Mobley, James A., Rowe, Steven M., Bedwell, David M., Welch, Ellen M., Jacobson, Allan   +15 more
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Isothiocyanate-Functionalized Mesoporous Silica Nanoparticles as Building Blocks for the Design of Nanovehicles with Optimized Drug Release Profile

Nanomaterials, 2019
A straightforward methodology for the synthesis of isothiocyanate-functionalized mesoporous silica nanoparticles (MSNs) by exposure of aminated MSNs to 1,1′-thiocarbonyldi-2(1H)-pyridone is reported. These nanoparticles are chemically stable, water
Gabriel Martínez-Edo, Maria C. Llinàs, Salvador Borrós, David Sánchez-García   +3 more
doaj   +1 more source

Current Trends in Duchenne Muscular Dystrophy Research and Therapy: 3D Cardiac Modelling

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 1, February 2026.
ABSTRACT Duchenne muscular dystrophy (DMD), caused by dystrophin deficiency, presents a multifaceted challenge that affects both skeletal muscle function and cardiomyocyte homeostasis, causing progressive degeneration and life‐threatening cardiac complications by adolescence.
Marta Przymuszała, Marta Białobrzeska, Józef Dulak, Urszula Florczyk‐Soluch   +3 more
wiley   +1 more source

Efficacy of Postnatal In Vivo Nonsense Suppression Therapy in a Pax6 Mouse Model of Aniridia

Molecular Therapy: Nucleic Acids, 2017
Nonsense mutations leading to premature stop codons are common occurring in approximately 12% of all human genetic diseases. Thus, pharmacological nonsense mutation suppression strategies would be beneficial to a large number of patients if the drugs ...
Xia Wang, Kevin Gregory-Evans, Kishor M. Wasan, Olena Sivak, Xianghong Shan, Cheryl Y. Gregory-Evans   +5 more
doaj   +1 more source

Mutation spectrum analysis of Duchenne/Becker muscular dystrophy in 68 families in Kuwait: The era of personalized medicine.

PLoS ONE, 2018
Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked recessive neuromuscular disorders characterized by progressive irreversible muscle weakness and atrophy that affect both skeletal and cardiac muscles.
Fawziah Mohammed, Fawziah Mohammed, Alaa Elshafey, Haya Al-Balool, Hayat Alaboud, Mohammed Al Ben Ali, Adel Baqer, Laila Bastaki   +7 more
doaj   +1 more source

TREM2‐Mediated Cholesterol Efflux in Macrophages Inhibits Anti‐Tumor Immunity via Limitation of CD4+ T and NK Cells (Adv. Sci. 5/2026)

Advanced Science, Volume 13, Issue 5, 27 January 2026.
Anti‐Tumor Immunity TREM2+ TAMs promote tumor growth by suppressing anti‐tumor immunity. Blockade of TREM2 reprograms macrophages, increases the infiltration and activity of CD4+ T and NK cells, thereby enhancing the anti‐tumor responses. Bortezomib and ataluren, FDA‐approved drugs, effectively enhance anti‐tumor efficacy by inhibiting TREM2 to reshape
Yunhan Wang, Weina Yu, Xinxin Wang, Qitai Zhao, Qingyang Lei, Aitian Li, Shasha Liu, Tian Wang, Li Yang, Yi Zhang   +9 more
wiley   +1 more source

Терапевтични възможности при пациенти с безсмислени мутации в DMD гена

Българска неврология, 2022
Въведение: ПМД тип Дюшен е Х-свързано рядко генетично заболяване, чиито клинични прояви започват преди 3-годишна възраст с предимно проксимална мускулна слабост, с промяна в походката, затруднено изкачване на стълби и изправяне от клекнало положение ...
Teodora Chamova, Tania Dimitrova, Ivailo Tournev   +2 more
doaj  

Nonsense suppression induced readthrough of a novel PAX6 mutation in patient‐derived cells of congenital aniridia

Molecular Genetics & Genomic Medicine, 2020
Background Congenital aniridia is a severe ocular abnormality characterized by incomplete formation of the iris and many other ocular complications. Most cases are caused by the paired box 6 (PAX6) gene mutations generating premature termination codons ...
Xiaoliang Liu, Yuanyuan Zhang, Bijun Zhang, Haiming Gao, Chuang Qiu   +4 more
doaj   +1 more source

D.08 ACT DMD (Ataluren Confirmatory Trial in Duchenne Muscular Dystrophy): effect of Ataluren on timed function tests (TFT) in nonsense mutation (nm) DMD [PDF]

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 2016
Background: Ataluren is the first drug to treat the underlying cause of nmDMD. Methods: ACT DMD is a Phase 3, randomized, double-blind study. Males 7-16 years with nmDMD and a screening six-minute walk distance (6MWD) ≥150 m and <80%-predicted were randomized to ataluren 40 mg/kg/day or placebo for 48 weeks.
N Goemans, C Campbell, CM McDonald, T Voit, X Luo, G Elfring, H Kroger, P Riebling, T Ong, R Spiegel, SW Peltz, K Bushby   +11 more
openaire   +1 more source