Results 31 to 40 of about 1,505 (151)

Ataluren metabolism: Ataluren-O-1β-acyl glucuronide is a stable circulating metabolite in mouse, rat, dog and human

Drug Metabolism and Pharmacokinetics, 2021
Ataluren is an aromatic acid derivative with a 1,2,4-oxodiazole moiety. Ataluren-O-1β-acyl glucuronide is a prominent circulatory metabolite in mice, rats, dogs, and humans following oral administration of ataluren. The objective of this paper was to evaluate the stability in vitro and in vivo of ataluren-O-1β-acyl glucuronide metabolite.
Jiyuan Ma, Nicole Risher, Valerie Northcutt, Young-Choon Moon, Marla Weetall, Ellen Welch, Joseph Colacino, Neil Almstead, Ronald Kong   +8 more
openaire   +2 more sources

Novel Translational Read-through–Inducing Drugs as a Therapeutic Option for Shwachman-Diamond Syndrome

Biomedicines, 2022
Shwachman-Diamond syndrome (SDS) is one of the most commonly inherited bone marrow failure syndromes (IBMFS). In SDS, bone marrow is hypocellular, with marked neutropenia.
Valentino Bezzerri, Laura Lentini, Martina Api, Elena Marinelli Busilacchi, Vincenzo Cavalieri, Antonella Pomilio, Francesca Diomede, Anna Pegoraro, Simone Cesaro, Antonella Poloni, Andrea Pace, Oriana Trubiani, Giuseppe Lippi, Ivana Pibiri, Marco Cipolli   +14 more
doaj   +1 more source

Symptoms and impacts of ambulatory nonsense mutation Duchenne muscular dystrophy: a qualitative study and the development of a patient-centred conceptual model

Journal of Patient-Reported Outcomes, 2021
Background Duchenne muscular dystrophy is a rare genetic neuromuscular disorder, which can result in early death due to disease progression. Ataluren is indicated for the treatment of nonsense mutation Duchenne muscular dystrophy, in ambulatory ...
Kate Williams, Ian Davidson, Mark Rance, Axel Boehnke, Katharina Buesch, Sarah Acaster   +5 more
doaj   +1 more source

Natural history of patients with nonsense mutation Duchenne muscular dystrophy treated with ataluren in Spain. [PDF]

Acta Myol
Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disease linked to the X chromosome caused by the lack of functional dystrophin. About 10-15% of cases are caused by nonsense mutations, and their natural history is thought to be similar to DMD by other causes. Ataluren is a new therapeutic option that promotes the readthrough of nonsense
Armijo J, Nascimento A, Expósito J, Carrera L, Natera-de Benito D, Ortez C.   +5 more
europepmc   +3 more sources

A qualitative study on the impact of caring for an ambulatory individual with nonsense mutation Duchenne muscular dystrophy

Journal of Patient-Reported Outcomes, 2021
Background Duchenne muscular dystrophy is a rare genetic neuromuscular disorder, which can result in early death due to disease progression. Ataluren is indicated for the treatment of nonsense mutation Duchenne muscular dystrophy, in ambulatory ...
Kate Williams, Ian Davidson, Mark Rance, Katharina Buesch, Sarah Acaster   +4 more
doaj   +1 more source

Restorative treatments of dystrophin expression in Duchenne muscular dystrophy: A systematic review

Annals of Clinical and Translational Neurology, 2020
To evaluate the effect of pharmacological treatments that increase the synthesis of dystrophin in Duchenne muscular dystrophy (DMD). Systematic searches were carried out in MEDLINE, EMBASE, and Web of Science, and in gray literature from inception to ...
Carlos Pascual‐Morena, Iván Cavero‐Redondo, Celia Álvarez‐Bueno, Arthur Eumann Mesas, Diana Pozuelo‐Carrascosa, Vicente Martínez‐Vizcaíno   +5 more
doaj   +1 more source

Antisense Oligonucleotides: Concepts and Pharmaceutical Applications

Borneo Journal of Pharmacy, 2023
Antisense oligonucleotides are drugs whose mechanism is based on binding to RNA target sequences. For this purpose, they modify the protein expression through steric hindrance and exon omission.
Ariana Araya, David Arias, Karla Coto, María Rebeca López, Joselyn Rivera, Juan José Mora   +5 more
doaj   +1 more source

Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts

EBioMedicine, 2021
Background: Ciliary dysfunction underlies a range of genetic disorders collectively termed ciliopathies, for which there are no treatments available. Bardet-Biedl syndrome (BBS) is characterised by multisystemic involvement, including rod-cone dystrophy ...
Jonathan Eintracht, Elizabeth Forsythe, Helen May-Simera, Mariya Moosajee   +3 more
doaj   +1 more source

Treatment with Ataluren for Duchene Muscular Dystrophy

Pediatric Neurology Briefs, 2020
Investigators from Europe and the USA, representing the STRIDE Registry and Cooperative International Neuromuscular Research Group (CINRG) Duchenne Natural History Study (DNHS), examined the effectiveness of ataluren and standard of care in the Registry versus stand of care alone in the CINRG DNHS.
openaire   +4 more sources

Clinical potential of ataluren in the treatment of Duchenne muscular dystrophy

Degenerative Neurological and Neuromuscular Disease, 2016
Duchenne muscular dystrophy (DMD) is an autosomal dominant, X-linked neuromuscular disorder caused by mutations in dystrophin, one of the largest genes known to date. Dystrophin gene mutations are generally transmitted from the mother to male offspring and can occur throughout the coding length of the gene.
Namgoong,John, Bertoni,Carmen
openaire   +4 more sources